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
TIAM2	26230	broad.mit.edu	37	6	155450761	155450761	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:155450761G>A	ENST00000461783.3	+	6	1677	c.404G>A	c.(403-405)gGa>gAa	p.G135E	TIAM2_ENST00000529824.2_Missense_Mutation_p.G135E|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.G135E|TIAM2_ENST00000360366.4_Missense_Mutation_p.G135E|TIAM2_ENST00000456144.1_Missense_Mutation_p.G135E			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	135					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GACTGCAACGGACACCTTCTC	0.567000													24	65					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225002	21225002	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:21225002T>C	ENST00000233242.1	-	29	13419	c.13292A>G	c.(13291-13293)aAc>aGc	p.N4431S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4431					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGAAGTAAAGTTAGAGGCACT	0.373000													23	92					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81624209	81624209	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:81624209C>T	ENST00000356860.3	-	20	2047	c.1709G>A	c.(1708-1710)aGa>aAa	p.R570K	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R589K	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	589						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AACCAGAGTTCTGAATGTTTT	0.299000													9	84					0	0	1	0	0
ORC4	5000	broad.mit.edu	37	2	148733484	148733484	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:148733484T>A	ENST00000535373.1	-	3	476	c.44A>T	c.(43-45)gAg>gTg	p.E15V	ORC4_ENST00000540442.1_Intron|ORC4_ENST00000392857.4_Missense_Mutation_p.E15V|ORC4_ENST00000392858.1_Missense_Mutation_p.E15V|ORC4_ENST00000264169.2_Missense_Mutation_p.E15V|ORC4_ENST00000542387.1_5'UTR|ORC4_ENST00000536575.1_Intron	NM_001190879.2	NP_001177808.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	15					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						TGAAAGGCACTCTGTGTGAAT	0.308000													38	54					0	0	1	0	0
IQCG	84223	broad.mit.edu	37	3	197670664	197670664	+	Silent	SNP	T	T	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:197670664T>C	ENST00000265239.6	-	4	691	c.267A>G	c.(265-267)agA>agG	p.R89R	IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Silent_p.R89R|IQCG_ENST00000453254.1_Silent_p.R89R	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	89										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		AGATGCTCTGTCTCCCTTCGT	0.438000													36	120					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204970377	204970377	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:204970377C>T	ENST00000367172.4	+	28	3748	c.3420C>T	c.(3418-3420)ttC>ttT	p.F1140F	NFASC_ENST00000404907.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367171.4_Silent_p.F1125F|NFASC_ENST00000401399.1_Silent_p.F1033F|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000339876.6_Silent_p.F1033F|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000367170.4_Silent_p.F1061F			O94856	NFASC_HUMAN	neurofascin	1140	Fibronectin type-III 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGCACAATTTCGGGCCCGGAA	0.587000													9	26					0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149212551	149212551	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:149212551C>T	ENST00000309241.5	+	5	947	c.915C>T	c.(913-915)ccC>ccT	p.P305P	PPARGC1B_ENST00000360453.4_Silent_p.P266P|PPARGC1B_ENST00000403750.1_Silent_p.P241P|PPARGC1B_ENST00000394320.3_Silent_p.P305P	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	305					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGAAGCTGCCCCCACAGACCC	0.662000													28	83					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42565979	42565979	+	Translation_Start_Site	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:42565979G>A	ENST00000230882.4	+	2	193	c.3G>A	c.(1-3)atG>atA	p.M1I	GHR_ENST00000357703.3_Start_Codon_SNP_p.M1I|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	1					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CTACAGGTATGGATCTCTGGC	0.448000													39	105					0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1317520	1317520	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chrX:1317520G>A	ENST00000381567.3	-	5	544	c.545C>T	c.(544-546)tCt>tTt	p.S182F	CRLF2_ENST00000467626.1_Intron	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	182	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GACCCAGAAAGAGTAACACTT	0.502000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								39	73					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28409144	28409144	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr10:28409144G>A	ENST00000337532.5	-	11	1142	c.866C>T	c.(865-867)cCc>cTc	p.P289L	MPP7_ENST00000375732.1_Missense_Mutation_p.P289L|MPP7_ENST00000445954.2_Missense_Mutation_p.P164L|MPP7_ENST00000540098.1_Missense_Mutation_p.P289L|MPP7_ENST00000375719.3_Missense_Mutation_p.P289L	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	289	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						ATGCTTTGAGGGGATCAAGCC	0.448000													43	38					0	0	1	0	0
PNPLA8	50640	broad.mit.edu	37	7	108155457	108155457	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:108155457T>C	ENST00000426128.2	-	2	604	c.479A>G	c.(478-480)tAt>tGt	p.Y160C	PNPLA8_ENST00000388728.5_Missense_Mutation_p.Y160C|PNPLA8_ENST00000453144.1_Missense_Mutation_p.Y60C|PNPLA8_ENST00000422087.1_Missense_Mutation_p.Y160C|PNPLA8_ENST00000257694.8_Missense_Mutation_p.Y160C|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000436062.1_Missense_Mutation_p.Y160C	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	160					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TTTGTCACTATATTTTTTCAG	0.333000													18	127					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238257018	238257018	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:238257018C>T	ENST00000295550.4	-	30	7392	c.6940G>A	c.(6940-6942)Gga>Aga	p.G2314R	COL6A3_ENST00000472056.1_Missense_Mutation_p.G1707R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2113R|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2108R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2114R|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2108R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2314	Collagen-like 5.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCAGGGAATCCTCTTTCTCCC	0.368000													43	79					0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15814976	15814976	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:15814976C>T	ENST00000281172.5	-	9	1230	c.794G>A	c.(793-795)cGc>cAc	p.R265H	EPS8_ENST00000543523.1_Missense_Mutation_p.R265H|EPS8_ENST00000543612.1_Missense_Mutation_p.R265H|EPS8_ENST00000540613.1_Missense_Mutation_p.R5H|EPS8_ENST00000542903.1_Missense_Mutation_p.R5H	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	265					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TCTGTCAATGCGGGCTGCCAT	0.388000													76	207					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315700	50315700	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr10:50315700G>A	ENST00000332853.3	-	2	419	c.396C>T	c.(394-396)atC>atT	p.I132I	VSTM4_ENST00000298454.3_Silent_p.I132I	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	132	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TGTGCCTGCTGATTTCCTGGA	0.617000													49	68					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41727828	41727828	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:41727828C>T	ENST00000301178.4	+	4	643	c.453C>T	c.(451-453)gcC>gcT	p.A151A	CTD-2195B23.3_ENST00000598541.1_RNA|AXL_ENST00000594880.1_3'UTR|AXL_ENST00000359092.3_Silent_p.A151A	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	151	Ig-like C2-type 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGACTGTGGCCGCCAACACCC	0.657000													5	30					0	0	1	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39448686	39448686	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:39448686G>A	ENST00000308521.5	+	7	1465	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	377				D -> Y (in Ref. 1; no nucleotide entry).	base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CAAGCTGCAGGAGATTCTCGA	0.502000													76	194					0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445491	29445491	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:29445491C>T	ENST00000544604.2	+	8	1497	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	ZNRF3_ENST00000332811.4_Missense_Mutation_p.S341F|ZNRF3_ENST00000406323.3_Missense_Mutation_p.S341F|ZNRF3_ENST00000402174.1_Missense_Mutation_p.S341F	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	441						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CGGGCCTACTCCCCAGCCCAC	0.647000													22	66					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39225864	39225864	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:39225864G>A	ENST00000340369.3	-	2	5301	c.5073C>T	c.(5071-5073)aaC>aaT	p.N1691N	XIRP1_ENST00000421646.1_Silent_p.N374N|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1691	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)		AGACATCAGGGTTGCCCTTAA	0.527000													42	78					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101177837	101177837	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:101177837G>A	ENST00000394095.2	-	4	299	c.246C>T	c.(244-246)atC>atT	p.I82I	SENP7_ENST00000348610.3_Silent_p.I49I|SENP7_ENST00000358203.3_Silent_p.I49I|SENP7_ENST00000394091.1_Silent_p.I49I|SENP7_ENST00000394094.2_Silent_p.I82I|SENP7_ENST00000314261.7_Silent_p.I82I	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	82					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GACACCCTCGGATATGTTTTT	0.328000													95	243					0	0	1	0	0
SLCO1B7	338821	broad.mit.edu	37	12	21172288	21172288	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:21172288G>A	ENST00000421593.2	+	2	192	c.192G>A	c.(190-192)atG>atA	p.M64I	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3			solute carrier organic anion transporter family, member 1B7 (non-functional)											endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GTATTTTGATGGCTTTACCAC	0.328000													30	71					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100280640	100280640	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:100280640G>A	ENST00000275732.5	-	19	3616	c.2407C>T	c.(2407-2409)Cga>Tga	p.R803*		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	803										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCACCACTCGGTGGTTGGGG	0.682000													7	19					0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104307077	104307077	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:104307077G>A	ENST00000389120.3	+	6	747	c.657G>A	c.(655-657)caG>caA	p.Q219Q		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	219					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AAGCAGTGCAGGAGCTGAACT	0.408000													29	83					0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113993096	113993096	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:113993096G>A	ENST00000429538.3	-	9	1156	c.962C>T	c.(961-963)cCt>cTt	p.P321L	PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000348715.5_Intron|PAX8_ENST00000263334.5_Intron|PAX8_ENST00000397647.3_Intron	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	321	Ser-rich.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TAAAGAGGAAGGGGTGGAGCT	0.597000			T	PPARG	follicular thyroid		Thyroid dysgenesis						7	38					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841397	8841397	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:8841397G>A	ENST00000324060.2	+	1	82	c.7G>A	c.(7-9)Gat>Aat	p.D3N		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AAACATGGGGGATGTGAATCA	0.498000													12	58					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92920275	92920275	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:92920275C>T	ENST00000532405.1	+	11	1138	c.912C>T	c.(910-912)ccC>ccT	p.P304P	SLC24A4_ENST00000393265.2_Silent_p.P240P|SLC24A4_ENST00000531433.1_Silent_p.P285P|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000298877.1_Silent_p.P287P|SLC24A4_ENST00000351924.5_Silent_p.P268P			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	304						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GCAAGAACCCCGTGGTGATGG	0.527000													31	34					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161139847	161139847	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:161139847C>T	ENST00000308192.9	+	9	1136	c.1073C>T	c.(1072-1074)tCc>tTc	p.S358F		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	358					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCCCAGTATCCACGGAACAA	0.507000													23	47					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6483959	6483959	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr10:6483959G>A	ENST00000263125.5	-	16	1831	c.1732C>T	c.(1732-1734)Cct>Tct	p.P578S	PRKCQ_ENST00000539722.1_Missense_Mutation_p.P453S|PRKCQ_ENST00000397176.2_Intron	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	578	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.P578S(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CCGTGGAAAGGCGACTGACCA	0.527000													19	108					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219558670	219558670	+	Missense_Mutation	SNP	C	C	T	rs150583201		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:219558670C>T	ENST00000295709.3	+	19	2579	c.2300C>T	c.(2299-2301)tCc>tTc	p.S767F	STK36_ENST00000392105.3_Missense_Mutation_p.S767F|STK36_ENST00000392106.2_Missense_Mutation_p.S767F|STK36_ENST00000440309.1_Missense_Mutation_p.S767F	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	767			S -> T (in dbSNP:rs17856748).|S -> Y (in an ovarian papillary serous adenocarcinoma sample; somatic mutation).		cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	p.S767T(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TACTTCCTCTCCCTTCTTGTC	0.448000													29	94					0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96077378	96077378	+	Silent	SNP	A	A	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:96077378A>T	ENST00000343702.4	-	6	1738	c.1290T>A	c.(1288-1290)cgT>cgA	p.R430R	NTN4_ENST00000344911.4_Silent_p.R393R|NTN4_ENST00000553059.1_Silent_p.R430R|NTN4_ENST00000538383.1_Silent_p.R393R	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	430	Laminin EGF-like 3.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ACCTGTCACAACGTCGCCCTG	0.597000													35	82					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97467544	97467544	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:97467544G>A	ENST00000389672.5	+	18	3430	c.3392G>A	c.(3391-3393)tGa>tAa	p.*1131*		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTTCATGTATGAAAGTACCAC	0.403000													4	25					0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	810213	810213	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:810213C>T	ENST00000297440.6	+	9	1909	c.1889C>T	c.(1888-1890)tCc>tTc	p.S630F	HEATR2_ENST00000403952.3_Missense_Mutation_p.S55F|HEATR2_ENST00000313147.5_Missense_Mutation_p.S630F	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	630							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TCCATCCTGTCCACCGTGCTG	0.692000													27	103					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752196	36752196	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:36752196G>A	ENST00000354618.5	+	4	589	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	THRAP3_ENST00000469141.2_Missense_Mutation_p.R122Q	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	122	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTCCTCGTCGAGGCCGTTCA	0.517000			T	USP6	aneurysmal bone cysts								6	378					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38802408	38802408	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:38802408G>A	ENST00000359357.3	+	30	3959	c.3705G>A	c.(3703-3705)caG>caA	p.Q1235Q	DNAH8_ENST00000441566.1_Silent_p.Q1235Q|DNAH8_ENST00000449981.2_Silent_p.Q1452Q					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACAGGCTACAGATATTTCAGG	0.318000													32	96					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3633497	3633497	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:3633497G>A	ENST00000294008.3	-	14	5394	c.4754C>T	c.(4753-4755)cCt>cTt	p.P1585L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1585	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTTAGGCAGAGGGCGGACTCC	0.557000								Direct reversal of damage					53	140					0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42085690	42085690	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:42085690G>A	ENST00000407170.2	+	4	838	c.25G>A	c.(25-27)Gtc>Atc	p.V9I	CEACAM21_ENST00000482870.2_Intron|CEACAM21_ENST00000401445.2_Intron|CEACAM21_ENST00000187608.9_Intron			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	0						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CTTTCTGTTGGTCACTCTATC	0.502000													18	58					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10907039	10907039	+	Splice_Site	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr21:10907039G>A	ENST00000298232.7	-	23	1835	c.1466_splice	c.e23-1	p.L490_splice	TPTE_ENST00000342420.5_Splice_Site_p.L470_splice|TPTE_ENST00000361285.4_Splice_Site_p.L508_splice|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	508	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		GGTAGATAAAGCCTAAGAATA	0.343000													4	57					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370128	126370128	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:126370128G>A	ENST00000394329.3	+	9	7970	c.7957G>A	c.(7957-7959)Gag>Aag	p.E2653K	FAT4_ENST00000335110.5_Missense_Mutation_p.E951K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2653	Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ctCCTCTTACGAGAAACTTGA	0.373000													34	98					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98216817	98216817	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:98216817G>A	ENST00000284049.3	-	21	3172	c.3023C>T	c.(3022-3024)cCt>cTt	p.P1008L		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1008					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TACAGTTAAAGGACCTGGTTC	0.289000													9	37					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118374090	118374090	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:118374090C>T	ENST00000534358.1	+	27	7506	c.7483C>T	c.(7483-7485)Ctt>Ttt	p.L2495F	KMT2A_ENST00000389506.5_Missense_Mutation_p.L2492F|KMT2A_ENST00000354520.4_Missense_Mutation_p.L2454F	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TGATAAAGGCCTTTCTATGCC	0.458000													32	28					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7677815	7677815	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:7677815C>T	ENST00000507866.2	+	9	1309	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F	SORCS2_ENST00000329016.9_Silent_p.F228F	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	400						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GTCAGGTGTTCGTGGCGGTGC	0.642000													9	14					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308635	140308635	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:140308635C>T	ENST00000253807.2	+	1	2158	c.2158C>T	c.(2158-2160)Cgc>Tgc	p.R720C	PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R720C|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGCTGTCGCTCTACAGA	0.468000													26	100					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66871429	66871429	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:66871429G>A	ENST00000269080.2	-	35	4620	c.4483C>T	c.(4483-4485)Ctt>Ttt	p.L1495F	ABCA8_ENST00000586539.1_Missense_Mutation_p.L1535F|ABCA8_ENST00000430352.2_Missense_Mutation_p.L1535F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1495						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGGGGGAAAAGCCTCAGGATC	0.468000													32	66					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51749610	51749610	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:51749610C>T	ENST00000543196.2	-	10	1940	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	GALNT6_ENST00000356317.3_Missense_Mutation_p.E579K			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	579	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCCCATTCCTCGTCCTTGGGG	0.547000													34	107					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16110374	16110374	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:16110374C>T	ENST00000399408.2	+	5	686	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	ABCC1_ENST00000345148.5_Missense_Mutation_p.R171C|ABCC1_ENST00000349029.5_Missense_Mutation_p.R171C|ABCC1_ENST00000399410.3_Missense_Mutation_p.R171C|ABCC1_ENST00000346370.5_Missense_Mutation_p.R171C|ABCC1_ENST00000351154.5_Missense_Mutation_p.R171C			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	171					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGACCTGTTTCGTGACATCAC	0.512000													48	327					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432572	140432572	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:140432572C>T	ENST00000306549.3	+	1	1594	c.1517C>T	c.(1516-1518)tCc>tTc	p.S506F		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		506	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTTACATATCCATAAATTCA	0.423000													14	38					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100061971	100061971	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:100061971C>T	ENST00000524871.1	+	14	1984	c.1694C>T	c.(1693-1695)tCg>tTg	p.S565L	CNTN5_ENST00000279463.3_Missense_Mutation_p.S565L|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.S565L|CNTN5_ENST00000527185.1_Missense_Mutation_p.S565L|CNTN5_ENST00000418526.2_Missense_Mutation_p.S491L	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	565	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATTATAGCTTCGCTATCTGTA	0.398000													8	36					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50225140	50225140	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr20:50225140G>A	ENST00000338821.5	-	25	2926	c.2662C>T	c.(2662-2664)Cct>Tct	p.P888S	ATP9A_ENST00000311637.5_Missense_Mutation_p.P752S|ATP9A_ENST00000402822.1_Missense_Mutation_p.P767S	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	888					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GAAAACACAGGAAACATGGTG	0.493000													81	106					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784662	151784662	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:151784662C>T	ENST00000255262.3	-	1	178	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	5					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			TGAAGTTTTTCCATCCCTGAC	0.453000													17	76					0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134215427	134215427	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:134215427G>A	ENST00000359579.4	+	2	419	c.99G>A	c.(97-99)aaG>aaA	p.K33K	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	33					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						AAGCAGTGAAGGTGGCCATTG	0.463000													35	165					0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307635	39307635	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:39307635G>A	ENST00000541347.1	-	2	605	c.366C>T	c.(364-366)gtC>gtT	p.V122V	CX3CR1_ENST00000358309.3_Silent_p.V154V|CX3CR1_ENST00000399220.2_Silent_p.V122V|CX3CR1_ENST00000542107.1_Silent_p.V122V	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	122			V -> I.		cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CAATGCTGATGACGGTGATGA	0.507000													89	74					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45309837	45309837	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:45309837G>A	ENST00000313237.5	-	5	846	c.696C>T	c.(694-696)atC>atT	p.I232I	PHF21B_ENST00000396103.3_Silent_p.I190I|PHF21B_ENST00000404079.2_Silent_p.I178I|PHF21B_ENST00000447824.3_Silent_p.I178I|PHF21B_ENST00000403565.1_Silent_p.I28I	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	232							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GCTGAATGATGATGACCTGGA	0.622000													55	134					0	0	1	0	0
MAD1L1	8379	broad.mit.edu	37	7	1855793	1855793	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:1855793G>A	ENST00000406869.1	-	19	2627	c.2070C>T	c.(2068-2070)atC>atT	p.I690I	MAD1L1_ENST00000265854.7_Silent_p.I690I|MAD1L1_ENST00000402746.1_Silent_p.I598I|MAD1L1_ENST00000399654.2_Silent_p.I690I			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	690					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GGTGCACCTCGATGAGCTCGC	0.642000													90	105					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407502	1407502	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chrX:1407502G>A	ENST00000381524.3	+	5	496	c.310G>A	c.(310-312)Gga>Aga	p.G104R	CSF2RA_ENST00000355805.2_Missense_Mutation_p.G104R|CSF2RA_ENST00000417535.2_Missense_Mutation_p.G104R|CSF2RA_ENST00000361536.3_Missense_Mutation_p.G104R|CSF2RA_ENST00000381509.3_Missense_Mutation_p.G104R|CSF2RA_ENST00000432318.2_Missense_Mutation_p.G104R|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.G104R|CSF2RA_ENST00000355432.3_Missense_Mutation_p.G104R|CSF2RA_ENST00000381500.1_Missense_Mutation_p.G104R			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	104						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TAGTCAAAGAGGATTTCAACA	0.443000													130	253					0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155204987	155204987	+	Splice_Site	SNP	G	G	A	rs80356771		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:155204987G>A	ENST00000428024.2	-	9	1745	c.1244_splice	c.e9+1	p.R415_splice	GBA_ENST00000327247.5_Splice_Site_p.R502_splice|GBA_ENST00000368373.3_Splice_Site_p.R502_splice|GBA_ENST00000536770.1_Splice_Site_p.R389_splice|GBA_ENST00000427500.2_Splice_Site_p.R453_splice	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	502					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TGCCCTCACCGGTTTAGCACG	0.607000									Gaucher disease type I				15	144					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488520	108488520	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:108488520G>A	ENST00000408999.3	+	20	4137	c.4060G>A	c.(4060-4062)Gaa>Aaa	p.E1354K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1354K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1354	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGAGGAAAATGAAAAAGTTGT	0.368000													144	299					0	0	1	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28333859	28333859	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:28333859G>A	ENST00000377255.3	+	7	1711	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.E324K|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.E472K	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	472				QGEAWKSRMESQLENVETPMS -> TGRGWKVGWKASWKML KLPCP (in Ref. 5; AAB16813).	positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AAGCCAGTTGGAAAATGTTGA	0.418000													23	60					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27057849	27057849	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:27057849C>T	ENST00000324856.7	+	3	1928	c.1557C>T	c.(1555-1557)tcC>tcT	p.S519S	ARID1A_ENST00000457599.2_Silent_p.S519S|ARID1A_ENST00000374152.2_Silent_p.S136S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	519					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)		CTCCATACTCCCAGCAGCCAT	0.637000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								199	445					0	0	1	0	0
GALM	130589	broad.mit.edu	37	2	38956698	38956698	+	Splice_Site	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:38956698G>A	ENST00000272252.5	+	5	887	c.634_splice	c.e5-1	p.G212_splice	GALM_ENST00000410063.1_Splice_Site_p.G64_splice	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	212					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				TTCCCATCAGGAGAAGTTGCC	0.478000													37	93					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1488268	1488268	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:1488268C>T	ENST00000297508.7	-	3	497	c.322G>A	c.(322-324)Ggc>Agc	p.G108S	MICALL2_ENST00000405088.4_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	108						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGGGAGCGGCCGTGGAAGTAG	0.647000													57	177					0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67577102	67577102	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:67577102C>T	ENST00000540839.3	+	14	2693	c.2473C>T	c.(2473-2475)Cgt>Tgt	p.R825C	FAM65A_ENST00000042381.4_Missense_Mutation_p.R805C|FAM65A_ENST00000379312.3_Missense_Mutation_p.R809C|FAM65A_ENST00000422602.2_Missense_Mutation_p.R825C|FAM65A_ENST00000428437.2_Missense_Mutation_p.R819C			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	809						cytoplasm	binding	p.R805C(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GGATGACTACCGTGGCCAGTT	0.662000													15	23					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101774462	101774462	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:101774462G>A	ENST00000506729.1	-	7	1306	c.1135C>T	c.(1135-1137)Ctg>Ttg	p.L379L	SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Silent_p.L379L|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Silent_p.L317L			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	379						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTCTTCATCAGAATCTGaaat	0.274000													11	52					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238296802	238296802	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:238296802G>A	ENST00000295550.4	-	4	1187	c.735C>T	c.(733-735)ttC>ttT	p.F245F	COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000353578.4_Silent_p.F39F|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000346358.4_Silent_p.F245F|COL6A3_ENST00000409809.1_Silent_p.F39F|COL6A3_ENST00000392004.3_Silent_p.F39F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	245	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CATCAATAAGGAAAATAATGT	0.378000													24	77					0	0	1	0	0
MIR4485	100616263	broad.mit.edu	37	MT	1792	1792	+	RNA	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chrM:1792G>A	ENST00000387347.2	+	0	122					NR_039705.1																						TAGTACCGCAAGGGAAAGATG	0.383000													5	317					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285476	152285476	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:152285476C>T	ENST00000368799.1	-	3	1921	c.1886G>A	c.(1885-1887)gGa>gAa	p.G629E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	629	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTGAGTGTCCCTGACTGTC	0.567000									Ichthyosis				259	422					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123482005	123482005	+	Missense_Mutation	SNP	C	C	T	rs142319238	by1000genomes	TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:123482005C>T	ENST00000280562.5	-	10	1544	c.1339G>A	c.(1339-1341)Ggc>Agc	p.G447S	PITPNM2_ENST00000392428.1_Missense_Mutation_p.G168S|PITPNM2_ENST00000542749.1_Missense_Mutation_p.G447S|PITPNM2_ENST00000320201.4_Missense_Mutation_p.G447S			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	447					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TTAGCATCGCCCTTCTTGGAG	0.687000													69	141					0	0	1	0	0
FAM209B	388799	broad.mit.edu	37	20	55111330	55111330	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr20:55111330G>A	ENST00000371325.1	+	2	448	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_001013646.2	NP_001013668.2	Q5JX69	CT107_HUMAN	family with sequence similarity 209, member B	118						integral to membrane											TACCTTAAACGAACTTGAAGT	0.443000													42	166					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99640024	99640024	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr10:99640024C>T	ENST00000370597.3	-	14	2156	c.1801G>A	c.(1801-1803)Gat>Aat	p.D601N	CRTAC1_ENST00000370591.2_Missense_Mutation_p.D601N|CRTAC1_ENST00000298819.4_Silent_p.R586R	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	601	EGF-like.					proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GCTGTGCCATCCTCGTTGGGC	0.592000													44	89					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155203370	155203370	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:155203370G>A	ENST00000460012.1	-	22	3016	c.2659C>T	c.(2659-2661)Cca>Tca	p.P887S	PLCH1_ENST00000340059.7_Missense_Mutation_p.P925S|PLCH1_ENST00000334686.6_Missense_Mutation_p.P887S|PLCH1_ENST00000494598.1_Missense_Mutation_p.P905S|PLCH1_ENST00000447496.2_Missense_Mutation_p.P925S|PLCH1_ENST00000414191.1_Missense_Mutation_p.P887S			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	925					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)			CCTTTGGCTGGGGCGCTAGCT	0.473000													36	94					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79188074	79188074	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:79188074C>T	ENST00000264895.6	+	8	1214	c.774C>T	c.(772-774)ccC>ccT	p.P258P	FRAS1_ENST00000325942.6_Silent_p.P258P|FRAS1_ENST00000264899.6_Silent_p.P258P	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	258	VWFC 4.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTGCCTGCCCCTGAGATGCG	0.502000													8	17					0	0	1	0	0
TRBV29-1	28558	broad.mit.edu	37	7	142448667	142448667	+	RNA	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:142448667C>T	ENST00000422143.2	+	0	328																											GCCGCCCAAACCTAACATTCT	0.498000													30	37					0	0	1	0	0
NFAM1	150372	broad.mit.edu	37	22	42807474	42807474	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:42807474G>A	ENST00000329021.5	-	2	427	c.390C>T	c.(388-390)taC>taT	p.Y130Y		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	130	Ig-like V-type.				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						GGACAGAGCAGTAGTAGGTGC	0.617000													4	71					0	0	1	0	0
SLC46A3	283537	broad.mit.edu	37	13	29284912	29284912	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr13:29284912G>A	ENST00000266943.6	-	4	1498	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	SLC46A3_ENST00000380814.4_Missense_Mutation_p.R377C	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	377					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		TCAGTCGAACGAACCACTTTT	0.388000													45	75					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52848273	52848273	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:52848273G>A	ENST00000266041.4	-	22	2674	c.2578C>T	c.(2578-2580)Ctt>Ttt	p.L860F	ITIH4_ENST00000346281.5_Missense_Mutation_p.L844F|ITIH4_ENST00000485816.1_Missense_Mutation_p.L865F|ITIH4_ENST00000406595.1_Missense_Mutation_p.L830F	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	860					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TCACGCAGAAGGAGCCGGAGC	0.612000													7	23					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110226377	110226377	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:110226377C>T	ENST00000418703.2	-	12	2130	c.2036G>A	c.(2035-2037)gGc>gAc	p.G679D	TRPV4_ENST00000544971.1_Missense_Mutation_p.G572D|TRPV4_ENST00000541794.1_Missense_Mutation_p.G632D|TRPV4_ENST00000537083.1_Missense_Mutation_p.G619D|TRPV4_ENST00000346520.2_Missense_Mutation_p.G619D|TRPV4_ENST00000536838.1_Missense_Mutation_p.G645D|TRPV4_ENST00000261740.2_Missense_Mutation_p.G679D|TRPV4_ENST00000392719.2_Missense_Mutation_p.G632D	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	679					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GTCGCCCATGCCGATGGTCAG	0.567000													5	240					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640269	7640269	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:7640269C>T	ENST00000396620.3	-	7	1920	c.1835G>A	c.(1834-1836)gGa>gAa	p.G612E	CD163_ENST00000432237.2_Splice_Site_p.R579_splice|CD163_ENST00000359156.4_Splice_Site_p.R579_splice|CD163_ENST00000541972.1_Splice_Site_p.R567_splice			Q86VB7	C163A_HUMAN	CD163 molecule	579	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTCTGTGTATCCTGGAAGGAG	0.488000													44	138					0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67692883	67692883	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:67692883G>A	ENST00000219251.8	-	7	1173	c.842C>T	c.(841-843)cCt>cTt	p.P281L	ACD_ENST00000393919.4_Missense_Mutation_p.P284L	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	284	Interaction with POT1.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGCTGTGCAAGGGCCCTCCAG	0.617000													65	125					0	0	1	0	0
AC005609.1	0	broad.mit.edu	37	5	140242889	140242889	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:140242889C>T	ENST00000502505.1	-	1	335	c.87G>A	c.(85-87)caG>caA	p.Q29Q	PCDHA14_ENST00000562220.1_RNA|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron																							TCATCGCCATCTGCGTGGTGT	0.642000													19	83					0	0	1	0	0
NEK4	6787	broad.mit.edu	37	3	52775445	52775445	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:52775445T>A	ENST00000233027.5	-	13	2277	c.2075A>T	c.(2074-2076)gAt>gTt	p.D692V	NEK4_ENST00000535191.1_Missense_Mutation_p.D603V|NEK4_ENST00000383721.4_Missense_Mutation_p.D646V	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	692					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		GTAATCCCCATCTGACTTATC	0.318000													30	36					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701769	56701769	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:56701769G>A	ENST00000586855.2	-	5	1228	c.915C>T	c.(913-915)tcC>tcT	p.S305S	ZSCAN5B_ENST00000358992.3_Silent_p.S305S			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	305					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTTGGGAAATGGAGGAGGCAT	0.542000													68	163					0	0	1	0	0
DPPA3P2	400206	broad.mit.edu	37	14	36841100	36841100	+	RNA	SNP	T	T	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:36841100T>A	ENST00000557188.1	+	0	731																											CAGCCATAAATCTTATTCTTG	0.368000													12	112					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8152832	8152832	+	Splice_Site	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:8152832C>T	ENST00000600128.1	-	53	6911		c.e53-1		FBN3_ENST00000601739.1_Splice_Site|FBN3_ENST00000270509.2_Splice_Site			Q75N90	FBN3_HUMAN	fibrillin 3							proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TCGTCGATGTCTGGGGAGGCC	0.667000													31	99					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228550	21228550	+	Silent	SNP	G	G	A	rs75165693		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:21228550G>A	ENST00000233242.1	-	26	11317	c.11190C>T	c.(11188-11190)ttC>ttT	p.F3730F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3730					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGGAATAATGAATTTATCAG	0.408000													34	206					0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68517825	68517825	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:68517825C>T	ENST00000443940.2	-	2	390	c.304G>A	c.(304-306)Gag>Aag	p.E102K	MTL5_ENST00000255087.5_Missense_Mutation_p.E102K|MTL5_ENST00000544963.1_Missense_Mutation_p.E102K			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	102					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GCGCTGAGCTCTGGGATCCCG	0.751000													7	5					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43127542	43127542	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:43127542C>T	ENST00000230419.4	+	19	3111	c.2890C>T	c.(2890-2892)Cgc>Tgc	p.R964C	PTK7_ENST00000352931.2_Missense_Mutation_p.R908C|PTK7_ENST00000345201.2_Missense_Mutation_p.R924C|PTK7_ENST00000481273.1_Missense_Mutation_p.R972C|PTK7_ENST00000349241.2_Missense_Mutation_p.R834C	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	964	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTACCACTTCCGCCAGGCCTG	0.632000													28	68					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35066012	35066012	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:35066012C>T	ENST00000382002.5	-	10	1474	c.1048G>A	c.(1048-1050)Ggc>Agc	p.G350S	PRLR_ENST00000511486.1_Missense_Mutation_p.G249S|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.G249S|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	350					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CTCCCCCGGCCTGAGTCAGTG	0.498000													22	72					0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122068286	122068286	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:122068286C>T	ENST00000454328.1	-	9	880	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	TNIP3_ENST00000057513.3_Missense_Mutation_p.R218Q|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000509841.1_Missense_Mutation_p.R295Q|TNIP3_ENST00000507879.1_Missense_Mutation_p.R288Q			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	218										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AAGTCTCTCTCGATCCGATCG	0.373000													41	120					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254859	51254859	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:51254859G>A	ENST00000404971.1	-	2	1892	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	NRXN1_ENST00000406859.3_Missense_Mutation_p.R185C|NRXN1_ENST00000406316.2_Missense_Mutation_p.R185C|NRXN1_ENST00000401669.2_Missense_Mutation_p.R185C|NRXN1_ENST00000405472.3_Missense_Mutation_p.R185C|NRXN1_ENST00000405581.1_Missense_Mutation_p.R185C|NRXN1_ENST00000402717.3_Missense_Mutation_p.R185C	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	185	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCACGTCACGAATCCACCCC	0.706000													7	17					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110030330	110030330	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:110030330C>T	ENST00000369870.3	+	5	619	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	202										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CGAGATCATCCCCAGTGAGGG	0.607000													64	155					0	0	1	0	0
HSFY1P1	27437	broad.mit.edu	37	22	17308674	17308674	+	RNA	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:17308674C>T	ENST00000425038.1	+	0	311					NR_003607.1																						CTTCTCTGACCTTTCCCAGTA	0.348000													4	23					0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100208729	100208729	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:100208729G>A	ENST00000209668.2	-	2	225	c.112C>T	c.(112-114)Cgt>Tgt	p.R38C	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	38					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	ACCTTAATACGAACTTCATGG	0.348000													20	68					0	0	1	0	0
RNF215	200312	broad.mit.edu	37	22	30780445	30780445	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:30780445G>A	ENST00000382363.3	-	5	701	c.627C>T	c.(625-627)tcC>tcT	p.S209S		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	209						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						TGGCAGACAGGGACTCTCCGC	0.612000													23	62					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41018492	41018492	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:41018492C>T	ENST00000399564.4	-	27	3164	c.2714G>A	c.(2713-2715)aGa>aAa	p.R905K	MROH2B_ENST00000506092.2_Missense_Mutation_p.R460K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GGCTCTTTCTCTTTCCCACTC	0.373000													6	15					0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167753838	167753838	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:167753838C>T	ENST00000239587.5	+	3	538	c.450C>T	c.(448-450)acC>acT	p.T150T		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	150	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACCCTGGAACCACCAAGCTTA	0.527000													13	74					0	0	1	0	0
NMD3	51068	broad.mit.edu	37	3	160958945	160958945	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:160958945C>T	ENST00000460469.1	+	9	1320	c.865C>T	c.(865-867)Cta>Tta	p.L289L	NMD3_ENST00000351193.2_Silent_p.L289L|NMD3_ENST00000472947.1_Silent_p.L289L			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	289					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TCCAAACACCCTACAAGGTAA	0.358000													18	82					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179611630	179611630	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:179611630G>A	ENST00000360870.5	-	46	15719	c.15497C>T	c.(15496-15498)tCa>tTa	p.S5166L	TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	7083	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTACCAAATGAATCGGAACG	0.398000													38	150					0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182987826	182987826	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:182987826G>A	ENST00000326505.3	+	2	770	c.240G>A	c.(238-240)aaG>aaA	p.K80K	MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000465010.1_Silent_p.K80K|B3GNT5_ENST00000460419.1_Silent_p.K80K	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	80					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTAACCACAAGGAAAAGTGTC	0.438000													37	114					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10398257	10398257	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:10398257C>T	ENST00000226207.5	-	37	5551	c.5457G>A	c.(5455-5457)ctG>ctA	p.L1819L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1819						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCCTGGCCTCCAGTTTCTGGA	0.512000													49	117					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955510	18955510	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:18955510G>A	ENST00000302797.3	-	1	1046	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	274					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGAGCCCACGAAGAAGTAAA	0.512000													35	53					0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135768299	135768299	+	Splice_Site	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:135768299C>T	ENST00000367800.4	-	11	1843		c.e11-1		AHI1_ENST00000327035.6_Splice_Site|AHI1_ENST00000457866.2_Splice_Site	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1							adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		ATGGCTTTATCTAAATATGCA	0.318000													24	60					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173499181	173499181	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:173499181T>A	ENST00000367714.3	-	18	2598	c.2176A>T	c.(2176-2178)Ata>Tta	p.I726L	SLC9C2_ENST00000536496.1_3'UTR|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	726					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CTTATCAGTATTGGTACTATT	0.358000													31	59					0	0	1	0	0
LELP1	149018	broad.mit.edu	37	1	153177332	153177332	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:153177332A>G	ENST00000368747.1	+	2	259	c.149A>G	c.(148-150)gAa>gGa	p.E50G		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	50	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCCATGGGAAAAGTGTCCA	0.557000													74	137					0	0	1	0	0
ATP6V0E2	155066	broad.mit.edu	37	7	149575854	149575854	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:149575854G>A	ENST00000456496.2	+	3	1338	c.387G>A	c.(385-387)tgG>tgA	p.W129*	ATP6V0E2_ENST00000425642.2_Nonsense_Mutation_p.W80*|ATP6V0E2_ENST00000479613.1_Intron|ATP6V0E2_ENST00000606024.1_Intron|ATP6V0E2_ENST00000421974.2_Intron|ATP6V0E2_ENST00000495408.1_3'UTR|ATP6V0E2_ENST00000464662.1_Nonsense_Mutation_p.W80*	NM_145230.2	NP_660265.2	Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2	80					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			GCTTCCTGTGGGAGTGACCCG	0.662000													31	122					0	0	1	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1335173	1335173	+	Splice_Site	SNP	G	G	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:1335173G>T	ENST00000320895.5	-	6	1052	c.796_splice	c.e6+1	p.F265_splice	CLPTM1L_ENST00000320927.6_Splice_Site_p.F265_splice|CLPTM1L_ENST00000507807.1_Splice_Site_p.F132_splice	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	265					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GGCACATACCGAACTGCTGCA	0.687000													15	51					7.93312e-07	7.9836e-07	1	1	0
DDX41	51428	broad.mit.edu	37	5	176942259	176942259	+	Splice_Site	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:176942259G>A	ENST00000507955.1	-	7	1095	c.571_splice	c.e7-1	p.A191_splice	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	191				A -> T (in Ref. 2; BAA91585).	apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TCTCAGGATGGCTATGAAAAC	0.522000													33	96					0	0	1	0	0
CLK1	1195	broad.mit.edu	37	2	201719762	201719762	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:201719762G>A	ENST00000434813.2	-	10	1565	c.1231C>T	c.(1231-1233)Ctt>Ttt	p.L411F	CLK1_ENST00000409769.2_Missense_Mutation_p.L192F|CLK1_ENST00000321356.4_Missense_Mutation_p.L369F	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	369	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TATTCAATAAGAATGCATCCT	0.363000													18	94					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98242860	98242860	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:98242860G>A	ENST00000430669.2	-	6	1144	c.559C>T	c.(559-561)Cct>Tct	p.P187S	PTCH1_ENST00000331920.6_Missense_Mutation_p.P253S|PTCH1_ENST00000429896.2_Missense_Mutation_p.P102S|PTCH1_ENST00000418258.1_Missense_Mutation_p.P102S|PTCH1_ENST00000437951.1_Missense_Mutation_p.P187S|PTCH1_ENST00000421141.1_Missense_Mutation_p.P102S|PTCH1_ENST00000375274.2_Missense_Mutation_p.P252S|PTCH1_ENST00000548379.1_5'UTR			Q13635	PTC1_HUMAN	patched 1	253					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CACCGCAAAGGAGGTTTACCT	0.453000													44	89					0	0	1	0	0
KCNE1	3753	broad.mit.edu	37	21	35821832	35821832	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr21:35821832G>A	ENST00000337385.3	-	3	476	c.101C>T	c.(100-102)tCc>tTc	p.S34F	KCNE1_ENST00000432085.1_Missense_Mutation_p.S34F|KCNE1_ENST00000399289.3_Missense_Mutation_p.S34F|KCNE1_ENST00000416357.2_Missense_Mutation_p.S34F|KCNE1_ENST00000399284.1_Missense_Mutation_p.S34F|KCNE1_ENST00000399286.2_Missense_Mutation_p.S34F	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	34					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	GCTGCGGGGGGACCTGCGGGC	0.607000													35	74					0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152695712	152695712	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:152695712G>A	ENST00000360283.6	-	13	1642	c.1385C>T	c.(1384-1386)tCa>tTa	p.S462L	CACNB4_ENST00000534999.1_Missense_Mutation_p.S461L|CACNB4_ENST00000397327.2_Missense_Mutation_p.S448L|CACNB4_ENST00000201943.5_Missense_Mutation_p.S433L|CACNB4_ENST00000539935.1_Missense_Mutation_p.S495L|CACNB4_ENST00000427385.1_Missense_Mutation_p.S477L			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	495					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	GTCCTGGTATGAGTCAGGGTA	0.458000													21	52					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95726852	95726852	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:95726852C>T	ENST00000324972.6	+	17	2078	c.1885C>T	c.(1885-1887)Cgt>Tgt	p.R629C	DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.R609C|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.R612C|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.R592C|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.R612C	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	629					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TGTGGAAATTCGTGCTAACAG	0.488000													8	117					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124323139	124323139	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:124323139G>A	ENST00000409039.3	+	28	4710	c.4685G>A	c.(4684-4686)aGa>aAa	p.R1562K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1562	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GATTCGAAGAGAAATGCTTTC	0.517000													19	193					0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78172544	78172544	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:78172544C>T	ENST00000369947.2	-	1	946	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	193					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	ACCTCCTCTTCGGCCTTAGCC	0.592000													46	89					0	0	1	0	0
RPAP2	79871	broad.mit.edu	37	1	92789933	92789933	+	Splice_Site	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:92789933G>A	ENST00000370343.3	+	8	1564		c.e8+1			NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2							integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CTCAGAAGAGGTATGTCTTAC	0.373000													20	55					0	0	1	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967575	142967575	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chrX:142967575G>A	ENST00000370494.1	+	1	403	c.373G>A	c.(373-375)Gat>Aat	p.D125N		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	125							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ATTAGCAAATGATGTAGTGGA	0.448000													51	46					0	0	1	0	0
STIM1	6786	broad.mit.edu	37	11	4091302	4091302	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:4091302C>T	ENST00000300737.4	+	6	1229	c.660C>T	c.(658-660)atC>atT	p.I220I	STIM1_ENST00000533977.1_Silent_p.I47I|STIM1_ENST00000527651.1_Silent_p.I220I	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	220					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TGGTGTCTATCGTTATTGGTG	0.527000													43	67					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113208209	113208209	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:113208209C>T	ENST00000401783.2	-	26	4707	c.4371G>A	c.(4369-4371)atG>atA	p.M1457I	SVEP1_ENST00000302728.8_Missense_Mutation_p.M1457I|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.M1434I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1457	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGAGGATTTCATCCAGAAGG	0.453000													35	89					0	0	1	0	0
ATP6AP1L	92270	broad.mit.edu	37	5	81613845	81613845	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:81613845G>A	ENST00000380167.4	+	10	1726	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.R134Q			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	134					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						AAGGGGGGACGATTTACCAAA	0.552000													14	55					0	0	1	0	0
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													4	23					0.0215528	0.0215528	1	1	0
HS3ST1	9957	broad.mit.edu	37	4	11401099	11401099	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:11401099G>A	ENST00000002596.5	-	2	1705	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	177						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CGCGCACCAGGAACTCCTCGA	0.592000													22	108					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065699	9065699	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:9065699C>T	ENST00000397910.4	-	3	21950	c.21747G>A	c.(21745-21747)agG>agA	p.R7249R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7251	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCCTGTCTCCCTCAATTTAG	0.488000													32	140					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	120053654	120053654	+	Missense_Mutation	SNP	G	G	A	rs148902327	by1000genomes	TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:120053654G>A	ENST00000313400.4	-	2	681	c.581C>T	c.(580-582)cCc>cTc	p.P194L	ASTN2_ENST00000361209.2_Missense_Mutation_p.P194L|ASTN2_ENST00000373996.3_Missense_Mutation_p.P194L|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	194						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AATCTCCGAGGGCTCCTGGAG	0.607000													19	77					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231404083	231404083	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:231404083C>T	ENST00000340126.4	+	25	2227	c.2196C>T	c.(2194-2196)tcC>tcT	p.S732S	AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	480					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACATCCCATCCGTGGAAGCTA	0.502000													27	53					0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4388918	4388918	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:4388918G>A	ENST00000408920.2	-	1	698	c.608C>T	c.(607-609)tCc>tTc	p.S203F		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATTAGAATGGAAAACCCATA	0.383000													23	46					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10886400	10886400	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:10886400A>T	ENST00000314646.5	+	4	571	c.407A>T	c.(406-408)gAc>gTc	p.D136V	DNM2_ENST00000585892.1_Missense_Mutation_p.D136V|DNM2_ENST00000408974.4_Missense_Mutation_p.D136V|DNM2_ENST00000389253.4_Missense_Mutation_p.D136V|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000355667.6_Missense_Mutation_p.D136V|DNM2_ENST00000359692.6_Missense_Mutation_p.D136V			P50570	DYN2_HUMAN	dynamin 2	136					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ACCCTCATCGACCTCCCGGGT	0.592000			"""F, N, Splice, Mis, O"""		ETP ALL								8	408					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160714933	160714933	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:160714933T>C	ENST00000263636.4	-	16	2350	c.2323A>G	c.(2323-2325)Att>Gtt	p.I775V	LY75_ENST00000554112.1_Missense_Mutation_p.I775V|LY75_ENST00000553424.1_Missense_Mutation_p.I775V|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.I775V|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.I775V	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CTCAAATAAATAAATTCTCTA	0.358000													16	66					0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26534617	26534617	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:26534617C>T	ENST00000333478.6	-	8	1964	c.1382G>A	c.(1381-1383)cGa>cAa	p.R461Q	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Missense_Mutation_p.R263Q|GPR113_ENST00000421160.2_Missense_Mutation_p.R591Q|GPR113_ENST00000311519.1_Missense_Mutation_p.R660Q	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	660					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCAGTTTTCGCAGCACCAG	0.547000													17	25					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48151560	48151560	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:48151560C>T	ENST00000320031.8	+	9	1628	c.1298C>T	c.(1297-1299)tCc>tTc	p.S433F	ITGA3_ENST00000544892.1_Missense_Mutation_p.S208F|ITGA3_ENST00000007722.7_Missense_Mutation_p.S433F	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	433					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TTCGGCTATTCCCTCAGTGGG	0.612000													89	125					0	0	1	0	0
RRAD	6236	broad.mit.edu	37	16	66956215	66956215	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:66956215C>A	ENST00000299759.6	-	5	941	c.691G>T	c.(691-693)Gag>Tag	p.E231*	RRAD_ENST00000420652.1_Nonsense_Mutation_p.E231*			P55042	RAD_HUMAN	Ras-related associated with diabetes	231					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GCTGATGTCTCAATGAACTTG	0.592000													31	81					5.8336e-16	5.93364e-16	1	1	0
TYRP1	7306	broad.mit.edu	37	9	12695537	12695537	+	Silent	SNP	A	A	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:12695537A>G	ENST00000388918.5	+	3	537	c.408A>G	c.(406-408)ttA>ttG	p.L136L	TYRP1_ENST00000381137.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	136					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCTGGACTTAAGTAAAGAAG	0.423000									Oculocutaneous Albinism				36	50					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031486	79031486	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:79031486G>A	ENST00000446378.2	+	2	6929	c.6898G>A	c.(6898-6900)Gaa>Aaa	p.E2300K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2300						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CGATTCAGAGGAAATGAACAT	0.348000													26	83					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160240152	160240152	+	Splice_Site	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:160240152G>A	ENST00000275275.5	+	17	1570	c.1400_splice	c.e17+1	p.D467_splice	PNLDC1_ENST00000392167.3_Splice_Site_p.D478_splice	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	467						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TAAGTTTAAGGAGTAGGTGCC	0.537000													47	58					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231135334	231135334	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:231135334G>A	ENST00000392045.3	+	15	1592	c.1478G>A	c.(1477-1479)gGa>gAa	p.G493E	SP140_ENST00000343805.6_Missense_Mutation_p.G433E|SP140_ENST00000417495.3_Missense_Mutation_p.G379E|SP140_ENST00000350136.5_Missense_Mutation_p.G362E|SP140_ENST00000420434.3_Missense_Mutation_p.G466E|SP140_ENST00000486687.2_Missense_Mutation_p.G417E	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	493					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCCACTTTGGGAAAACCCAAG	0.289000													15	80					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004680	248004680	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:248004680C>T	ENST00000355784.2	-	1	574	c.519G>A	c.(517-519)caG>caA	p.Q173Q		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AATGGTTAATCTGATTGCGCC	0.537000													51	128					0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88367411	88367411	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:88367411G>A	ENST00000419482.2	+	1	113	c.28G>A	c.(28-30)Gag>Aag	p.E10K	SMYD1_ENST00000444564.2_Missense_Mutation_p.E10K|SMYD1_ENST00000438570.1_Missense_Mutation_p.E10K	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGAGAACGTGGAGGTCTTCAC	0.522000													44	314					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27089607	27089607	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:27089607C>T	ENST00000324856.7	+	8	2934	c.2563C>T	c.(2563-2565)Cca>Tca	p.P855S	ARID1A_ENST00000457599.2_Missense_Mutation_p.P855S|ARID1A_ENST00000374152.2_Missense_Mutation_p.P472S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	855					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)		CACACTCCCTCCAGGGAGGAT	0.602000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								20	139					0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103556037	103556037	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:103556037G>A	ENST00000226578.4	-	16	2422	c.2323C>T	c.(2323-2325)Ctt>Ttt	p.L775F	MANBA_ENST00000505239.1_Missense_Mutation_p.L718F	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	775					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TCAGCTGAAAGGTAAAAGGAA	0.537000													21	78					0	0	1	0	0
CIRH1A	84916	broad.mit.edu	37	16	69184445	69184445	+	Silent	SNP	A	A	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:69184445A>G	ENST00000563094.1	+	7	778	c.744A>G	c.(742-744)gaA>gaG	p.E248E	CIRH1A_ENST00000569615.2_3'UTR|CIRH1A_ENST00000352319.4_Silent_p.E248E|CIRH1A_ENST00000314423.7_Silent_p.E248E			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	248						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CTCAGCAAGAAGACAGTTTCG	0.488000											OREG0023906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	77	184					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15596435	15596435	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chrX:15596435G>A	ENST00000427411.1	-	10	1290	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	ACE2_ENST00000252519.3_Silent_p.I358I	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	358					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TGCACATAAGGATCCTGCATG	0.413000													15	10					0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24590672	24590672	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:24590672C>T	ENST00000446197.3	+	13	2072	c.1345C>T	c.(1345-1347)Cat>Tat	p.H449Y	DCAF11_ENST00000396941.4_Missense_Mutation_p.H423Y|DCAF11_ENST00000559115.1_Missense_Mutation_p.H449Y|RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.S38L|DCAF11_ENST00000396936.1_Missense_Mutation_p.H349Y	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	449						CUL4 RING ubiquitin ligase complex	protein binding										CTCCCCCATTCATAGCACTGG	0.597000													29	51					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82073145	82073145	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:82073145C>T	ENST00000395578.1	-	8	1170	c.1054G>A	c.(1054-1056)Gga>Aga	p.G352R	PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.G352R|PRKG2_ENST00000264399.1_Missense_Mutation_p.G352R			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	352					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AAGTATTCTCCTTTCTGCAGT	0.328000													49	152					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50929253	50929253	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr18:50929253G>A	ENST00000442544.2	+	19	3541	c.2925G>A	c.(2923-2925)ggG>ggA	p.G975G	DCC_ENST00000412726.1_Silent_p.G803G|DCC_ENST00000581580.1_Silent_p.G610G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	975	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAGCCAATGGGAAAATTACTG	0.532000													70	149					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117724304	117724304	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:117724304C>T	ENST00000368508.3	-	6	773	c.575G>A	c.(574-576)gGa>gAa	p.G192E	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.G201E	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	192					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CACCATACCTCCATGAGGATG	0.408000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								44	84					0	0	1	0	0
MFSD7	84179	broad.mit.edu	37	4	679663	679663	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:679663G>A	ENST00000322224.4	-	4	859	c.546C>T	c.(544-546)tcC>tcT	p.S182S	MFSD7_ENST00000503156.1_Silent_p.S118S|MFSD7_ENST00000347950.5_Intron|MFSD7_ENST00000515118.1_Intron|MFSD7_ENST00000404286.2_Silent_p.S182S			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	182					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CCAGCACAGGGGACAGCACAT	0.612000													25	73					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411430	105411430	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:105411430G>A	ENST00000333244.5	-	7	10477	c.10358C>T	c.(10357-10359)gCg>gTg	p.A3453V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3453						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)			CTCCAGCCGCGCACCATCCAG	0.597000													6	418					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54435225	54435225	+	Silent	SNP	T	T	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr15:54435225T>A	ENST00000537900.1	+	2	2994	c.2994T>A	c.(2992-2994)tcT>tcA	p.S998S	UNC13C_ENST00000545554.1_Intron|UNC13C_ENST00000260323.11_Silent_p.S998S			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	998					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATAGCAGTTCTGTGGATGAAA	0.323000													28	98					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61610449	61610449	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:61610449G>A	ENST00000398571.2	-	6	852	c.776C>T	c.(775-777)cCc>cTc	p.P259L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	259					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CATGACAGCGGGAATATGTAG	0.274000													19	43					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158914763	158914763	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:158914763C>T	ENST00000368140.1	+	7	1535	c.1290C>T	c.(1288-1290)acC>acT	p.T430T	PYHIN1_ENST00000392252.3_Silent_p.T421T|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Silent_p.T430T|PYHIN1_ENST00000368138.3_Silent_p.T421T	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	430					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CCAGCACAACCCTACCTGAAA	0.498000													54	102					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52919816	52919816	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:52919816C>T	ENST00000360465.3	+	7	2137	c.1711C>T	c.(1711-1713)Cat>Tat	p.H571Y	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCTTGCAATCCATACTGAAAA	0.413000													23	78					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23802485	23802485	+	Missense_Mutation	SNP	A	A	C	rs113486572		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:23802485A>C	ENST00000354639.3	+	11	1754	c.1290A>C	c.(1288-1290)gaA>gaC	p.E430D	STK31_ENST00000428484.1_Missense_Mutation_p.E430D|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.E453D|STK31_ENST00000433467.2_Missense_Mutation_p.E453D	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	453							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTCAGTAGAAGATTTTATTC	0.299000													31	99					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31226315	31226315	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr18:31226315G>A	ENST00000269197.5	+	4	353	c.353G>A	c.(352-354)gGa>gAa	p.G118E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAAGAAAATGGAGGTAAGTGT	0.388000													20	58					0	0	1	0	0
RABL6	55684	broad.mit.edu	37	9	139734199	139734199	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:139734199C>T	ENST00000371675.3	+	13	2352	c.1467C>T	c.(1465-1467)ggC>ggT	p.G489G	RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_Silent_p.G605G|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_Silent_p.G604G					RAB, member RAS oncogene family-like 6																		AGGATGAGGGCCCTGCCGAGC	0.657000													41	77					0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201869748	201869748	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:201869748C>T	ENST00000367288.4	-	2	639	c.393G>A	c.(391-393)aaG>aaA	p.K131K		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	131					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGAAGCTTTTCTTTAAACCAC	0.562000													78	160					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197172675	197172675	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:197172675C>T	ENST00000260983.2	-	11	2751	c.2569G>A	c.(2569-2571)Gag>Aag	p.E857K	HECW2_ENST00000409111.1_Missense_Mutation_p.E501K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	857	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TTCAGCTGCTCCATTTGCTGT	0.507000													23	93					0	0	1	0	0
NDUFAF3	25915	broad.mit.edu	37	3	49060174	49060174	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:49060174C>T	ENST00000326925.6	+	3	1444	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	NDUFAF3_ENST00000395458.2_Missense_Mutation_p.L47F|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.L47F|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.L47F	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	104					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CAGCTTTTCCCTCTTCTGGTT	0.587000													92	136					0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53586521	53586521	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:53586521G>A	ENST00000267082.5	-	13	2131	c.1900C>T	c.(1900-1902)Cta>Tta	p.L634L	ITGB7_ENST00000422257.3_Silent_p.L634L|ITGB7_ENST00000338737.4_Intron|ITGB7_ENST00000550743.2_Intron	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	634	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGTCGCATAGAGCACCATAG	0.602000													40	81					0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17280810	17280810	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:17280810C>T	ENST00000331428.5	-	3	542	c.440G>A	c.(439-441)aGg>aAg	p.R147K		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	147						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGCAATCTCCCTTTCCAGCAT	0.393000													63	174					0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169574279	169574279	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:169574279G>A	ENST00000316428.5	-	5	725	c.668C>T	c.(667-669)cCt>cTt	p.P223L	LRRC31_ENST00000523069.1_Missense_Mutation_p.P223L|LRRC31_ENST00000264676.5_Missense_Mutation_p.P167L|LRRC31_ENST00000397805.2_5'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	223								p.P223H(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TTGCAGCATAGGTAGCAGTTG	0.428000													31	69					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98742090	98742090	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr10:98742090C>T	ENST00000286067.2	+	1	1050	c.943C>T	c.(943-945)Cct>Tct	p.P315S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	315										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGCTCACCTTCCTGAAGAGGA	0.567000													46	61					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50451649	50451649	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr18:50451649C>T	ENST00000442544.2	+	5	1510	c.894C>T	c.(892-894)tcC>tcT	p.S298S	DCC_ENST00000412726.1_Silent_p.S146S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	298	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGCTTATCTCCAATGTGACAG	0.373000													47	125					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346451	70346451	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:70346451G>A	ENST00000305107.6	-	6	1534	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Silent_p.F360F|UGT2B4_ENST00000512583.1_3'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	496					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AGGCCAGCAGGAACCCAGTCA	0.468000													91	198					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70935679	70935679	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:70935679G>A	ENST00000357250.6	-	37	2695	c.2537C>T	c.(2536-2538)cCa>cTa	p.P846L	COL9A1_ENST00000370499.4_Missense_Mutation_p.P603L|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000320755.7_Missense_Mutation_p.P603L|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	846	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ACCTCTTCCTGGAGGGCCACG	0.438000													16	116					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154919033	154919033	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:154919033C>T	ENST00000368463.3	-	10	1188	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K	PBXIP1_ENST00000539880.1_Missense_Mutation_p.E200K|PBXIP1_ENST00000368465.1_Missense_Mutation_p.E344K|PBXIP1_ENST00000542459.1_Missense_Mutation_p.E218K	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	373					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGCTCCTGCTCCCTGGGGCCT	0.642000													37	142					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	340284	340284	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:340284C>T	ENST00000432829.2	+	14	1754	c.1438C>T	c.(1438-1440)Cca>Tca	p.P480S	DOCK8_ENST00000453981.1_Missense_Mutation_p.P548S|DOCK8_ENST00000469391.1_Missense_Mutation_p.P480S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	548	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTTGGAATTTCCAACACGAGA	0.498000													25	56					0	0	1	0	0
PSMB4	5692	broad.mit.edu	37	1	151372152	151372152	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:151372152C>T	ENST00000290541.6	+	1	143	c.89C>T	c.(88-90)tCc>tTc	p.S30F		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	30					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACTCCCGATTCCTTCATGGAT	0.607000													68	232					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43250912	43250912	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:43250912G>A	ENST00000259750.4	+	14	2517	c.2434G>A	c.(2434-2436)Gat>Aat	p.D812N		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	812						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GCTGGCAGACGATCAGAAGGA	0.667000													5	3					0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30898119	30898119	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr20:30898119C>T	ENST00000375712.3	+	2	706	c.539C>T	c.(538-540)tCt>tTt	p.S180F		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	180	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AAAGACCTGTCTTCCTTTGTC	0.493000													51	73					0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23424780	23424780	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:23424780C>T	ENST00000307149.5	-	10	1583	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	466					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TAATGGAGTTCTGAAAAGCCG	0.423000													24	134					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25299426	25299426	+	RNA	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr15:25299426C>T	ENST00000549804.2	+	0	98				SNORD116-2_ENST00000384274.1_RNA|SNHG14_ENST00000547292.1_RNA																							AAACTCATACCGTCATTCTCA	0.493000													83	223					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488044	24488044	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:24488044G>A	ENST00000264463.4	-	12	2602	c.2095C>T	c.(2095-2097)Cgg>Tgg	p.R699W	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	699					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGAGTCCTCCGAGGAATAAAT	0.502000										HNSCC(23;0.051)			17	63					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14868973	14868973	+	Translation_Start_Site	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:14868973C>T	ENST00000380881.4	-	3	818	c.3G>A	c.(1-3)atG>atA	p.M1I	FREM1_ENST00000422223.2_Start_Codon_SNP_p.M1I|FREM1_ENST00000380880.3_Start_Codon_SNP_p.M1I			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCAGAGAGTTCATGCTGACAG	0.602000													4	14					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10299769	10299769	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:10299769C>T	ENST00000403437.2	-	33	4625	c.4531G>A	c.(4531-4533)Gag>Aag	p.E1511K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1511					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCAGAAATCTCCTCTGTGGTT	0.438000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				10	36					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73790392	73790392	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:73790392A>C	ENST00000223398.6	+	10	1988	c.1661A>C	c.(1660-1662)aAg>aCg	p.K554T	CLIP2_ENST00000361545.5_Missense_Mutation_p.K519T|CLIP2_ENST00000395060.1_Missense_Mutation_p.K554T	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	554						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TCGGCCAGCAAGGAACACCAG	0.667000													16	36					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25477438	25477438	+	RNA	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr15:25477438C>T	ENST00000453082.2	+	0	1660					NR_003343.1																						CGCTGAAGCTCAAGCCTTTCC	0.617000													28	97					0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232393552	232393552	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:232393552G>A	ENST00000305141.4	-	2	313	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	60					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		AGATGGGCATGAACAGCTCTG	0.612000													10	79					0	0	1	0	0
MOCS2	4338	broad.mit.edu	37	5	52404428	52404428	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:52404428G>A	ENST00000361377.4	-	2	105	c.64C>T	c.(64-66)Cgt>Tgt	p.R22C	MOCS2_ENST00000508922.1_Missense_Mutation_p.R22C|MOCS2_ENST00000396954.3_5'UTR|MOCS2_ENST00000510818.2_Missense_Mutation_p.R22C|MOCS2_ENST00000450852.3_Missense_Mutation_p.R22C|MOCS2_ENST00000584946.1_Missense_Mutation_p.R22C|MOCS2_ENST00000582677.1_Missense_Mutation_p.R22C			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	22					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				GTCTCTGAACGAACTCCTGTT	0.363000													10	46					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102307351	102307351	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:102307351C>T	ENST00000369138.1	+	10	1997	c.1507C>T	c.(1507-1509)Cgt>Tgt	p.R503C	GRIK2_ENST00000413795.1_Missense_Mutation_p.R503C|GRIK2_ENST00000369134.4_Missense_Mutation_p.R454C|GRIK2_ENST00000421544.1_Missense_Mutation_p.R503C|GRIK2_ENST00000318991.6_Missense_Mutation_p.R503C|GRIK2_ENST00000369137.3_Missense_Mutation_p.R503C	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	503					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGGAATGGTTCGTGAACTAAT	0.358000													24	66					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107601010	107601010	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:107601010C>T	ENST00000393561.1	-	16	2450	c.2266G>A	c.(2266-2268)Gaa>Aaa	p.E756K	LAMB1_ENST00000393560.1_Missense_Mutation_p.E732K|LAMB1_ENST00000222399.6_Missense_Mutation_p.E732K			P07942	LAMB1_HUMAN	laminin, beta 1	732	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAAAGGTTTCCCAGGCACTG	0.463000													12	125					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75844494	75844494	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:75844494G>A	ENST00000322507.8	-	32	5781	c.5472C>T	c.(5470-5472)tcC>tcT	p.S1824S	COL12A1_ENST00000483888.2_Silent_p.S1824S|COL12A1_ENST00000416123.2_Silent_p.S1824S|COL12A1_ENST00000345356.6_Silent_p.S660S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1824	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GATACAGAGAGGATACGGTGA	0.463000													31	65					0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203620288	203620288	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:203620288C>T	ENST00000303116.6	+	5	998	c.256C>T	c.(256-258)Cct>Tct	p.P86S	FAM117B_ENST00000392238.2_Missense_Mutation_p.P330S	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	330	Gly-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TGCACTTATTCCTGTAATTCC	0.408000													33	180					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48596442	48596442	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:48596442G>A	ENST00000323776.5	+	6	1051	c.889G>A	c.(889-891)Gat>Aat	p.D297N	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.D260N	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	260					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AACCCGGCGTGATAGGAAAGT	0.627000													41	64					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	338149	338149	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:338149G>A	ENST00000262320.3	-	11	2933	c.2562C>T	c.(2560-2562)atC>atT	p.I854I	AXIN1_ENST00000354866.3_Silent_p.I818I	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	854	DIX.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CTTTGCCGATGATCTTCTCCT	0.602000													79	179					0	0	1	0	0
C19orf18	147685	broad.mit.edu	37	19	58477955	58477955	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:58477955G>A	ENST00000314391.3	-	4	415	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	105						integral to membrane		p.S105L(1)		large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		GGCTACGCTCGAAATTAAAAT	0.348000													14	43					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150416142	150416142	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:150416142G>C	ENST00000307194.5	+	2	147	c.7G>C	c.(7-9)Gga>Cga	p.G3R		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGCATGGGAGGAAGGAAGAT	0.413000													14	163					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2675610	2675610	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:2675610C>T	ENST00000399655.1	+	12	1796	c.1531C>T	c.(1531-1533)Cgg>Tgg	p.R511W	CACNA1C_ENST00000399644.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R511W|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R511W|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R536W|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R511W|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R511W|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R511W|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R511W|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R511W	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	511					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCGGTGGAATCGGTTCTGCAG	0.562000													7	10					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76872039	76872039	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:76872039C>T	ENST00000409709.3	+	12	1493	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	MYO7A_ENST00000409619.2_Silent_p.F396F|MYO7A_ENST00000409893.1_Silent_p.F407F|MYO7A_ENST00000458637.2_Silent_p.F407F	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	407	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGCGGCTGTTCGTGTGGATTG	0.602000													6	11					0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5951200	5951200	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr10:5951200C>T	ENST00000379999.5	+	6	1220	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Silent_p.L321L|FBXO18_ENST00000379994.1_Silent_p.L58L	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	321					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						ACCCCCTCCTCCCCGAGGCTG	0.612000													42	55					0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56342325	56342325	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:56342325G>A	ENST00000262290.4	+	10	1825	c.1509G>A	c.(1507-1509)atG>atA	p.M503I	LPO_ENST00000421678.2_Missense_Mutation_p.M420I|LPO_ENST00000543544.1_Missense_Mutation_p.M444I|LPO_ENST00000582328.1_Missense_Mutation_p.M420I	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	503					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CTTGGAGGATGGTCAAAGATG	0.532000													13	61					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2027417	2027417	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:2027417C>T	ENST00000382722.5	-	1	585	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.E75K|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E75K|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E75K|RP5-1096D14.3_ENST00000544163.1_RNA	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	75						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GCTTACGTTTCCAGAGGAATC	0.632000													5	21					0	0	1	0	0
SPR	6697	broad.mit.edu	37	2	73118518	73118518	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:73118518C>A	ENST00000234454.5	+	3	711	c.638C>A	c.(637-639)tCc>tAc	p.S213Y	SPR_ENST00000498749.1_3'UTR	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	213					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			lung(4)|ovary(2)	6						CGGGAGACCTCCGTGGACCCA	0.562000													24	93					3.65163e-15	3.71027e-15	1	1	0
SUCLG2	8801	broad.mit.edu	37	3	67568738	67568738	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:67568738C>T	ENST00000307227.5	-	6	620	c.593G>A	c.(592-594)gGa>gAa	p.G198E	SUCLG2_ENST00000492795.1_Missense_Mutation_p.G198E|SUCLG2_ENST00000493112.1_Missense_Mutation_p.G198E	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	198	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	GTCCTTTATTCCTTCAAAAAT	0.393000													11	124					0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169131	50169131	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:50169131C>T	ENST00000246785.3	+	1	309	c.51C>T	c.(49-51)ttC>ttT	p.F17F	BCL2L12_ENST00000246784.3_Silent_p.F17F|IRF3_ENST00000377139.3_5'UTR|BCL2L12_ENST00000441864.2_Silent_p.F17F	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	17					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		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;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TTTTGGGTTTCCGGCCAGAGG	0.572000													19	68					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140257298	140257298	+	Silent	SNP	T	T	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:140257298T>C	ENST00000398631.2	+	1	2241	c.2241T>C	c.(2239-2241)agT>agC	p.S747S	PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTGGGGAGTTGGTCTTACT	0.677000													10	49					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177249650	177249650	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:177249650C>T	ENST00000361539.4	+	8	1650	c.1338C>T	c.(1336-1338)ccC>ccT	p.P446P	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		446						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GCACCTGCCCCTATGACCAAT	0.602000													9	78					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121943798	121943798	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:121943798C>T	ENST00000442488.2	-	1	761	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	FEZF1_ENST00000427185.2_Missense_Mutation_p.E182K|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.E232K	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	232					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TGGGCGCTTTCTTTCATGTAA	0.507000													101	161					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33998878	33998878	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:33998878G>A	ENST00000262325.7	+	15	2648	c.2095G>A	c.(2095-2097)Ggg>Agg	p.G699R	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.G713R|AP2B1_ENST00000312678.8_Missense_Mutation_p.G713R|AP2B1_ENST00000589344.1_Missense_Mutation_p.G713R|AP2B1_ENST00000592545.1_Missense_Mutation_p.G675R|AP2B1_ENST00000538556.1_Missense_Mutation_p.G642R	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	699	Pro-rich (stalk region).				axon guidance|epidermal growth factor receptor signaling pathway|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|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACTCTCCACAGGGATAGGCAT	0.478000													63	119					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72889418	72889418	+	Silent	SNP	A	A	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:72889418A>T	ENST00000264839.7	+	5	612	c.612A>T	c.(610-612)gtA>gtT	p.V204V	RIMS1_ENST00000348717.5_Silent_p.V204V|RIMS1_ENST00000521978.1_Silent_p.V204V|RIMS1_ENST00000520567.1_Silent_p.V204V|RIMS1_ENST00000518273.1_Silent_p.V204V|RIMS1_ENST00000517960.1_Silent_p.V204V|RIMS1_ENST00000522291.1_Silent_p.V204V|RIMS1_ENST00000491071.2_Silent_p.V204V			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	204					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCTCTGAGGTACCAAGAGAAA	0.557000													38	99					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	187003629	187003629	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:187003629T>A	ENST00000337774.5	-	2	610	c.221A>T	c.(220-222)gAa>gTa	p.E74V	MASP1_ENST00000169293.6_Missense_Mutation_p.E74V|MASP1_ENST00000392472.2_Intron|MASP1_ENST00000296280.6_Missense_Mutation_p.E74V|MASP1_ENST00000392470.2_Missense_Mutation_p.E48V|MASP1_ENST00000495249.1_Intron	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	74	CUB 1.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ATAGTCATATTCACAAAGGTA	0.463000													16	114					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335930	42335930	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:42335930C>T	ENST00000262418.6	-	10	1093	c.938G>A	c.(937-939)gGc>gAc	p.G313D	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	313					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTCCAGGAAGCCCTCTAGGGA	0.647000													27	54					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122001021	122001021	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:122001021G>A	ENST00000498619.1	+	6	2138	c.1700G>A	c.(1699-1701)gGg>gAg	p.G567E	CASR_ENST00000490131.1_Missense_Mutation_p.G557E|CASR_ENST00000296154.5_Missense_Mutation_p.G557E	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	557					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ATCATTGAGGGGGAGCCCACC	0.577000													69	187					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136901482	136901482	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:136901482G>A	ENST00000359015.4	-	25	3834	c.3474C>T	c.(3472-3474)atC>atT	p.I1158I	MAP3K5_ENST00000355845.4_Silent_p.I405I|MAP3K5_ENST00000463140.1_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1158					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CCTTCCGAATGATACTGTCTA	0.393000													18	54					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195488399	195488399	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:195488399G>A	ENST00000463781.3	-	15	15029	c.14570C>T	c.(14569-14571)cCc>cTc	p.P4857L	MUC4_ENST00000475231.1_Missense_Mutation_p.P4805L|MUC4_ENST00000346145.4_Missense_Mutation_p.P621L|MUC4_ENST00000349607.4_Missense_Mutation_p.P570L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1614					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTCCCTGGGGGAATGGTGGA	0.607000													60	149					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120301771	120301771	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:120301771G>A	ENST00000369406.3	-	4	869	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	HMGCS2_ENST00000476640.1_Intron|HMGCS2_ENST00000544913.2_Missense_Mutation_p.R232C	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	274					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		ATTTTTTTACGGTATGATGTG	0.468000													54	144					0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49578814	49578814	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:49578814G>A	ENST00000371175.4	-	7	1016	c.990C>T	c.(988-990)gtC>gtT	p.V330V	RHAG_ENST00000229810.7_Intron	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	330					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					GGAGGTTATGGACCCCACATG	0.418000													25	142					0	0	1	0	0
TCEA2	6919	broad.mit.edu	37	20	62701677	62701677	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr20:62701677C>T	ENST00000361317.2	+	8	943	c.501C>T	c.(499-501)tcC>tcT	p.S167S	TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Silent_p.S194S	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	194	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GTCGTATCTCCAACCTGAAGG	0.542000													37	148					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215809747	215809747	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:215809747A>G	ENST00000272895.7	-	49	7540	c.7321T>C	c.(7321-7323)Tcc>Ccc	p.S2441P	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.S2123P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2441	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGGATGACGGAACATTTGTTC	0.433000													11	25					0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52071085	52071085	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr10:52071085C>T	ENST00000361781.2	-	9	1791	c.832G>A	c.(832-834)Ggg>Agg	p.G278R	SGMS1_ENST00000429490.1_Missense_Mutation_p.G109R	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	284					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						AGATAGTCCCCACACATGTTG	0.453000													29	45					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13824400	13824400	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:13824400G>A	ENST00000265104.4	-	39	6591	c.6487C>T	c.(6487-6489)Cgg>Tgg	p.R2163W		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2163	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCAAGGTCCGAAGAACTGAC	0.423000									Kartagener syndrome				13	56					0	0	1	0	0
FAM73A	374986	broad.mit.edu	37	1	78325006	78325006	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:78325006A>T	ENST00000370791.3	+	10	1155	c.1123A>T	c.(1123-1125)Atg>Ttg	p.M375L	FAM73A_ENST00000443751.2_Missense_Mutation_p.M337L	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	375						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TAGAACTGAAATGTTGGAGTG	0.378000													33	101					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156618049	156618049	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:156618049G>A	ENST00000296518.7	+	3	239	c.30G>A	c.(28-30)aaG>aaA	p.K10K	GUCY1A3_ENST00000513574.1_Silent_p.K10K|GUCY1A3_ENST00000515602.1_Intron|GUCY1A3_ENST00000511108.1_Silent_p.K10K|GUCY1A3_ENST00000511507.1_Silent_p.K10K|GUCY1A3_ENST00000393832.3_Intron|GUCY1A3_ENST00000455639.2_Silent_p.K10K|GUCY1A3_ENST00000506455.1_Silent_p.K10K			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	10					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AGGATCTCAAGATCACAGGAG	0.502000													35	46					0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7867947	7867947	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:7867947G>A	ENST00000345088.2	+	2	368	c.251G>A	c.(250-252)gGa>gAa	p.G84E		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	84						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		AGCAGGAGAGGAGTAAGAACA	0.493000													18	50					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13719166	13719166	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:13719166G>A	ENST00000265104.4	-	72	12428	c.12324C>T	c.(12322-12324)ttC>ttT	p.F4108F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4108	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTCATCCATGAAATCAAGTC	0.443000									Kartagener syndrome				18	52					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44832101	44832101	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:44832101G>A	ENST00000354340.4	-	4	2260	c.2209C>T	c.(2209-2211)Cac>Tac	p.H737Y	ZNF112_ENST00000337401.4_Missense_Mutation_p.H743Y|ZNF112_ENST00000536500.1_Missense_Mutation_p.H760Y	NM_013380.3	NP_037512.3			zinc finger protein 112																		ACTCTAGTGTGGACTCTCTGA	0.473000													61	245					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105658	168105658	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:168105658G>A	ENST00000409195.1	+	9	7845	c.7756G>A	c.(7756-7758)Gaa>Aaa	p.E2586K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2586K|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2364K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2411					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGTGGAAAAGGAAATGCCATT	0.383000													57	78					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54876311	54876311	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:54876311A>T	ENST00000333896.5	+	24	5532	c.5147A>T	c.(5146-5148)gAc>gTc	p.D1716V	SPTBN1_ENST00000356805.4_Missense_Mutation_p.D1729V	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1729	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)			CTGGGACAGGACTATGAGCAT	0.552000													29	51					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204985639	204985639	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:204985639C>T	ENST00000367172.4	+	32	4344	c.4016C>T	c.(4015-4017)cCt>cTt	p.P1339L	NFASC_ENST00000404907.1_Missense_Mutation_p.P1166L|NFASC_ENST00000360049.4_Missense_Mutation_p.P1161L|NFASC_ENST00000367171.4_Missense_Mutation_p.P1324L|NFASC_ENST00000401399.1_Missense_Mutation_p.P1232L|NFASC_ENST00000513543.1_Missense_Mutation_p.P1161L|NFASC_ENST00000338515.6_Missense_Mutation_p.P1249L|NFASC_ENST00000539706.1_Missense_Mutation_p.P1166L|NFASC_ENST00000339876.6_Missense_Mutation_p.P1232L|NFASC_ENST00000338586.6_Missense_Mutation_p.P1216L|NFASC_ENST00000367169.4_Missense_Mutation_p.P1063L|NFASC_ENST00000404076.1_Missense_Mutation_p.P1149L|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367170.4_Missense_Mutation_p.P1260L			O94856	NFASC_HUMAN	neurofascin	1339					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCACGTCACCTGTCAATGCT	0.557000													25	77					0	0	1	0	0
TRBV29-1	28558	broad.mit.edu	37	7	142448143	142448143	+	RNA	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:142448143C>T	ENST00000422143.2	+	0	91																											TGCTCCTTCTCCTGGGACTAG	0.473000													5	16					0	0	1	0	0
GEMIN6	79833	broad.mit.edu	37	2	39008901	39008901	+	Missense_Mutation	SNP	C	C	T	rs141104490		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:39008901C>T	ENST00000281950.2	+	3	487	c.371C>T	c.(370-372)cCa>cTa	p.P124L	GEMIN6_ENST00000409011.1_3'UTR|GEMIN6_ENST00000409566.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6	124					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding			kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				GGAGACGCTCCAAGGACTCTC	0.488000													19	103					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20657727	20657727	+	RNA	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr15:20657727G>A	ENST00000428453.1	-	0	2231																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GCATCACCAGGAGGAAGTGGG	0.612000													10	78					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919980	12919980	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:12919980C>T	ENST00000240189.2	+	3	807	c.720C>T	c.(718-720)tcC>tcT	p.S240S		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	240										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCGTTTTCTCCAGGTGCCATC	0.453000													53	212					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183520	197183520	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:197183520C>T	ENST00000260983.2	-	9	2276	c.2094G>A	c.(2092-2094)caG>caA	p.Q698Q	HECW2_ENST00000409111.1_Silent_p.Q342Q	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	698					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ACACGGATTCCTGCGACCCTT	0.617000													15	66					0	0	1	0	0
TRBV20-1	28567	broad.mit.edu	37	7	142334729	142334729	+	RNA	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:142334729C>T	ENST00000390394.3	+	0	229																											GTTTTGGTATCGTCAGTTCCC	0.502000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	131					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091606	9091606	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:9091606G>A	ENST00000397910.4	-	1	412	c.209C>T	c.(208-210)tCg>tTg	p.S70L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	70	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCCACAACCGAAGATGTAGG	0.522000													19	86					0	0	1	0	0
HUS1B	135458	broad.mit.edu	37	6	656720	656720	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:656720G>A	ENST00000380907.2	-	1	243	c.225C>T	c.(223-225)ctC>ctT	p.L75L	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	75										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GGATCTCATCGAGATCTTCCG	0.697000													5	30					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417986	150417986	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:150417986G>A	ENST00000307194.5	+	3	1034	c.894G>A	c.(892-894)gaG>gaA	p.E298E		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGGTCGGAGGCCGTTGCGG	0.627000													29	25					0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33447399	33447399	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr20:33447399G>A	ENST00000336431.5	-	7	905	c.861C>T	c.(859-861)cgC>cgT	p.R287R		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	287					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TCTCCCGGAAGCGCTCGGACA	0.692000													6	33					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912922	94912922	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:94912922G>A	ENST00000334708.3	-	3	727	c.663C>T	c.(661-663)ttC>ttT	p.F221F	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	221					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GGTAGCGACTGAAAGGGTGCT	0.478000													71	93					0	0	1	0	0
NARS	4677	broad.mit.edu	37	18	55288939	55288939	+	Splice_Site	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr18:55288939C>T	ENST00000256854.5	-	1	466		c.e1+1		NARS_ENST00000423481.2_Splice_Site	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase						asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	GTCTCACCCACCTAGCACCAT	0.617000													21	79					0	0	1	0	0
CELA2B	51032	broad.mit.edu	37	1	15813918	15813918	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:15813918G>A	ENST00000375910.3	+	7	803	c.778G>A	c.(778-780)Gac>Aac	p.D260N		NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	260	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CAACTACAACGACTGGATCAA	0.612000													58	165					0	0	1	0	0
TMEM178A	130733	broad.mit.edu	37	2	39944346	39944346	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:39944346G>A	ENST00000281961.2	+	4	905	c.849G>A	c.(847-849)cgG>cgA	p.R283R	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2			transmembrane protein 178A																		TTATTAGCCGGACCAAGATTG	0.547000													25	103					0	0	1	0	0
SCD5	79966	broad.mit.edu	37	4	83557880	83557880	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:83557880C>T	ENST00000319540.4	-	4	985	c.666G>A	c.(664-666)ttG>ttA	p.L222L		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	222					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GAATAGAGGCCAAGAAGTAGG	0.537000													39	71					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12620673	12620673	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:12620673C>T	ENST00000425538.1	+	4	388	c.188C>T	c.(187-189)tCc>tTc	p.S63F	MYOCD_ENST00000343344.4_Missense_Mutation_p.S63F|RP11-746E8.1_ENST00000578952.1_lincRNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	63					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCTAAAAATTCCCTGAAGCGC	0.378000													7	35					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815899	23815899	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:23815899C>T	ENST00000264867.2	-	8	1326	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	403					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TCTTGGAGCTCCTGTGATATA	0.443000													43	83					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44685136	44685136	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr20:44685136G>A	ENST00000454036.1	+	23	3188	c.3112G>A	c.(3112-3114)Gca>Aca	p.A1038T	SLC12A5_ENST00000243964.3_Missense_Mutation_p.A1015T	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1038					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAAGTCGGTGGCAGAGAAGAA	0.637000													18	87					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452278	179452278	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:179452278C>T	ENST00000589042.1	-	306	63982	c.63758G>A	c.(63757-63759)gGa>gAa	p.G21253E	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G18685E|TTN_ENST00000342175.6_Missense_Mutation_p.G12380E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G12188E|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G12313E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G19612E|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19612	Fibronectin type-III 54.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCTTTTCTCCTGCTGGGTT	0.423000													7	25					0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13216316	13216316	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:13216316G>A	ENST00000592062.1	-	16	2258	c.1688C>T	c.(1687-1689)cCt>cTt	p.P563L	TRMT1_ENST00000437766.1_Missense_Mutation_p.P563L|TRMT1_ENST00000357720.4_Missense_Mutation_p.P563L|TRMT1_ENST00000221504.8_Missense_Mutation_p.P534L			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	563							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CCGGGCACGAGGCCGGGGACC	0.662000													41	156					0	0	1	0	0
CCDC69	26112	broad.mit.edu	37	5	150578631	150578631	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:150578631C>T	ENST00000355417.2	-	4	420	c.246G>A	c.(244-246)agG>agA	p.R82R	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	82										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTCTAGCTCCCTTTCCTTCT	0.562000													32	130					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27089606	27089606	+	Silent	SNP	T	T	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:27089606T>G	ENST00000324856.7	+	8	2933	c.2562T>G	c.(2560-2562)ccT>ccG	p.P854P	ARID1A_ENST00000457599.2_Silent_p.P854P|ARID1A_ENST00000374152.2_Silent_p.P471P	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	854					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)		GCACACTCCCTCCAGGGAGGA	0.602000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								20	142					0	0	1	0	0
MKRN1	23608	broad.mit.edu	37	7	140156591	140156591	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:140156591T>C	ENST00000255977.2	-	5	1071	c.847A>G	c.(847-849)Atc>Gtc	p.I283V	MKRN1_ENST00000437223.2_Missense_Mutation_p.I17V|MKRN1_ENST00000480552.1_Silent_p.G66G|MKRN1_ENST00000443720.2_Missense_Mutation_p.I283V|MKRN1_ENST00000474576.1_Missense_Mutation_p.I219V	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	283							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					TCCATGCAGATCCCACACACC	0.547000													7	100					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179439478	179439478	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:179439478C>T	ENST00000589042.1	-	326	71605	c.71381G>A	c.(71380-71382)gGa>gAa	p.G23794E	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G21226E|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G14921E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14729E|TTN_ENST00000359218.5_Missense_Mutation_p.G14854E|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G22153E|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22153	Fibronectin type-III 73.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACTCTAATCCAGTAGTAAG	0.443000													42	94					0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183368980	183368980	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:183368980C>T	ENST00000454652.1	+	4	1222	c.836C>T	c.(835-837)cCt>cTt	p.P279L	KLHL24_ENST00000476808.1_Missense_Mutation_p.P279L|KLHL24_ENST00000242810.6_Missense_Mutation_p.P279L			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	279						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CAGAATTCTCCTGAGTGTTAT	0.463000													8	55					0	0	1	0	0
KDM7A	80853	broad.mit.edu	37	7	139796475	139796475	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:139796475T>C	ENST00000397560.2	-	17	2351	c.2254A>G	c.(2254-2256)Agg>Ggg	p.R752G	JHDM1D_ENST00000006967.5_Missense_Mutation_p.R752G	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		752					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TGTATTTGCCTTTGTAAACAC	0.488000													95	90					0	0	1	0	0
VAMP7	6845	broad.mit.edu	37	X	155171561	155171561	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chrX:155171561C>T	ENST00000262640.6	+	7	624	c.541C>T	c.(541-543)Cat>Tat	p.H181Y	VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000286448.6_Silent_p.I203I|VAMP7_ENST00000460621.1_Silent_p.I162I	NM_001185183.1	NP_001172112.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	0	v-SNARE coiled-coil homology.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	p.H181Y(1)|p.I203I(1)		large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCATCTATATCATTGTTTCAC	0.348000													31	83					0	0	1	0	0
REEP2	51308	broad.mit.edu	37	5	137781055	137781055	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:137781055G>A	ENST00000378339.2	+	6	748	c.556G>A	c.(556-558)Gag>Aag	p.E186K	REEP2_ENST00000254901.5_Missense_Mutation_p.E184K|REEP2_ENST00000506158.1_Missense_Mutation_p.E146K	NM_001271803.1	NP_001258732.1	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	184						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGACACCATCGAGGACTTAGG	0.667000													12	53					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5155026	5155026	+	Silent	SNP	G	G	A	rs147455567		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:5155026G>A	ENST00000252321.3	+	1	1942	c.1713G>A	c.(1711-1713)gaG>gaA	p.E571E		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	571						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GGACCCTGGAGAATGCAGACA	0.642000													19	31					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123014946	123014946	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:123014946G>A	ENST00000462833.1	-	17	4260	c.3048C>T	c.(3046-3048)ttC>ttT	p.F1016F	ADCY5_ENST00000491190.1_Silent_p.F674F|ADCY5_ENST00000309879.5_Silent_p.F666F	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1016					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GTTTCCAGAGGAAGTCGAGGC	0.642000													11	100					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321157	56321157	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:56321157G>A	ENST00000443188.1	-	5	1529	c.819C>T	c.(817-819)ttC>ttT	p.F273F	NLRP11_ENST00000589824.2_Silent_p.F273F|NLRP11_ENST00000592953.1_Silent_p.F174F|NLRP11_ENST00000360133.3_Silent_p.F273F|NLRP11_ENST00000589093.1_Silent_p.F273F	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	273	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGGAGATGAGGAACCAGCAGC	0.478000													48	75					0	0	1	0	0
TST	7263	broad.mit.edu	37	22	37414441	37414441	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:37414441C>T	ENST00000403892.3	-	1	1067	c.333G>A	c.(331-333)cgG>cgA	p.R111R	TST_ENST00000249042.3_Silent_p.R111R	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	111	Rhodanese 1.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						TCCACCAGACCCGGGGAGCAT	0.617000													36	63					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129903501	129903501	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr10:129903501G>A	ENST00000368654.3	-	13	6978	c.6603C>T	c.(6601-6603)ttC>ttT	p.F2201F	MKI67_ENST00000368653.3_Silent_p.F1841F	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2201	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGGTGTCTGGAAGAGCTCTT	0.507000													112	180					0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145584375	145584375	+	Splice_Site	SNP	T	T	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:145584375T>G	ENST00000532887.1	+	4	1708		c.e4+2		SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Splice_Site|SLC52A2_ENST00000527078.1_Splice_Site|SLC52A2_ENST00000329994.2_Splice_Site|SLC52A2_ENST00000402965.1_Splice_Site|SLC52A2_ENST00000540505.1_Splice_Site			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2							integral to plasma membrane	receptor activity|riboflavin transporter activity										GTCCTCGTGGTGAGCACAGGG	0.692000													23	129					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75699774	75699774	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:75699774C>T	ENST00000370855.5	-	12	863	c.750G>A	c.(748-750)acG>acA	p.T250T	SLC44A5_ENST00000535611.1_Silent_p.T120T|SLC44A5_ENST00000370859.3_Silent_p.T250T	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	250						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCATGGCAATCGTCAGGCCAC	0.378000													48	80					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228153880	228153880	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:228153880C>T	ENST00000396578.3	+	35	3058	c.2896C>T	c.(2896-2898)Cca>Tca	p.P966S	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	966	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CGCAGGAAATCCAGGTGAGAA	0.522000													19	27					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52476303	52476303	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:52476303G>A	ENST00000231721.2	-	4	356	c.357C>T	c.(355-357)ttC>ttT	p.F119F		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	119	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GCACCCGCACGAAGTTGGCGC	0.667000													19	42					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63477162	63477162	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr18:63477162G>A	ENST00000536984.2	+	3	1127	c.433G>A	c.(433-435)Gat>Aat	p.D145N	CDH7_ENST00000323011.3_Missense_Mutation_p.D145N|CDH7_ENST00000397968.2_Missense_Mutation_p.D145N			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	145	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAAAATTCAGGATATCAACGA	0.507000													58	148					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158065067	158065067	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:158065067C>T	ENST00000264428.4	+	8	1130	c.860C>T	c.(859-861)tCc>tTc	p.S287F	GLRB_ENST00000541722.1_Missense_Mutation_p.S287F|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.S287F	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	287					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TCCTGGCTTTCCTTCTGGATC	0.507000													49	51					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10886401	10886401	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:10886401C>A	ENST00000314646.5	+	4	572	c.408C>A	c.(406-408)gaC>gaA	p.D136E	DNM2_ENST00000585892.1_Missense_Mutation_p.D136E|DNM2_ENST00000408974.4_Missense_Mutation_p.D136E|DNM2_ENST00000389253.4_Missense_Mutation_p.D136E|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000355667.6_Missense_Mutation_p.D136E|DNM2_ENST00000359692.6_Missense_Mutation_p.D136E			P50570	DYN2_HUMAN	dynamin 2	136					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCCTCATCGACCTCCCGGGTA	0.592000			"""F, N, Splice, Mis, O"""		ETP ALL								8	411					5.18039e-06	5.20783e-06	1	1	0
ABCC12	94160	broad.mit.edu	37	16	48119612	48119612	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:48119612C>T	ENST00000311303.3	-	27	4065	c.3720G>A	c.(3718-3720)atG>atA	p.M1240I	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000532355.1_5'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1240	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTGGGAGTTTCATTATCTACA	0.418000													39	108					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203015082	203015082	+	Translation_Start_Site	SNP	T	T	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:203015082T>G	ENST00000295706.4	+	0	1413				PPFIA4_ENST00000367240.2_Missense_Mutation_p.N324K|PPFIA4_ENST00000414050.2_Missense_Mutation_p.N31K|PPFIA4_ENST00000447715.2_Missense_Mutation_p.N324K			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4						cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						AGCTGGAGAATGAGCTGGCCA	0.572000													51	211					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643019	1643019	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:1643019C>T	ENST00000399682.1	-	1	349	c.305G>A	c.(304-306)gGc>gAc	p.G102D		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	102	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAGGAGCCACAGCCCCC	0.682000													36	220					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	19015541	19015541	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:19015541G>A	ENST00000406451.3	+	25	3276	c.3126G>A	c.(3124-3126)gtG>gtA	p.V1042V	HDAC9_ENST00000441542.2_Silent_p.V1045V|HDAC9_ENST00000401921.1_Silent_p.V1001V	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	0					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCCTAACAGTGGATGTGGAAC	0.537000													15	35					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81161541	81161541	+	RNA	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:81161541G>A	ENST00000525539.1	-	0	6173				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGCATCCAGGGAATATGGTG	0.562000													5	41					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47921588	47921588	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:47921588C>T	ENST00000289672.2	-	20	3411	c.3361G>A	c.(3361-3363)Ggc>Agc	p.G1121S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1121	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCGGCTCTGCCTGCAGACAGG	0.567000													22	105					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29044289	29044289	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr18:29044289C>T	ENST00000257189.4	+	9	1298	c.1215C>T	c.(1213-1215)atC>atT	p.I405I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	405	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGGATTATATCCTGGGAACAT	0.353000													32	94					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119592060	119592060	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:119592060C>T	ENST00000267260.4	+	12	1792	c.1404C>T	c.(1402-1404)ccC>ccT	p.P468P		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	468	Arg-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AGCGGGATCCCAAATACAGTG	0.647000													8	17					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099670	133099670	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:133099670C>T	ENST00000515826.1	+	3	1238	c.1115C>T	c.(1114-1116)tCc>tTc	p.S372F	TMEM108_ENST00000393130.3_Missense_Mutation_p.S372F|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Missense_Mutation_p.S372F			Q6UXF1	TM108_HUMAN	transmembrane protein 108	372						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCAGCCCCTTCCCAGGGGATT	0.612000													47	94					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44805121	44805121	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:44805121C>T	ENST00000309315.4	+	16	2308	c.2185C>T	c.(2185-2187)Ccc>Tcc	p.P729S	ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P671S|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P697S|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P703S|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P729S	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	729	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CGGCGCTGCCCCCTTTGCCCC	0.697000													8	30					0	0	1	0	0
DOK7	285489	broad.mit.edu	37	4	3494982	3494982	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:3494982G>A	ENST00000340083.5	+	7	1334	c.1269G>A	c.(1267-1269)caG>caA	p.Q423Q	DOK7_ENST00000389653.2_Silent_p.Q423Q|DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000512714.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	423					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCCCTCACAGGGCAGCCCCG	0.706000													15	29					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233756081	233756081	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:233756081T>C	ENST00000264051.3	-	8	1537	c.1259A>G	c.(1258-1260)aAg>aGg	p.K420R	NGEF_ENST00000373552.4_Missense_Mutation_p.K328R|NGEF_ENST00000539537.1_Missense_Mutation_p.K143R	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	420	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GACCAACAGCTTGAGGCGTGT	0.617000													43	80					0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30888078	30888078	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:30888078C>T	ENST00000392772.2	-	9	844	c.567G>A	c.(565-567)ggG>ggA	p.G189G	SEC14L4_ENST00000381982.3_Silent_p.G243G|SEC14L4_ENST00000255858.7_Silent_p.G243G|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000540456.1_Silent_p.G228G			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	243	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CAGTCATGGTCCCCCCAAACT	0.587000													15	51					0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38182899	38182899	+	Splice_Site	SNP	C	C	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:38182899C>A	ENST00000394126.1	-	17	2303		c.e17+1		MED24_ENST00000356271.3_Splice_Site|MED24_ENST00000394127.2_Splice_Site|MED24_ENST00000501516.3_Splice_Site|MED24_ENST00000394128.2_Splice_Site			O75448	MED24_HUMAN	mediator complex subunit 24						androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GGCGGGGCTACCTGGATGGAC	0.547000											OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	13					1.06961e-07	1.07756e-07	1	1	0
TRIM55	84675	broad.mit.edu	37	8	67039554	67039554	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:67039554G>A	ENST00000315962.4	+	1	424	c.51G>A	c.(49-51)atG>atA	p.M17I	TRIM55_ENST00000353317.5_Missense_Mutation_p.M17I|TRIM55_ENST00000276573.7_Missense_Mutation_p.M17I|TRIM55_ENST00000350034.4_Missense_Mutation_p.M17I	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	17						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AGCAGACCATGGATAACTTAG	0.493000													37	60					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55961825	55961825	+	Silent	SNP	G	G	A	rs41452948		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:55961825G>A	ENST00000263923.4	-	20	3031	c.2736C>T	c.(2734-2736)ctC>ctT	p.L912L		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	912	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CAATCACCATGAGTGGCCCTG	0.428000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			30	74					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18622332	18622332	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:18622332G>A	ENST00000380548.4	+	5	905	c.566G>A	c.(565-567)cGa>cAa	p.R189Q	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.R189Q|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.R189Q|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.R189Q|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R189Q	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	189						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGGCTGGTCCGAGGGCAGTAT	0.537000													43	38					0	0	1	0	0
OR7G3	390883	broad.mit.edu	37	19	9237580	9237580	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:9237580C>T	ENST00000305444.2	-	1	46	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CCCTGACAATCCCAAGAGAAA	0.473000													14	59					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20636294	20636294	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:20636294C>T	ENST00000525748.1	+	6	1328	c.1055C>T	c.(1054-1056)cCc>cTc	p.P352L		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	352					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ACCGCTTATCCCAACGTGACA	0.398000													60	81					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52271931	52271931	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:52271931C>T	ENST00000598776.1	+	2	792	c.20C>T	c.(19-21)aCt>aTt	p.T7I	FPR2_ENST00000340023.6_Missense_Mutation_p.T7I|FPR2_ENST00000598953.1_Missense_Mutation_p.T7I	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	7					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						AACTTCTCCACTCCTCTGAAT	0.483000													22	64					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21712081	21712081	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:21712081C>T	ENST00000261195.2	-	10	1506	c.1252G>A	c.(1252-1254)Gat>Aat	p.D418N		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	418					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTAAAATATCGTTCAGGTCA	0.328000													12	44					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644564	20644564	+	RNA	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr15:20644564C>T	ENST00000428453.1	-	0	3187																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GGAAGGGAGACGGCCACCCAC	0.622000													3	12					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34209185	34209185	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:34209185G>A	ENST00000373381.4	-	14	2045	c.1869C>T	c.(1867-1869)acC>acT	p.T623T		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	583	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGACGGGCTGGTGAAGTTGA	0.587000													10	81					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160471585	160471585	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:160471585C>T	ENST00000356956.1	+	19	2743	c.2595C>T	c.(2593-2595)ctC>ctT	p.L865L		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	865					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GCGGCAGCCTCCTTCTGGAAT	0.572000													23	77					0	0	1	0	0
KLK11	11012	broad.mit.edu	37	19	51527526	51527526	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:51527526C>T	ENST00000594768.1	-	4	519	c.334G>A	c.(334-336)Gag>Aag	p.E112K	KLK11_ENST00000453757.3_Missense_Mutation_p.E80K|KLK11_ENST00000319720.7_Missense_Mutation_p.E80K|KLK11_ENST00000391804.3_Missense_Mutation_p.E105K|KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000600362.1_Intron	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	112	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CAGCCCTCCTCCTTCTGGAGG	0.597000													55	96					0	0	1	0	0
PIANP	196500	broad.mit.edu	37	12	6806468	6806468	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:6806468C>T	ENST00000534837.1	-	3	737	c.508G>A	c.(508-510)Ggg>Agg	p.G170R	PIANP_ENST00000540656.1_Missense_Mutation_p.G170R|PIANP_ENST00000320591.5_Missense_Mutation_p.G170R	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein																		CCACGGCCCCCGAACAGGAAT	0.607000													7	49					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43277345	43277345	+	Silent	SNP	G	G	A	rs112850683		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr21:43277345G>A	ENST00000422911.1	-	4	437	c.336C>T	c.(334-336)ttC>ttT	p.F112F	PRDM15_ENST00000447207.2_Silent_p.F75F|PRDM15_ENST00000538201.1_Silent_p.F75F|PRDM15_ENST00000269844.3_Silent_p.F441F|PRDM15_ENST00000398548.1_Silent_p.F112F			P57071	PRD15_HUMAN	PR domain containing 15	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F441F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CAAAGGGACCGAACTGTGTCC	0.552000													31	103					0	0	1	0	0
FZD8	8325	broad.mit.edu	37	10	35928840	35928840	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr10:35928840G>A	ENST00000374694.1	-	1	1522	c.1518C>T	c.(1516-1518)tcC>tcT	p.S506S		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	506					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TGCGGAAGAGGGACACGAAGC	0.627000													16	33					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53304755	53304755	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:53304755C>T	ENST00000438150.2	-	2	1077	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	ZNF28_ENST00000414252.2_Missense_Mutation_p.E62K|ZNF28_ENST00000360272.4_Missense_Mutation_p.E62K|ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000457749.2_Missense_Mutation_p.E115K|ZNF28_ENST00000339844.6_3'UTR			P17035	ZNF28_HUMAN	zinc finger protein 28	115	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TCTTTGATTTCTGTCATGGGT	0.398000													78	364					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653023	159653023	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:159653023G>A	ENST00000297267.9	+	11	1679	c.1479G>A	c.(1477-1479)gtG>gtA	p.V493V	FNDC1_ENST00000340366.6_Silent_p.V430V	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	493						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACCCCTCTGTGCCTGCTTCTC	0.547000													15	31					0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60635194	60635194	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:60635194C>T	ENST00000278853.5	+	1	160	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	54					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCTGGTGTTCCCCAGGCCAGG	0.682000													5	48					0	0	1	0	0
CFAP221	200373	broad.mit.edu	37	2	120395917	120395917	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:120395917C>T	ENST00000602047.1	+	21	2311	c.1199C>T	c.(1198-1200)cCc>cTc	p.P400L	PCDP1_ENST00000413369.3_Missense_Mutation_p.P686L			Q4G0U5	PCDP1_HUMAN		686						cilium	calmodulin binding					Colorectal(110;0.196)					TGCTCTCACCCCAAGTACAAA	0.483000													31	158					0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378400	31378400	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:31378400G>A	ENST00000297142.3	-	2	805	c.483C>T	c.(481-483)ttC>ttT	p.F161F		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	161					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.F161F(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AGTTTTGGACGAATGTGAGCA	0.483000													36	104					0	0	1	0	0
XYLT2	64132	broad.mit.edu	37	17	48437523	48437523	+	Silent	SNP	T	T	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:48437523T>A	ENST00000017003.2	+	11	2518	c.2469T>A	c.(2467-2469)gcT>gcA	p.A823A	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	823					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GGTCCGTGGCTGGACTGTGTG	0.677000													9	83					0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127771005	127771005	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:127771005G>A	ENST00000483725.3	-	4	876	c.540C>T	c.(538-540)agC>agT	p.S180S	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	180							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CCTCTTGAAAGCTGCATAATT	0.333000													29	108					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105662855	105662855	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:105662855C>T	ENST00000542731.1	+	14	2145	c.2037C>T	c.(2035-2037)gtC>gtT	p.V679V	CDHR3_ENST00000317716.9_Silent_p.V679V|CDHR3_ENST00000478080.1_Silent_p.V591V|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000343407.5_Intron			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	679	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V679V(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GTATTAAAGTCATTCCCCACC	0.483000													44	325					0	0	1	0	0
ADCK5	203054	broad.mit.edu	37	8	145617309	145617309	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:145617309C>T	ENST00000308860.6	+	11	1158	c.1114C>T	c.(1114-1116)Ccg>Tcg	p.P372S		NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	372	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCGGAAAGGCCCGGACGGGAA	0.657000													14	46					0	0	1	0	0
GPR101	83550	broad.mit.edu	37	X	136113488	136113488	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chrX:136113488A>G	ENST00000298110.1	-	1	345	c.346T>C	c.(346-348)Ttc>Ctc	p.F116L		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	116						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					ACGCTGGCGAAGGCGAACAGG	0.622000													6	13					0	0	1	0	0
NSMF	26012	broad.mit.edu	37	9	140344688	140344688	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:140344688T>C	ENST00000371475.3	-	13	1487	c.1256A>G	c.(1255-1257)tAt>tGt	p.Y419C	NSMF_ENST00000371474.3_Missense_Mutation_p.Y394C|NSMF_ENST00000371473.3_Missense_Mutation_p.Y389C|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000339554.3_Missense_Mutation_p.Y216C|NSMF_ENST00000541195.1_Missense_Mutation_p.Y216C|NSMF_ENST00000265663.7_Missense_Mutation_p.Y417C|NSMF_ENST00000392812.4_Missense_Mutation_p.Y396C|NSMF_ENST00000371482.1_Missense_Mutation_p.Y83C|NSMF_ENST00000437259.1_Missense_Mutation_p.Y396C|NSMF_ENST00000371472.2_Missense_Mutation_p.Y417C	NM_001130969.1	NP_001124441.1			NMDA receptor synaptonuclear signaling and neuronal migration factor																		CTTGAGGAGATAGAGGTGTCC	0.602000													59	153					0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150029608	150029608	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:150029608G>A	ENST00000394243.1	+	3	2877	c.2503G>A	c.(2503-2505)Gcc>Acc	p.A835T	SYNPO_ENST00000519664.1_Missense_Mutation_p.A591T|SYNPO_ENST00000522122.1_Missense_Mutation_p.A835T|SYNPO_ENST00000307662.4_Missense_Mutation_p.A591T	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	835	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCTCGCCCGCCAAGCCCAG	0.667000													4	178					0	0	1	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40735762	40735762	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:40735762T>A	ENST00000372759.3	+	5	755	c.590T>A	c.(589-591)tTt>tAt	p.F197Y		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	197						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GACTATTTTTTTATTTATGCC	0.328000													46	317					0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97852232	97852232	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:97852232G>A	ENST00000354565.2	+	1	691	c.691G>A	c.(691-693)Gat>Aat	p.D231N	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AAAGAAATCTGATAAAGGTGT	0.378000													37	104					0	0	1	0	0
MEF2C	4208	broad.mit.edu	37	5	88056823	88056823	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:88056823G>A	ENST00000340208.5	-	6	843	c.438C>T	c.(436-438)atC>atT	p.I146I	MEF2C_ENST00000424173.2_Silent_p.I126I|MEF2C_ENST00000437473.2_Intron|MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000506554.1_Intron|MEF2C_ENST00000514015.1_Intron|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000510942.1_Intron|MEF2C_ENST00000503554.1_Intron|MEF2C_ENST00000514028.1_Intron|MEF2C_ENST00000504921.2_Intron	NM_001193347.1	NP_001180276.1	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	128	Ser-rich.				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|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	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TATGACTCTTGATCATATTAT	0.408000										HNSCC(66;0.2)			11	48					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43048392	43048392	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr20:43048392G>A	ENST00000316099.3	+	7	857	c.768G>A	c.(766-768)ccG>ccA	p.P256P	HNF4A_ENST00000415691.1_Silent_p.P256P|HNF4A_ENST00000457232.1_Silent_p.P234P|HNF4A_ENST00000443598.2_Silent_p.P256P	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	256					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGCACTGCCCGGAGCTGGCGG	0.582000													56	136					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150459936	150459936	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:150459936T>G	ENST00000369064.3	+	1	44	c.10T>G	c.(10-12)Tat>Gat	p.Y4D	TARS2_ENST00000606933.1_Missense_Mutation_p.Y4D|TARS2_ENST00000369054.2_Missense_Mutation_p.Y4D|TARS2_ENST00000438568.2_Missense_Mutation_p.Y4D	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	4					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CATGGCCCTGTATCAGAGGTG	0.547000													32	112					0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424192	69424192	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chrX:69424192G>A	ENST00000333026.3	+	6	785	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	229					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TGGTGAGAACGAAGTTTTCAA	0.468000													17	10					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154919034	154919034	+	Silent	SNP	C	C	T	rs150382643		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:154919034C>T	ENST00000368463.3	-	10	1187	c.1116G>A	c.(1114-1116)agG>agA	p.R372R	PBXIP1_ENST00000539880.1_Silent_p.R199R|PBXIP1_ENST00000368465.1_Silent_p.R343R|PBXIP1_ENST00000542459.1_Silent_p.R217R	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	372					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTCCTGCTCCCTGGGGCCTT	0.637000													38	144					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118293309	118293309	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:118293309C>T	ENST00000425217.1	-	3	363	c.309G>A	c.(307-309)gaG>gaA	p.E103E	KSR2_ENST00000339824.5_Silent_p.E132E	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	132					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCGTATTTCTCCACAGTCT	0.612000													28	109					0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27128704	27128704	+	Splice_Site	SNP	G	G	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr15:27128704G>C	ENST00000335625.5	+	6	1385	c.497_splice	c.e6+1	p.R166_splice	GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000355395.5_Splice_Site_p.R166_splice|GABRA5_ENST00000400081.3_Splice_Site_p.R166_splice|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	166					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TACACCATGCGGTGAgcgccg	0.697000													6	17					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562543	140562543	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:140562543G>A	ENST00000361016.2	+	1	1564	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		137					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACTGAAAAGGAAATGATTCT	0.373000													12	55					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59962332	59962332	+	Silent	SNP	A	A	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:59962332A>G	ENST00000444766.3	-	16	2118	c.2043T>C	c.(2041-2043)tcT>tcC	p.S681S	INTS2_ENST00000251334.6_Silent_p.S673S	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	681					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CCATTAAAGAAGAAGAATATG	0.348000													6	22					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108385014	108385014	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:108385014C>T	ENST00000265843.4	-	6	1330	c.1220G>A	c.(1219-1221)aGg>aAg	p.R407K	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.R331K|EXPH5_ENST00000443411.1_Missense_Mutation_p.R219K|EXPH5_ENST00000525344.1_Missense_Mutation_p.R400K	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	407					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTGAAAACCCCTGGGATACAC	0.448000													77	149					0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243493840	243493840	+	Splice_Site	SNP	A	A	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:243493840A>T	ENST00000366541.3	+	10	1186		c.e10-1		SDCCAG8_ENST00000355875.4_Splice_Site|SDCCAG8_ENST00000343783.6_Splice_Site	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8						establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CTATCCTGGCAGGCTTTAATC	0.393000													27	47					0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118773520	118773520	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:118773520G>A	ENST00000334801.3	-	6	1896	c.932C>T	c.(931-933)cCc>cTc	p.P311L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	311	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGGGGCCGGGGGTGGCGGCGG	0.731000													11	9					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155732481	155732481	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:155732481C>T	ENST00000159060.2	-	11	1424	c.1322G>A	c.(1321-1323)tGg>tAg	p.W441*		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	441							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CCGGCAAATCCAGTAGAAATA	0.408000													19	47					0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33371118	33371118	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:33371118C>T	ENST00000428849.2	+	4	728	c.278C>T	c.(277-279)cCc>cTc	p.P93L	KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	93					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						AAGACAGGACCCCGGTGTTCC	0.498000													53	147					0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18154273	18154273	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:18154273T>C	ENST00000327031.4	-	14	1880	c.1655A>G	c.(1654-1656)gAg>gGg	p.E552G	FLII_ENST00000379450.4_Missense_Mutation_p.E466G|FLII_ENST00000579294.1_Missense_Mutation_p.E541G|FLII_ENST00000578558.1_Missense_Mutation_p.E551G|FLII_ENST00000545457.2_Missense_Mutation_p.E497G	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	552	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GAGTGTGGCCTCCCCGCCAAT	0.587000													10	60					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7654045	7654045	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:7654045C>T	ENST00000359156.4	-	3	349	c.147G>A	c.(145-147)aaG>aaA	p.K49K	CD163_ENST00000432237.2_Silent_p.K49K|CD163_ENST00000396620.3_Silent_p.K49K|CD163_ENST00000541972.1_Silent_p.K37K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	49					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCCTCAGCTCCTTGTCTGTTC	0.438000													40	103					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6209093	6209093	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:6209093C>T	ENST00000262450.3	-	9	1303	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	402					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)		tcctcctcttcatcgtcgtcg	0.706000													7	34					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35980105	35980105	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:35980105G>A	ENST00000490799.1	-	3	586	c.233C>T	c.(232-234)cCc>cTc	p.P78L	SLC26A8_ENST00000394602.2_Missense_Mutation_p.P78L|SLC26A8_ENST00000355574.2_Missense_Mutation_p.P78L	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	78					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TTCTAGGAAGGGAAAGATTGT	0.463000													59	119					0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49090499	49090499	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:49090499G>A	ENST00000323090.4	+	2	558	c.183G>A	c.(181-183)atG>atA	p.M61I	SULT2B1_ENST00000201586.2_Missense_Mutation_p.M76I	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	76					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CGACCTGGATGATCGAGATCA	0.522000													25	82					0	0	1	0	0
ENO3	2027	broad.mit.edu	37	17	4859344	4859344	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:4859344C>T	ENST00000323997.6	+	9	1105	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S	ENO3_ENST00000519584.1_Missense_Mutation_p.P282S|ENO3_ENST00000518175.1_Missense_Mutation_p.P325S	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	325					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						AGTCACCAACCCCAAGAGGAT	0.572000													50	101					0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50682897	50682897	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:50682897C>T	ENST00000008391.3	+	2	336	c.108C>T	c.(106-108)tcC>tcT	p.S36S		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	36							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TAGCCAATTCCACTGTCGCCT	0.547000													49	127					0	0	1	0	0
RNF215	200312	broad.mit.edu	37	22	30780446	30780446	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:30780446G>A	ENST00000382363.3	-	5	700	c.626C>T	c.(625-627)tCc>tTc	p.S209F		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	209						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						GGCAGACAGGGACTCTCCGCT	0.617000													23	62					0	0	1	0	0
SCNM1	79005	broad.mit.edu	37	1	151140650	151140650	+	Silent	SNP	T	T	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:151140650T>A	ENST00000368905.4	+	6	540	c.429T>A	c.(427-429)ctT>ctA	p.L143L		NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	143					mRNA processing|RNA splicing	nucleus	metal ion binding|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGTCTCCCTTTCCCCTATGC	0.542000													81	719					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				61	93					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21214509	21214509	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:21214509G>A	ENST00000574002.1	-	11	1518	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	ZP2_ENST00000219593.4_Missense_Mutation_p.R346W|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.R346W			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	346					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GTCTCTGGCCGAAGGAGAAAG	0.408000													36	78					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21227269	21227269	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:21227269G>A	ENST00000233242.1	-	28	12086	c.11959C>T	c.(11959-11961)Cat>Tat	p.H3987Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3987					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TAGCGCAGATGGAGATCGGTG	0.512000													41	90					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130877993	130877993	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:130877993G>A	ENST00000357462.5	-	1	189	c.96C>T	c.(94-96)ttC>ttT	p.F32F	POTEF_ENST00000360967.5_Silent_p.F32F|POTEF_ENST00000409914.2_Silent_p.F32F|POTEF_ENST00000361163.4_Silent_p.F32F			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	32						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGCAGCAGGGGAAGCAACGGC	0.572000													143	259					0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21599381	21599381	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:21599381C>T	ENST00000415912.2	-	4	381	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	ECE1_ENST00000436918.2_Missense_Mutation_p.E102K|ECE1_ENST00000264205.6_Missense_Mutation_p.E99K|ECE1_ENST00000374893.6_Missense_Mutation_p.E102K|ECE1_ENST00000357071.4_Missense_Mutation_p.E90K	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	102					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		ACACAAGCTTCGCTCAGGCAC	0.602000													33	95					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33065634	33065634	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr21:33065634G>A	ENST00000286835.7	-	12	1868	c.1486C>T	c.(1486-1488)Cct>Tct	p.P496S	SCAF4_ENST00000434667.3_Missense_Mutation_p.P481S|SCAF4_ENST00000399804.1_Missense_Mutation_p.P496S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	496						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTCACTTGAGGGAGGCCTTTT	0.433000													37	81					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50209359	50209359	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:50209359C>T	ENST00000392518.4	+	11	1530	c.1158C>T	c.(1156-1158)ccC>ccT	p.P386P	CPT1C_ENST00000405931.2_Silent_p.P375P|CPT1C_ENST00000323446.5_Silent_p.P386P|CPT1C_ENST00000354199.5_Silent_p.P386P|CPT1C_ENST00000598293.1_Silent_p.P386P	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	386					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CAGCTGCTCCCAGGTAAGGGT	0.647000													16	37					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46243818	46243818	+	Splice_Site	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:46243818G>A	ENST00000334344.6	+	15	2084		c.e15-1		ARID2_ENST00000444670.1_Splice_Site|ARID2_ENST00000479608.1_Splice_Site|ARID2_ENST00000422737.1_Splice_Site	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CATATTTTCAGGAATCCCTCA	0.333000			"""N, S, F"""		hepatocellular carcinoma								24	71					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72412623	72412623	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:72412623C>T	ENST00000395270.1	+	14	2337	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S	POM121_ENST00000358357.3_Silent_p.S432S|POM121_ENST00000434423.2_Silent_p.S697S|POM121_ENST00000446813.1_Silent_p.S432S|POM121_ENST00000257622.4_Silent_p.S432S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	697	Pore side (Potential).|Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGCCCCGTCCCCCGCCCCCA	0.602000													37	134					0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72142735	72142735	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:72142735C>T	ENST00000268482.3	+	24	3801	c.3292C>T	c.(3292-3294)Ccc>Tcc	p.P1098S	DHX38_ENST00000536867.1_Missense_Mutation_p.P410S	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1098					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CACAGGGATGCCCTGCCACTT	0.542000													26	56					0	0	1	0	0
MRPL35	51318	broad.mit.edu	37	2	86434315	86434315	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:86434315C>T	ENST00000337109.4	+	3	277	c.243C>T	c.(241-243)ccC>ccT	p.P81P	MRPL35_ENST00000605125.1_Intron|MRPL35_ENST00000409180.1_Silent_p.P81P|MRPL35_ENST00000254644.8_Silent_p.P81P	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	81			P -> L (in dbSNP:rs3192352).		translation	mitochondrial ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						GAATGGCCCCCGTGCTTCCAA	0.368000													10	25					0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59560294	59560294	+	Missense_Mutation	SNP	G	G	A	rs61739275		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:59560294G>A	ENST00000393853.4	+	9	1221	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q	TBX4_ENST00000240335.1_Missense_Mutation_p.R352Q|TBX4_ENST00000589449.1_3'UTR			P57082	TBX4_HUMAN	T-box 4	352					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCTTGCAAGCGATCCTATCTG	0.572000													10	43					0	0	1	0	0
NADK2	133686	broad.mit.edu	37	5	36226646	36226646	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:36226646G>A	ENST00000381937.4	-	3	408	c.409C>T	c.(409-411)Cgt>Tgt	p.R137C	NADK2_ENST00000506945.1_5'UTR|NADK2_ENST00000397338.1_5'UTR|NADK2_ENST00000282512.3_5'UTR|NADK2_ENST00000514504.1_Missense_Mutation_p.R137C	NM_001085411.1	NP_001078880.1			NAD kinase 2, mitochondrial																		TTTACTAGACGAACCTCAATT	0.378000													14	55					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55419106	55419106	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:55419106G>A	ENST00000312422.2	+	1	727	c.727G>A	c.(727-729)Gcc>Acc	p.A243T		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CTCCCACATTGCCATGGTCGT	0.473000													64	108					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155451261	155451261	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:155451261C>T	ENST00000461783.3	+	6	2177	c.904C>T	c.(904-906)Ctg>Ttg	p.L302L	TIAM2_ENST00000529824.2_Silent_p.L302L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Silent_p.L302L|TIAM2_ENST00000360366.4_Silent_p.L302L|TIAM2_ENST00000456144.1_Silent_p.L302L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	302					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCTCCGGGAACTGTACAAAGA	0.587000													22	74					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57086093	57086093	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:57086093C>T	ENST00000330619.8	+	5	960	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	ZNF470_ENST00000391709.3_Silent_p.L92L|ZNF470_ENST00000601902.1_Silent_p.L92L	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	92	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GAACAGAGGCCTGTGCCCAGG	0.453000													7	43					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995562	57995562	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:57995562G>A	ENST00000316770.2	-	1	828	c.786C>T	c.(784-786)ctC>ctT	p.L262L		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GCAGGTACACGAGGCTGCAGC	0.607000													33	45					0	0	1	0	0
CES1P1	51716	broad.mit.edu	37	16	55798733	55798733	+	RNA	SNP	G	G	C	rs78337607	by1000genomes	TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:55798733G>C	ENST00000571348.1	+	0	220					NR_003276.2																						TTGCCAAGCCGCCTCTTGGAC	0.547000													8	14					0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218954016	218954016	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:218954016C>T	ENST00000374155.3	+	11	2014	c.1604C>T	c.(1603-1605)tCc>tTc	p.S535F	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Missense_Mutation_p.S515F			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	515							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CATCTCTCTTCCATGGCTCCC	0.537000													12	47					0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131670550	131670550	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:131670550G>A	ENST00000259324.5	+	3	1630	c.1107G>A	c.(1105-1107)aaG>aaA	p.K369K	LRRC8A_ENST00000372600.4_Silent_p.K369K|LRRC8A_ENST00000372599.3_Silent_p.K369K	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	369					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CCGACGTCAAGAACGACTTCG	0.557000													58	71					0	0	1	0	0
FAM134A	79137	broad.mit.edu	37	2	220044923	220044923	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:220044923C>T	ENST00000430297.2	+	4	647	c.511C>T	c.(511-513)Cac>Tac	p.H171Y		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	171						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCCAGATTCACCTGCAGGA	0.587000													53	125					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325506	150325506	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:150325506G>A	ENST00000328902.5	-	3	396	c.180C>T	c.(178-180)atC>atT	p.I60I	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	60							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCTGCCGAGGATGCTGTTTC	0.552000													168	603					0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28331516	28331516	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:28331516C>T	ENST00000341901.4	+	4	1338	c.549C>T	c.(547-549)ttC>ttT	p.F183F		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	183	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						TGCTGCTGTTCGACCGCGAGT	0.692000													8	27					0	0	1	0	0
AK8	158067	broad.mit.edu	37	9	135702290	135702290	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:135702290G>A	ENST00000298545.3	-	8	1229	c.708C>T	c.(706-708)atC>atT	p.I236I	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	236						cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TGACTTTGAGGATTTTGGGGT	0.562000													84	197					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108788535	108788535	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:108788535G>A	ENST00000232603.5	-	9	841	c.759C>T	c.(757-759)ttC>ttT	p.F253F	MORC1_ENST00000483760.1_Silent_p.F253F	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	253					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGGCTTGAATGAATATTCTCA	0.358000													26	82					0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52448724	52448724	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:52448724C>T	ENST00000293471.6	+	6	2267	c.1588C>T	c.(1588-1590)Cat>Tat	p.H530Y	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.H494Y	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CCTTGTTTATCATAAGGGAAT	0.433000													25	53					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31294682	31294682	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr15:31294682A>C	ENST00000542188.1	-	27	4585	c.4272T>G	c.(4270-4272)gaT>gaG	p.D1424E	TRPM1_ENST00000397795.2_Missense_Mutation_p.D1385E|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.D1407E	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1385					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CATGTATCACATCTGTTTTAT	0.363000													4	225					0	0	1	0	0
RBM34	23029	broad.mit.edu	37	1	235324299	235324299	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:235324299T>A	ENST00000408888.3	-	2	367	c.137A>T	c.(136-138)gAa>gTa	p.E46V	RBM34_ENST00000366606.3_Missense_Mutation_p.E41V			P42696	RBM34_HUMAN	RNA binding motif protein 34	46						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			GGAATGGTGTTCGCCGCGAAA	0.582000													34	69					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21991433	21991433	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:21991433A>G	ENST00000594012.1	-	7	1902	c.1388T>C	c.(1387-1389)cTt>cCt	p.L463P	ZNF43_ENST00000598381.1_Missense_Mutation_p.L463P|ZNF43_ENST00000595461.1_Missense_Mutation_p.L463P|ZNF43_ENST00000354959.4_Missense_Mutation_p.L469P	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATGTGTAGTAAGGTTTGAGAA	0.383000													10	78					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734000	28734000	+	RNA	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:28734000G>A	ENST00000550043.1	+	0	405																											CAGAGCTTCTGAAACAGATAC	0.473000													41	62					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34065794	34065794	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr15:34065794G>A	ENST00000389232.4	+	64	9185	c.9115G>A	c.(9115-9117)Gga>Aga	p.G3039R	RYR3_ENST00000415757.3_Missense_Mutation_p.G3039R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3039					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTTGGGACGGGAAAGAACAT	0.383000													9	9					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325035	150325035	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:150325035C>T	ENST00000328902.5	-	3	867	c.651G>A	c.(649-651)gaG>gaA	p.E217E	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	217							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTCAACTTTCTCCATGAGCT	0.517000													199	260					0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17589202	17589202	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:17589202C>T	ENST00000319363.6	+	13	1226	c.1093C>T	c.(1093-1095)Ctg>Ttg	p.L365L		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	365					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CTTAGATGGCCTGCCTGCGGC	0.627000													11	64					0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80153149	80153149	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:80153149C>T	ENST00000389641.4	-	4	644	c.608G>A	c.(607-609)cGg>cAg	p.R203Q	CCDC57_ENST00000392347.1_Missense_Mutation_p.R203Q|CCDC57_ENST00000392343.3_Missense_Mutation_p.R203Q			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	203										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTTAAGCTCCCGGGACAAGGC	0.532000													4	12					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655436	19655436	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:19655436G>A	ENST00000586018.1	+	8	2202	c.2100G>A	c.(2098-2100)gaG>gaA	p.E700E	CILP2_ENST00000291495.4_Silent_p.E694E			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	694						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGGAGGAGGAGAGCGGCTTCC	0.721000													5	13					0	0	1	0	0
SHQ1	55164	broad.mit.edu	37	3	72890269	72890269	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:72890269G>A	ENST00000325599.8	-	4	552	c.413C>T	c.(412-414)tCa>tTa	p.S138L	SHQ1_ENST00000463369.1_Missense_Mutation_p.S110L	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	138					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		AGCACTTTCTGATACCTCTTC	0.413000													59	91					0	0	1	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103601678	103601678	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:103601678C>T	ENST00000560869.1	+	12	2585	c.1946C>T	c.(1945-1947)tCc>tTc	p.S649F	TNFAIP2_ENST00000538222.1_Missense_Mutation_p.S132F|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.S649F|TNFAIP2_ENST00000451723.2_Missense_Mutation_p.S318F			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	649					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CCCCTATTTTCCCTTATAAAG	0.597000													102	132					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6919597	6919597	+	Missense_Mutation	SNP	G	G	A	rs143078439		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:6919597G>A	ENST00000312053.4	+	13	1496	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	EMR1_ENST00000381407.5_Missense_Mutation_p.E346K|EMR1_ENST00000450315.3_Missense_Mutation_p.E310K|EMR1_ENST00000381404.4_Missense_Mutation_p.E435K|EMR1_ENST00000250572.8_Missense_Mutation_p.E487K	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	487	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGTGGGCATGGAATCGGTTTT	0.448000													28	96					0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52399744	52399744	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:52399744G>A	ENST00000354957.3	-	4	503	c.219C>T	c.(217-219)atC>atT	p.I73I	ZNF649_ENST00000600738.1_Silent_p.I73I|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTGGACTGTGGATTTCATCTT	0.498000													24	110					0	0	1	0	0
PIANP	196500	broad.mit.edu	37	12	6806467	6806467	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:6806467C>T	ENST00000534837.1	-	3	738	c.509G>A	c.(508-510)gGg>gAg	p.G170E	PIANP_ENST00000540656.1_Missense_Mutation_p.G170E|PIANP_ENST00000320591.5_Missense_Mutation_p.G170E	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein																		CCCACGGCCCCCGAACAGGAA	0.607000													7	49					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50544627	50544627	+	Splice_Site	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr15:50544627C>T	ENST00000267845.3	-	9	1443	c.1041_splice	c.e9+1	p.M347_splice	HDC_ENST00000543581.1_Splice_Site_p.M347_splice	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	347					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GGCCACTCACCATGAAGTCGG	0.597000													39	98					0	0	1	0	0
GORAB	92344	broad.mit.edu	37	1	170521301	170521301	+	Silent	SNP	T	T	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:170521301T>C	ENST00000367763.3	+	5	903	c.883T>C	c.(883-885)Ttg>Ctg	p.L295L		NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	295	Necessary for interaction with RCHY1.					Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GTTGGAGGAGTTGATGCAACA	0.448000													13	71					0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232389930	232389930	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:232389930C>T	ENST00000305141.4	-	3	1238	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	369					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CACAGGGCCTCCTGGAAGGTC	0.652000													35	79					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82508724	82508724	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:82508724C>T	ENST00000423517.2	-	10	13920	c.13583G>A	c.(13582-13584)gGa>gAa	p.G4528E	PCLO_ENST00000333891.8_Missense_Mutation_p.G4528E|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4440					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCAATTTCTCCACTATGTCC	0.373000													21	24					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151105749	151105749	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:151105749G>A	ENST00000341697.3	-	19	3695	c.2004C>T	c.(2002-2004)tcC>tcT	p.S668S				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	668						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCCGTCCTTGGAGGGCGGCG	0.761000													5	31					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													6	105					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33644824	33644824	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:33644824G>A	ENST00000242067.6	+	23	3171	c.2650G>A	c.(2650-2652)Gga>Aga	p.G884R	BBS9_ENST00000350941.3_Missense_Mutation_p.G844R|BBS9_ENST00000355070.2_Missense_Mutation_p.G879R|BBS9_ENST00000354265.4_Missense_Mutation_p.G849R|BBS9_ENST00000396127.2_Missense_Mutation_p.G849R	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	884					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.G884R(1)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ACCCCTCCAAGGAGTCTCGGA	0.438000									Bardet-Biedl syndrome				46	115					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386575	56386575	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:56386575G>A	ENST00000355701.3	-	22	4928	c.4058C>T	c.(4057-4059)tCt>tTt	p.S1353F	BZRAP1_ENST00000343736.4_Missense_Mutation_p.S1353F|BZRAP1_ENST00000268893.6_Missense_Mutation_p.S1293F	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1353						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTCTCGGGAAGAACAGCCTGC	0.617000													31	95					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167298082	167298082	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:167298082C>T	ENST00000409855.1	-	14	2107	c.1981G>A	c.(1981-1983)Gac>Aac	p.D661N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	661					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CAGTCTTTGTCTATGTGGCAG	0.443000													33	53					0	0	1	0	0
FOXJ3	22887	broad.mit.edu	37	1	42671524	42671524	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:42671524G>A	ENST00000372572.1	-	8	850	c.539C>T	c.(538-540)cCa>cTa	p.P180L	FOXJ3_ENST00000545068.1_Missense_Mutation_p.P180L|FOXJ3_ENST00000372573.1_Missense_Mutation_p.P180L|FOXJ3_ENST00000361776.1_Intron|FOXJ3_ENST00000361346.1_Missense_Mutation_p.P180L	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	180					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TATGCTATATGGAGTTGAGGC	0.348000													29	48					0	0	1	0	0
KIAA0247	9766	broad.mit.edu	37	14	70171406	70171406	+	Silent	SNP	C	C	T	rs150724393	by1000genomes	TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:70171406C>T	ENST00000342745.4	+	4	718	c.405C>T	c.(403-405)ctC>ctT	p.L135L		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	135						integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		TTCTCCTCCTCGTGGTGCTGT	0.527000													39	42					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120769243	120769243	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:120769243C>T	ENST00000527524.2	+	12	1454	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	GRIK4_ENST00000438375.2_Silent_p.I389I			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	389					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CTCCTCAGATCGGCCAGTGGC	0.602000													10	17					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109734536	109734536	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:109734536C>T	ENST00000277225.5	+	8	6967	c.6678C>T	c.(6676-6678)tcC>tcT	p.S2226S	ZNF462_ENST00000441147.2_Silent_p.S1132S|ZNF462_ENST00000542028.1_Silent_p.S183S|ZNF462_ENST00000457913.1_Silent_p.S2286S			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2226					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGACTGCTCCTTTTACACAG	0.512000													35	88					0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8584333	8584333	+	Silent	SNP	G	G	A	rs140868152		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:8584333G>A	ENST00000382487.4	+	2	1161	c.744G>A	c.(742-744)gcG>gcA	p.A248A	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	248					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TTGCTATTGCGACCTTCCTCA	0.622000													44	130					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048527	9048527	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:9048527G>A	ENST00000397910.4	-	5	33307	c.33104C>T	c.(33103-33105)tCa>tTa	p.S11035L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11037	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TACCTCAGGTGAAACAGTTGG	0.483000													29	106					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141766505	141766505	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:141766505C>T	ENST00000475668.2	+	41	4957	c.4903C>T	c.(4903-4905)Cgg>Tgg	p.R1635W	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1635	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACTGTTGTGCGGCCTCTGCT	0.483000													5	389					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82013572	82013572	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:82013572C>G	ENST00000395578.1	-	18	2277	c.2161G>C	c.(2161-2163)Gca>Cca	p.A721P	PRKG2_ENST00000545647.1_Missense_Mutation_p.A301P|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.A692P|PRKG2_ENST00000264399.1_Missense_Mutation_p.A721P			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	721	AGC-kinase C-terminal.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AGGCTCCGTGCTTTCAGTCCC	0.383000													37	89					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75499397	75499397	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr15:75499397C>T	ENST00000360639.2	+	2	1328	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P	C15orf39_ENST00000567617.1_Silent_p.P336P|C15orf39_ENST00000394987.4_Silent_p.P336P			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	336										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTTACATTCCCCCACTGGGGC	0.687000													57	124					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701771	56701771	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:56701771A>T	ENST00000586855.2	-	5	1226	c.913T>A	c.(913-915)Tcc>Acc	p.S305T	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.S305T			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	305					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGGGAAATGGAGGAGGCATCT	0.532000													71	163					0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144228212	144228212	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:144228212G>A	ENST00000549981.1	-	11	1036	c.313C>T	c.(313-315)Cca>Tca	p.P105S	TPK1_ENST00000378099.3_Intron|TPK1_ENST00000360057.3_Intron|TPK1_ENST00000538212.2_Intron|TPK1_ENST00000547966.1_Intron			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	0					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	attagtcttgggacgggatta	0.403000													4	8					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101200091	101200091	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:101200091C>A	ENST00000294728.2	+	8	1927	c.1826C>A	c.(1825-1827)cCt>cAt	p.P609H	VCAM1_ENST00000370119.4_Missense_Mutation_p.P547H|VCAM1_ENST00000370115.1_Missense_Mutation_p.P410H|VCAM1_ENST00000347652.2_Missense_Mutation_p.P517H	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	609	Ig-like C2-type 7.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ACAGCTTTTCCTTCTGAGAGT	0.358000													32	58					2.47316e-13	2.51019e-13	1	1	0
VWF	7450	broad.mit.edu	37	12	6091156	6091156	+	Splice_Site	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:6091156G>A	ENST00000261405.5	-	42	7337	c.7081_splice	c.e42-1	p.A2361_splice		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2361					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCTTCCTGCAGGCTGAGGGTA	0.582000													24	42					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058366	152058366	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:152058366C>T	ENST00000368806.1	-	3	1856	c.1792G>A	c.(1792-1794)Gga>Aga	p.G598R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	598							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCAGGTGTTCCCTGCCTCTGG	0.552000													85	193					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084569	9084569	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:9084569G>A	ENST00000397910.4	-	1	7449	c.7246C>T	c.(7246-7248)Ccc>Tcc	p.P2416S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2416	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAGATGTGGGAACCTGGGGT	0.493000													11	38					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24537739	24537739	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:24537739G>A	ENST00000264463.4	-	3	783	c.276C>T	c.(274-276)atC>atT	p.I92I		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	92	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCCAGATAAGATATATTTGA	0.368000										HNSCC(23;0.051)			8	71					0	0	1	0	0
CD38	952	broad.mit.edu	37	4	15841660	15841660	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:15841660G>A	ENST00000226279.2	+	6	808	c.671G>A	c.(670-672)aGt>aAt	p.S224N		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	224					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						ACTTTTGGGAGTGTGGAAGTC	0.453000													66	207					0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150723809	150723809	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:150723809G>A	ENST00000335244.4	-	2	313	c.184C>T	c.(184-186)Cac>Tac	p.H62Y	SLC36A2_ENST00000521967.1_Missense_Mutation_p.H62Y	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	62					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCACCAGGTGAATCAAGGCC	0.562000													11	34					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46900687	46900687	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr21:46900687G>C	ENST00000359759.4	+	12	2792	c.2771G>C	c.(2770-2772)gGg>gCg	p.G924A	COL18A1_ENST00000400337.2_Missense_Mutation_p.G509A|COL18A1_ENST00000355480.5_Missense_Mutation_p.G689A			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	924	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGCCGCTTTGGGGTGAACAGC	0.711000													5	59					0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15564297	15564297	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:15564297C>T	ENST00000343625.6	-	15	2371	c.2291G>A	c.(2290-2292)gGg>gAg	p.G764E		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	764					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GGGCTTCTCCCCTGCGGAGAG	0.662000													3	9					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4968024	4968024	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:4968024C>T	ENST00000380373.2	-	1	332	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGAAGAATTCCTGGGCAAAG	0.443000													62	242					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37442569	37442569	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr10:37442569A>C	ENST00000374660.1	+	13	1708	c.1609A>C	c.(1609-1611)Aaa>Caa	p.K537Q	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K537Q|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K537Q			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	593						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAAATAGATAAAATAAATGG	0.318000													38	113					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32351572	32351572	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr13:32351572C>T	ENST00000298386.2	+	8	772	c.701C>T	c.(700-702)tCc>tTc	p.S234F	RXFP2_ENST00000380314.1_Missense_Mutation_p.S234F	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	234						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GGATTAAATTCCTTGTTTTTC	0.313000													11	18					0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44377640	44377640	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:44377640G>A	ENST00000587539.1	-	3	725	c.726C>T	c.(724-726)ccC>ccT	p.P242P	ZNF404_ENST00000324394.6_Silent_p.P240P	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TACATTCAAAGGGTTTCAAGC	0.373000													52	85					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152621832	152621832	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:152621832G>A	ENST00000367255.5	-	93	18227	c.17626C>T	c.(17626-17628)Cca>Tca	p.P5876S	SYNE1_ENST00000265368.4_Missense_Mutation_p.P5876S|SYNE1_ENST00000341594.5_Missense_Mutation_p.P5488S|SYNE1_ENST00000356820.4_Missense_Mutation_p.P400S|SYNE1_ENST00000448038.1_Missense_Mutation_p.P5805S|SYNE1_ENST00000423061.1_Missense_Mutation_p.P5805S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5876					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGGCAGGTGGAGAGGAAATC	0.527000										HNSCC(10;0.0054)			24	56					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1267247	1267247	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:1267247G>T	ENST00000447027.1	+	31	9204	c.9146G>T	c.(9145-9147)aGg>aTg	p.R3049M	MUC5B_ENST00000529681.1_Missense_Mutation_p.R3046M|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3046	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCAGTCCAAGGACTGCAACC	0.612000													37	153					2.37825e-27	2.42945e-27	1	1	0
CTSG	1511	broad.mit.edu	37	14	25043576	25043576	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:25043576C>T	ENST00000216336.2	-	4	505	c.469G>A	c.(469-471)Gat>Aat	p.D157N		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	157	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CGGAGTGTATCTGTTCCCCTC	0.637000													62	84					0	0	1	0	0
ZNF273	10793	broad.mit.edu	37	7	64389396	64389396	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:64389396C>T	ENST00000476120.1	+	4	1761	c.1690C>T	c.(1690-1692)Cat>Tat	p.H564Y	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.H499Y	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TAAAAGAAATCATATGGGTGA	0.348000													33	91					0	0	1	0	0
STXBP1	6812	broad.mit.edu	37	9	130434349	130434349	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:130434349C>T	ENST00000373302.3	+	12	1122	c.983C>T	c.(982-984)tCc>tTc	p.S328F	STXBP1_ENST00000373299.1_Missense_Mutation_p.S328F|STXBP1_ENST00000481942.1_3'UTR	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	328					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CGGGACCTGTCCCAGATGCTG	0.493000													27	59					0	0	1	0	0
PUS10	150962	broad.mit.edu	37	2	61189966	61189966	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:61189966G>A	ENST00000316752.6	-	9	1044	c.783C>T	c.(781-783)ttC>ttT	p.F261F	PUS10_ENST00000407787.1_Silent_p.F261F	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	261					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			CTTACTTAAGGAAATCCTCTT	0.313000													4	25					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3978583	3978583	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:3978583G>A	ENST00000381638.2	-	22	3499	c.3375C>T	c.(3373-3375)ttC>ttT	p.F1125F		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1125							calcium ion binding|zinc ion binding	p.F1125F(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACCTGTCATCGAATTCCACTT	0.418000											OREG0024096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	101					0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113993097	113993097	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:113993097G>A	ENST00000429538.3	-	9	1155	c.961C>T	c.(961-963)Cct>Tct	p.P321S	PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000348715.5_Intron|PAX8_ENST00000263334.5_Intron|PAX8_ENST00000397647.3_Intron	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	321	Ser-rich.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						AAAGAGGAAGGGGTGGAGCTA	0.592000			T	PPARG	follicular thyroid		Thyroid dysgenesis						8	38					0	0	1	0	0
TYRP1	7306	broad.mit.edu	37	9	12695653	12695653	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:12695653A>T	ENST00000388918.5	+	3	653	c.524A>T	c.(523-525)aAc>aTc	p.N175I	TYRP1_ENST00000381137.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	175					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CCAGATGGCAACACGCCACAA	0.443000									Oculocutaneous Albinism				48	69					0	0	1	0	0
ZNF211	10520	broad.mit.edu	37	19	58153404	58153404	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:58153404C>T	ENST00000544273.1	+	5	1913	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F	ZNF211_ENST00000240731.4_Missense_Mutation_p.S530F|ZNF211_ENST00000299871.5_Missense_Mutation_p.S582F|ZNF211_ENST00000391703.3_Missense_Mutation_p.S456F|ZNF211_ENST00000254182.7_Missense_Mutation_p.S508F|ZNF211_ENST00000347302.3_Missense_Mutation_p.S517F|ZNF211_ENST00000541801.1_Missense_Mutation_p.S508F|ZNF211_ENST00000420680.1_Missense_Mutation_p.S521F			Q13398	ZN211_HUMAN	zinc finger protein 211	517						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGGGAAATCCTTTAGCCAA	0.433000													44	161					0	0	1	0	0
CRYGD	1421	broad.mit.edu	37	2	208986558	208986558	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:208986558G>A	ENST00000264376.4	-	3	391	c.364C>T	c.(364-366)Cac>Tac	p.H122Y		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	122	Beta/gamma crystallin 'Greek key' 3.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TTGAGGGAGTGGATTTCATTG	0.557000													27	171					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010424	78010424	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chrX:78010424C>T	ENST00000435339.2	+	2	463	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	LPAR4_ENST00000373301.2_Missense_Mutation_p.P20S|RP11-475D8.1_ENST00000514744.1_RNA	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	20						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						AAGCCTCAGACCCAGGTTGGG	0.438000													60	49					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135610433	135610433	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:135610433G>A	ENST00000513104.1	-	4	1338	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	TRPC7_ENST00000355180.3_Silent_p.F291F|TRPC7_ENST00000426057.2_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	352					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGACAGCCAGGAATTTCACAG	0.468000													8	29					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156643249	156643249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:156643249G>A	ENST00000368223.3	-	3	1111	c.979C>T	c.(979-981)Cag>Tag	p.Q327*		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	327	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)					CTCTTACCCTGAAAGCTGAGG	0.557000													57	106					0	0	1	0	0
FAM3B	54097	broad.mit.edu	37	21	42720628	42720628	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr21:42720628C>T	ENST00000398652.3	+	8	778	c.712C>T	c.(712-714)Cct>Tct	p.P238S	FAM3B_ENST00000398647.3_Missense_Mutation_p.P151S|FAM3B_ENST00000357985.2_Missense_Mutation_p.P199S|FAM3B_ENST00000398646.3_Missense_Mutation_p.P222S|FAM3B_ENST00000479810.2_3'UTR			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	199					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CTTGGAACTCCCTTCCGAAAT	0.433000													27	67					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373088	126373088	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:126373088G>A	ENST00000394329.3	+	9	10930	c.10917G>A	c.(10915-10917)caG>caA	p.Q3639Q	FAT4_ENST00000335110.5_Silent_p.Q1937Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3639					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAAGCCACAGGATCCAGATG	0.458000													48	115					0	0	1	0	0
CA6	765	broad.mit.edu	37	1	9018991	9018991	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:9018991C>T	ENST00000377443.2	+	4	435	c.431C>T	c.(430-432)tCt>tTt	p.S144F	CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377436.3_Missense_Mutation_p.S144F|CA6_ENST00000377442.2_Missense_Mutation_p.S84F	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	144					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	p.S144F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		CACTACAATTCTAAATACAAG	0.438000													128	264					0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91502687	91502687	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:91502687C>T	ENST00000266718.4	-	2	524	c.70G>A	c.(70-72)Gat>Aat	p.D24N	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	24					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						AGGGGAAAATCATAATCATAG	0.413000													18	61					0	0	1	0	0
PSMB4	5692	broad.mit.edu	37	1	151372153	151372153	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:151372153C>T	ENST00000290541.6	+	1	144	c.90C>T	c.(88-90)tcC>tcT	p.S30S		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	30					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTCCCGATTCCTTCATGGATC	0.612000													70	232					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107052681	107052681	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:107052681C>T	ENST00000409886.3	-	12	1743	c.1656G>A	c.(1654-1656)ttG>ttA	p.L552L	RGPD3_ENST00000304514.7_Silent_p.L552L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	552					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTAGAAGTCTCAATTTTGCTG	0.363000													44	137					0	0	1	0	0
MEIS1	4211	broad.mit.edu	37	2	66670075	66670075	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:66670075C>T	ENST00000488550.1	+	6	824	c.525C>T	c.(523-525)agC>agT	p.S175S	MEIS1_ENST00000560281.2_Silent_p.S175S|MEIS1_ENST00000398506.2_Silent_p.S173S|MEIS1_ENST00000444274.2_Silent_p.S143S|MEIS1_ENST00000272369.9_Silent_p.S175S|MEIS1_ENST00000495021.2_Silent_p.S110S|MEIS1_ENST00000407092.2_Silent_p.S175S			O00470	MEIS1_HUMAN	Meis homeobox 1	175							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						GGTATATTAGCTGTTTGAAAG	0.353000													72	222					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45312478	45312478	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:45312478G>A	ENST00000313237.5	-	4	396	c.246C>T	c.(244-246)ctC>ctT	p.L82L	PHF21B_ENST00000396103.3_Silent_p.L82L|PHF21B_ENST00000404079.2_Silent_p.L70L|PHF21B_ENST00000447824.3_Silent_p.L70L|PHF21B_ENST00000403565.1_5'UTR	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	82							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GGGCAACGGGGAGGCTGTCTG	0.657000													52	90					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50534838	50534838	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr15:50534838C>T	ENST00000267845.3	-	12	2010	c.1608G>A	c.(1606-1608)agG>agA	p.R536R	HDC_ENST00000543581.1_Silent_p.R503R	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	536					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GGCCATTTTCCCTTTTCATGG	0.557000													33	98					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72197010	72197010	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:72197010C>T	ENST00000555818.1	+	18	5264	c.4916C>T	c.(4915-4917)tCg>tTg	p.S1639L	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1618L|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1618L|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S1093L	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1639					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGAATGAAATCGCTGCATGGT	0.567000													61	78					0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41206328	41206328	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:41206328G>A	ENST00000324464.3	-	11	1223	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	ADCK4_ENST00000243583.6_Missense_Mutation_p.R267W|ADCK4_ENST00000450541.1_Missense_Mutation_p.R267W	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	308	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCTGGGACCCGGAAGAAGGGG	0.632000													16	40					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121745792	121745792	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:121745792C>T	ENST00000452319.1	+	14	2362	c.2302C>T	c.(2302-2304)Ctg>Ttg	p.L768L	GLI2_ENST00000314490.11_Silent_p.L440L|GLI2_ENST00000361492.4_Silent_p.L768L			P10070	GLI2_HUMAN	GLI family zinc finger 2	768					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGGCTCCATCCTGGAAAACTT	0.687000													18	51					0	0	1	0	0
CCDC64B	146439	broad.mit.edu	37	16	3079316	3079316	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:3079316C>T	ENST00000573514.1	-	5	2641	c.451G>A	c.(451-453)Gag>Aag	p.E151K	CCDC64B_ENST00000389347.4_Missense_Mutation_p.E358K|CCDC64B_ENST00000572449.1_Missense_Mutation_p.E358K			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	358										breast(1)|endometrium(2)|large_intestine(1)	4						ACCTCCTTCTCCTCCAGTATC	0.607000													5	25					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269289	150269289	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:150269289G>A	ENST00000255945.2	+	3	306	c.131G>A	c.(130-132)aGt>aAt	p.S44N	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.S58N	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	44							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGGAAAAAGTGCAACAGGA	0.463000													18	130					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103090133	103090133	+	Translation_Start_Site	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:103090133G>A	ENST00000295269.4	+	0	372					NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4						regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GACCCAGGTGGATGCAGTCAC	0.493000													12	28					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735637	55735637	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:55735637C>T	ENST00000312345.2	-	1	353	c.303G>A	c.(301-303)acG>acA	p.T101T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GGAGACACTCCGTGCCTCCAA	0.428000													5	92					0	0	1	0	0
CENPO	79172	broad.mit.edu	37	2	25037352	25037352	+	Silent	SNP	T	T	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:25037352T>C	ENST00000380834.2	+	4	749	c.324T>C	c.(322-324)taT>taC	p.Y108Y	CENPO_ENST00000260662.1_Silent_p.Y108Y|CENPO_ENST00000473706.1_Silent_p.Y102Y			Q9BU64	CENPO_HUMAN	centromere protein O	108					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TGCAGGCATATCATTTTACAG	0.373000													4	164					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77294658	77294658	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:77294658G>A	ENST00000393774.3	+	2	237	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Missense_Mutation_p.R21Q	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	38										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GAGCCAGTACGACAGAGCAGC	0.498000													20	33					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103038419	103038419	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:103038419C>T	ENST00000306312.3	-	9	1192	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	SLC26A5_ENST00000339444.6_Missense_Mutation_p.E311K|SLC26A5_ENST00000393723.1_Missense_Mutation_p.E311K|SLC26A5_ENST00000393729.1_Missense_Mutation_p.E274K|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393735.2_Missense_Mutation_p.E311K|SLC26A5_ENST00000393730.1_Missense_Mutation_p.E311K|SLC26A5_ENST00000432958.2_Missense_Mutation_p.E311K|SLC26A5_ENST00000356767.4_Missense_Mutation_p.E311K|SLC26A5_ENST00000393727.1_Missense_Mutation_p.E311K	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	311					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.E311Q(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TTGTATGATTCTTTCAAGTTA	0.373000													29	130					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661969	8661969	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:8661969G>A	ENST00000270328.4	-	7	1208	c.942C>T	c.(940-942)ttC>ttT	p.F314F	ADAMTS10_ENST00000597188.1_Silent_p.F314F			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	314	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GCCACTTACAGAAGCTGTCCA	0.587000													21	104					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30955860	30955860	+	Silent	SNP	T	T	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:30955860T>A	ENST00000376296.3	+	3	1831	c.1590T>A	c.(1588-1590)ccT>ccA	p.P530P	MUC21_ENST00000486149.2_Silent_p.P76P	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	530	Cytoplasmic tail.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GTCCAGGCCCTGGAGGGAATC	0.547000													30	81					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802974	185802974	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:185802974C>T	ENST00000302277.6	+	4	3445	c.2851C>T	c.(2851-2853)Cct>Tct	p.P951S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	951						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAAGCAAATTCCTTTTCAGGT	0.388000													26	90					0	0	1	0	0
DEPTOR	64798	broad.mit.edu	37	8	120886146	120886146	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:120886146C>T	ENST00000286234.5	+	1	190	c.60C>T	c.(58-60)ggC>ggT	p.G20G	DEPTOR_ENST00000523492.1_Silent_p.G20G|KB-1471A8.1_ENST00000500705.3_lincRNA	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	20					intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						GCGGGAGTGGCGGGGCGCAGC	0.657000													4	92					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152193161	152193161	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:152193161C>A	ENST00000368801.2	-	3	1019	c.944G>T	c.(943-945)gGt>gTt	p.G315V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	315					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCCCGAACCGGACCCATG	0.602000													83	255					1.11057e-38	1.13693e-38	1	1	0
TENM3	55714	broad.mit.edu	37	4	183713475	183713475	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:183713475G>A	ENST00000511685.1	+	26	5773	c.5650G>A	c.(5650-5652)Gat>Aat	p.D1884N	TENM3_ENST00000406950.2_Missense_Mutation_p.D1884N					teneurin transmembrane protein 3																		CTTCGAATACGATATGTGGGA	0.502000													39	41					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32187988	32187988	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:32187988G>A	ENST00000375023.3	-	7	1371	c.1233C>T	c.(1231-1233)ccC>ccT	p.P411P		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	411	EGF-like 10.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGCCTGTGAGGGGGTTGGTGC	0.627000													39	94					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66502032	66502032	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:66502032C>T	ENST00000383703.3	-	3	919	c.316G>A	c.(316-318)Gcg>Acg	p.A106T	LRIG1_ENST00000273261.3_Missense_Mutation_p.A106T			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	106						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GATGGTACCGCTGTCAACTCA	0.443000													67	77					0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583362	10583362	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:10583362G>A	ENST00000304501.1	-	2	1131	c.1053C>T	c.(1051-1053)ctC>ctT	p.L351L	SOX7_ENST00000554914.1_Silent_p.L403L|SOX7_ENST00000553390.1_Silent_p.L403L	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	351	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CATGCCCACTGAGGGCCATGG	0.602000													27	41					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202403897	202403897	+	Splice_Site	SNP	G	G	A	rs145788822		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:202403897G>A	ENST00000406302.3	+	9	1407		c.e9+1		PPP1R12B_ENST00000480184.1_Splice_Site|PPP1R12B_ENST00000356764.2_Intron|PPP1R12B_ENST00000336894.4_Splice_Site	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TGCTAGGAGGGTGAGTACTTT	0.393000													14	63					0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58477327	58477327	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:58477327C>T	ENST00000344743.3	-	6	944	c.803G>A	c.(802-804)aGc>aAc	p.S268N	GLYAT_ENST00000529732.1_Missense_Mutation_p.S268N	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	268					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	AGCTTCATTGCTGTAGTCTAC	0.473000													21	67					0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115421707	115421707	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:115421707C>T	ENST00000337530.6	+	4	1805	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	KIAA1958_ENST00000536272.1_Silent_p.F531F	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	503										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GCAGCACCTTCAGCTCCTCCA	0.582000													30	43					0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27114756	27114756	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:27114756G>A	ENST00000263182.3	+	5	744	c.376G>A	c.(376-378)Gat>Aat	p.D126N	BBOX1_ENST00000525090.1_Missense_Mutation_p.D126N|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.D126N|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.D126N|BBOX1_ENST00000527505.1_Intron	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	126					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	ACCCACTTTGGATTTTGAAGA	0.408000													22	33					0	0	1	0	0
LINC01410	103352539	broad.mit.edu	37	9	66469107	66469107	+	RNA	SNP	C	C	A	rs146923748	by1000genomes	TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:66469107C>A	ENST00000424345.1	+	0	2674																											TAAGCATGGACATATTGAAGA	0.358000													3	12					0.014758	0.0147892	1	1	0
SSPO	23145	broad.mit.edu	37	7	149520532	149520532	+	RNA	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:149520532G>A	ENST00000378016.2	+	0	13350							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)			AGCTCTGCCAGGACCTGCCAC	0.652000													18	126					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10300146	10300146	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:10300146C>T	ENST00000403437.2	-	31	4430	c.4336G>A	c.(4336-4338)Gat>Aat	p.D1446N	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1446					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGCTTCTTATCAAGGGCTGCA	0.448000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				41	94					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18827157	18827157	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr10:18827157G>A	ENST00000396576.2	+	12	1687	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	CACNB2_ENST00000352115.6_Missense_Mutation_p.E427K|CACNB2_ENST00000377328.1_Missense_Mutation_p.E201K|CACNB2_ENST00000282343.8_Missense_Mutation_p.E423K|CACNB2_ENST00000377329.4_Missense_Mutation_p.E397K|CACNB2_ENST00000324631.7_Missense_Mutation_p.E451K|CACNB2_ENST00000377331.2_Missense_Mutation_p.E399K|CACNB2_ENST00000377315.4_Missense_Mutation_p.E403K|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377319.3_Missense_Mutation_p.E358K	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	451					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGATGCCTGTGAGCACCTTGC	0.557000													72	101					0	0	1	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158980379	158980379	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:158980379C>T	ENST00000485419.1	+	4	367	c.198C>T	c.(196-198)ccC>ccT	p.P66P	IQCJ_ENST00000397832.2_Silent_p.P66P|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.P39P|IQCJ_ENST00000482126.1_Silent_p.P39P|IQCJ_ENST00000481796.1_3'UTR|IQCJ_ENST00000451172.1_Silent_p.P66P|IQCJ-SCHIP1_ENST00000467442.1_3'UTR	NM_001197113.1	NP_001184042.1	Q9P0W5	SCHI1_HUMAN		0	Ser-rich.					cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						GGCAGGAGCCCCTGGGGAAGA	0.537000													36	123					0	0	1	0	0
LHX4	89884	broad.mit.edu	37	1	180217425	180217425	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:180217425C>T	ENST00000263726.2	+	2	326	c.82C>T	c.(82-84)Ccc>Tcc	p.P28S		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	28	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						CACAGAGATTCCCCAGTGCGC	0.602000													12	30					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17690103	17690103	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:17690103G>A	ENST00000375448.4	+	16	1871	c.1845G>A	c.(1843-1845)aaG>aaA	p.K615K		NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	615					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)	TGGAGGAGAAGGTGTGTTCCC	0.617000													27	42					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27730158	27730158	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:27730158A>G	ENST00000264717.2	+	13	1186	c.1123A>G	c.(1123-1125)Aag>Gag	p.K375E	GCKR_ENST00000424318.2_Missense_Mutation_p.K185E	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	375	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GTTTAACCAGAAGGCTGAGCT	0.502000													42	352					0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86198758	86198758	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:86198758T>G	ENST00000361228.3	-	2	1398	c.1030A>C	c.(1030-1032)Aaa>Caa	p.K344Q		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	344					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCACTGTATTTAATCTCTTTC	0.378000													40	295					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58123502	58123502	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:58123502A>G	ENST00000184956.6	-	19	2874	c.2858T>C	c.(2857-2859)aTt>aCt	p.I953T	HEATR6_ENST00000585976.1_Missense_Mutation_p.I841T	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	953							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AGACTCCTCAATGATTTCTGC	0.388000													46	85					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70066717	70066717	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:70066717C>T	ENST00000330891.5	-	8	1122	c.896G>A	c.(895-897)gGa>gAa	p.G299E	BEST3_ENST00000553096.1_Missense_Mutation_p.G193E|BEST3_ENST00000488961.1_Missense_Mutation_p.G86E|BEST3_ENST00000331471.4_Missense_Mutation_p.G299E|BEST3_ENST00000476098.1_Missense_Mutation_p.G86E	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	299						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			ATCATCTTCTCCAAAAGGGTT	0.328000													20	41					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10228307	10228307	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:10228307C>T	ENST00000377157.3	+	23	3638	c.2577C>T	c.(2575-2577)gtC>gtT	p.V859V	UBE4B_ENST00000343090.6_Silent_p.V1104V|UBE4B_ENST00000253251.8_Silent_p.V975V	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1104					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CGAAGCAGGTCCAGAAGCCCT	0.542000													26	41					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167841479	167841479	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:167841479C>T	ENST00000265293.4	+	9	1570	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	WWC1_ENST00000521089.1_Silent_p.F356F	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	356					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGATGCGCTTCATCAGCCCCC	0.637000													3	7					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10715808	10715808	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:10715808G>A	ENST00000377022.3	-	9	1880	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	CASZ1_ENST00000344008.5_Silent_p.S521S	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGTGCTGCAGGGAGTTGTCGC	0.602000													30	65					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75055654	75055654	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:75055654C>T	ENST00000326665.5	-	12	2055	c.1837G>A	c.(1837-1839)Gaa>Aaa	p.E613K	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.E416K	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	613	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTGGCACTTTCATCTGTGCTG	0.448000													36	83					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139189598	139189598	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:139189598C>T	ENST00000395297.1	-	11	1265	c.1095G>A	c.(1093-1095)caG>caA	p.Q365Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	365										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACAGATTCTCCTGAAATGTCA	0.418000										HNSCC(54;0.14)			14	43					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527429	23527429	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:23527429G>A	ENST00000296682.3	+	11	2414	c.2232G>A	c.(2230-2232)ggG>ggA	p.G744G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	744					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CACACACAGGGGAGAAGCCCT	0.577000										HNSCC(3;0.000094)			38	150					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121641968	121641968	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:121641968G>A	ENST00000489711.1	+	10	1337	c.949G>A	c.(949-951)Gat>Aat	p.D317N	SLC15A2_ENST00000295605.2_Missense_Mutation_p.D286N	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	317					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GGCTCTTTTGGATCAGCAGGT	0.453000													53	146					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61310445	61310445	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr18:61310445G>A	ENST00000341074.5	-	3	287	c.172C>T	c.(172-174)Cac>Tac	p.H58Y	SERPINB4_ENST00000356424.6_Missense_Mutation_p.H58Y	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGATCAAAGTGAAGAACCTGG	0.438000													27	58					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37949117	37949117	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:37949117C>T	ENST00000346872.3	-	4	294	c.233G>A	c.(232-234)gGa>gAa	p.G78E	IKZF3_ENST00000377945.3_Missense_Mutation_p.G78E|IKZF3_ENST00000467757.1_Missense_Mutation_p.G78E|IKZF3_ENST00000439167.2_Missense_Mutation_p.G44E|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000377958.2_Intron|IKZF3_ENST00000351680.3_Missense_Mutation_p.G78E|IKZF3_ENST00000350532.3_Missense_Mutation_p.G78E|IKZF3_ENST00000346243.3_Missense_Mutation_p.G78E|IKZF3_ENST00000535189.1_Missense_Mutation_p.G44E|IKZF3_ENST00000439016.2_Missense_Mutation_p.G78E	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	78					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTCTGCATTTCCCATGGGTTC	0.353000													36	86					0	0	1	0	0
UCK2	7371	broad.mit.edu	37	1	165860484	165860484	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:165860484T>A	ENST00000367879.4	+	3	584	c.281T>A	c.(280-282)aTt>aAt	p.I94N	UCK2_ENST00000372212.4_Missense_Mutation_p.I94N	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	94					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					AATGAACTCATTCTCAAAACA	0.388000													20	36					0	0	1	0	0
NOG	9241	broad.mit.edu	37	17	54671944	54671944	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:54671944C>T	ENST00000332822.4	+	1	885	c.360C>T	c.(358-360)atC>atT	p.I120I		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	120					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity			ovary(1)	1	Breast(9;5.24e-08)					CGAGCGAGATCAAAGGGCTAG	0.687000													10	24					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60837289	60837289	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:60837289G>A	ENST00000544856.2	-	5	667	c.289C>T	c.(289-291)Cca>Tca	p.P97S	MARCH10_ENST00000583600.1_Missense_Mutation_p.P97S|MARCH10_ENST00000456609.2_Missense_Mutation_p.P97S|MARCH10_ENST00000311269.5_Missense_Mutation_p.P97S			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	97							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TCAATTGCTGGAAGTTTGGAG	0.428000													36	125					0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55200318	55200318	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:55200318G>A	ENST00000337526.6	-	9	3796	c.3553C>T	c.(3553-3555)Cct>Tct	p.P1185S	RTN4_ENST00000486085.1_5'UTR|RTN4_ENST00000317610.7_Missense_Mutation_p.P366S|RTN4_ENST00000404909.1_Missense_Mutation_p.P979S|RTN4_ENST00000405240.1_Missense_Mutation_p.P979S|RTN4_ENST00000402434.2_Missense_Mutation_p.P338S|RTN4_ENST00000394609.2_Missense_Mutation_p.P192S|RTN4_ENST00000394611.2_Missense_Mutation_p.P979S|RTN4_ENST00000357732.4_Missense_Mutation_p.P385S|RTN4_ENST00000357376.3_Missense_Mutation_p.P979S|RTN4_ENST00000354474.6_Missense_Mutation_p.P953S	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	1185	Reticulon.				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TTCAATCCAGGGATTTTTGCT	0.363000													14	45					0	0	1	0	0
HEYL	26508	broad.mit.edu	37	1	40092578	40092578	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:40092578C>T	ENST00000372852.3	-	5	907	c.588G>A	c.(586-588)ctG>ctA	p.L196L	HEYL_ENST00000535435.1_Silent_p.L168L	NM_014571.3	NP_055386.1	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	196	Pro-rich.				multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCACTCTTCCCAGGATGGCGA	0.662000													6	42					0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117311124	117311124	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:117311124G>A	ENST00000369478.3	+	5	883	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	259					blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AGTAGCTACTGAAGAAAGGGG	0.502000													35	52					0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863920	55863920	+	Translation_Start_Site	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:55863920C>T	ENST00000327335.4	-	1	2	c.3G>A	c.(1-3)atG>atA	p.M1I	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TATGATTCTTCATTTCTCTGT	0.343000													10	50					0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47110128	47110128	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr18:47110128G>A	ENST00000261292.4	+	8	1638	c.1360G>A	c.(1360-1362)Ggg>Agg	p.G454R	LIPG_ENST00000427224.2_Missense_Mutation_p.G380R	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	454	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GGTGAAGTCTGGGGAAACCCA	0.562000													7	42					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130464009	130464009	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:130464009A>C	ENST00000356763.3	-	2	611	c.54T>G	c.(52-54)agT>agG	p.S18R		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	18					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CTGAAAAATAACTCTCTACAG	0.438000													26	48					0	0	1	0	0
MGRN1	23295	broad.mit.edu	37	16	4731686	4731686	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:4731686C>T	ENST00000399577.5	+	13	1360	c.1267C>T	c.(1267-1269)Ctg>Ttg	p.L423L	MGRN1_ENST00000262370.7_Silent_p.L423L|MGRN1_ENST00000586183.1_Silent_p.L401L|MGRN1_ENST00000415496.1_Silent_p.L402L|MGRN1_ENST00000588994.1_Silent_p.L401L	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	423					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CTCGGACGGCCTGTCCCAGGC	0.667000													44	86					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095080	130095080	+	Splice_Site	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:130095080G>A	ENST00000265379.6	+	3	562	c.67_splice	c.e3-1	p.G23_splice	COL6A5_ENST00000432398.2_Splice_Site_p.G23_splice			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	23	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ATTTTGATAGGGCCAGGCCCT	0.388000													18	70					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653480	159653480	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:159653480G>A	ENST00000297267.9	+	11	2136	c.1936G>A	c.(1936-1938)Gac>Aac	p.D646N	FNDC1_ENST00000340366.6_Missense_Mutation_p.D583N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	646						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGACTTGGTGGACTCAGACGA	0.697000													18	71					0	0	1	0	0
TMEM136	219902	broad.mit.edu	37	11	120201160	120201160	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:120201160C>T	ENST00000375095.2	+	3	915	c.674C>T	c.(673-675)gCt>gTt	p.A225V	TMEM136_ENST00000314475.2_Missense_Mutation_p.A247V|TMEM136_ENST00000531346.1_3'UTR|TMEM136_ENST00000529187.1_Missense_Mutation_p.A128V	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	225						integral to membrane				endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		AAGTACCATGCTTGGAGAAGC	0.488000													34	38					0	0	1	0	0
ENTPD8	377841	broad.mit.edu	37	9	140331063	140331063	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:140331063G>A	ENST00000371506.2	-	6	879	c.696C>T	c.(694-696)ctC>ctT	p.L232L	ENTPD8_ENST00000344119.2_Silent_p.L232L|ENTPD8_ENST00000472938.1_Silent_p.L232L	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	232						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CGGAGCCGTAGAGGCGAAAAT	0.632000													7	22					0	0	1	0	0
SHPK	23729	broad.mit.edu	37	17	3513866	3513866	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:3513866C>T	ENST00000225519.3	-	7	1527	c.1425G>A	c.(1423-1425)caG>caA	p.Q475Q		NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	475					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		AAGATTCCTTCTGGTTGAGGT	0.527000													70	135					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121707244	121707244	+	Silent	SNP	G	G	A	rs140505657		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:121707244G>A	ENST00000273691.3	-	7	1584	c.1479C>T	c.(1477-1479)agC>agT	p.S493S	ILDR1_ENST00000462014.1_Silent_p.S505S|ILDR1_ENST00000393631.1_Silent_p.S448S|ILDR1_ENST00000344209.5_Silent_p.S537S	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	537						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CACTATGAGAGCTGTCTTTCT	0.433000													25	76					0	0	1	0	0
ALX1	8092	broad.mit.edu	37	12	85680646	85680646	+	Nonsense_Mutation	SNP	C	C	T	rs150997122		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:85680646C>T	ENST00000316824.3	+	3	702	c.547C>T	c.(547-549)Cga>Tga	p.R183*		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	183					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GTTTCAAAATCGAAGGGCCAA	0.333000													14	44					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139416130	139416130	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:139416130G>A	ENST00000406875.3	-	2	798	c.704C>T	c.(703-705)tCc>tTc	p.S235F	HIPK2_ENST00000428878.2_Missense_Mutation_p.S235F|HIPK2_ENST00000342645.6_Missense_Mutation_p.S235F	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	235	Interaction with DAXX.|Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TCGGGCATAGGATGGGTGGTT	0.547000													62	87					0	0	1	0	0
PATL1	219988	broad.mit.edu	37	11	59422996	59422996	+	Splice_Site	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:59422996C>T	ENST00000300146.9	-	8	1115	c.1031_splice	c.e8+1	p.R344_splice		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	344	Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TTTTGTATACCTTAGGTTTTG	0.473000													5	4					0	0	1	0	0
CTSL3P	392360	broad.mit.edu	37	9	90388511	90388511	+	RNA	SNP	C	C	G	rs138191329	byFrequency	TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:90388511C>G	ENST00000354530.2	+	0	377					NR_027917.1													p.P126L(2)									AGTATGTTGCCGACAATGGAG	0.458000													40	127					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131225641	131225641	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:131225641G>A	ENST00000337057.3	-	6	1074	c.893C>T	c.(892-894)cCt>cTt	p.P298L	EPB41L2_ENST00000445890.2_Missense_Mutation_p.P298L|EPB41L2_ENST00000527411.1_Missense_Mutation_p.P298L|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000529208.1_Missense_Mutation_p.P298L|EPB41L2_ENST00000392427.3_Missense_Mutation_p.P298L|EPB41L2_ENST00000525193.1_Missense_Mutation_p.P298L|EPB41L2_ENST00000368128.2_Missense_Mutation_p.P298L|EPB41L2_ENST00000528282.1_Missense_Mutation_p.P298L|EPB41L2_ENST00000525271.1_Missense_Mutation_p.P298L|EPB41L2_ENST00000530481.1_Missense_Mutation_p.P298L|EPB41L2_ENST00000527659.1_Missense_Mutation_p.P298L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	298	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		AGGATCAGGAGGATAAAACTT	0.333000													20	51					0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22562904	22562904	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr20:22562904C>T	ENST00000419308.2	-	2	1160	c.958G>A	c.(958-960)Gga>Aga	p.G320R	FOXA2_ENST00000377115.4_Missense_Mutation_p.G320R|FOXA2_ENST00000319993.4_Missense_Mutation_p.G326R	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	320					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TTCAGCTCTCCCAGGCCCCCT	0.786000													3	8					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10883162	10883162	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:10883162C>T	ENST00000314646.5	+	3	407	c.243C>T	c.(241-243)gcC>gcT	p.A81A	DNM2_ENST00000585892.1_Silent_p.A81A|DNM2_ENST00000408974.4_Silent_p.A81A|DNM2_ENST00000389253.4_Silent_p.A81A|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000355667.6_Silent_p.A81A|DNM2_ENST00000359692.6_Silent_p.A81A			P50570	DYN2_HUMAN	dynamin 2	81					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TAGAACATGCCGAGTTTTTGC	0.483000			"""F, N, Splice, Mis, O"""		ETP ALL								29	116					0	0	1	0	0
DKK1	22943	broad.mit.edu	37	10	54074331	54074331	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr10:54074331C>T	ENST00000373970.3	+	1	276	c.137C>T	c.(136-138)cCc>cTc	p.P46L		NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	46					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						AAGAACCTGCCCCCACCGCTG	0.647000											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	74					0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922304	43922304	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:43922304G>A	ENST00000329196.5	+	1	49	c.32G>A	c.(31-33)gGc>gAc	p.G11D	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	11						integral to membrane	aspartic-type endopeptidase activity										CTCCCCGTGGGCTTCCTCCTC	0.637000													53	78					0	0	1	0	0
PNMT	5409	broad.mit.edu	37	17	37826546	37826546	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:37826546G>A	ENST00000269582.2	+	3	1071	c.753G>A	c.(751-753)cgG>cgA	p.R251R	PNMT_ENST00000394246.1_Silent_p.R153R	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	251					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACAAGGTCCGGGACCTCCGCA	0.627000													14	22					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207760774	207760774	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:207760774G>A	ENST00000367049.4	+	34	5574	c.5574G>A	c.(5572-5574)acG>acA	p.T1858T	CR1_ENST00000400960.2_Silent_p.T1408T|CR1_ENST00000367051.1_Silent_p.T1408T|CR1_ENST00000367053.1_Silent_p.T1408T|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Silent_p.T1408T|RP11-78B10.2_ENST00000596003.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1408	Sushi 29.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCAGTCCTACGATCCCAATTA	0.438000													7	86					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117121854	117121854	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:117121854C>T	ENST00000310357.3	-	4	1462	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Missense_Mutation_p.E306K	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	481					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CCATTGATCTCCTTCCAGAGC	0.388000													24	115					0	0	1	0	0
CRYBB1	1414	broad.mit.edu	37	22	26997986	26997986	+	Splice_Site	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:26997986C>T	ENST00000215939.2	-	5	563		c.e5-1			NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1						visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CCTGGGCATCCTGGGGAAAGA	0.562000													21	69					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20976407	20976407	+	Silent	SNP	T	T	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:20976407T>A	ENST00000261383.3	-	53	8798	c.8799A>T	c.(8797-8799)gtA>gtT	p.V2933V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2933	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGAGCCGATCTACCACCAGCT	0.532000													140	328					0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59556032	59556032	+	Silent	SNP	C	C	T	rs147048921		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:59556032C>T	ENST00000393853.4	+	6	757	c.594C>T	c.(592-594)atC>atT	p.I198I	TBX4_ENST00000240335.1_Silent_p.I198I|TBX4_ENST00000589449.1_3'UTR			P57082	TBX4_HUMAN	T-box 4	198					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGCTCCACATCGTTAAGGCTG	0.547000													81	168					0	0	1	0	0
MTMR9	66036	broad.mit.edu	37	8	11174302	11174302	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:11174302C>T	ENST00000221086.3	+	8	1707	c.1234C>T	c.(1234-1236)Ccc>Tcc	p.P412S	MTMR9_ENST00000526292.1_Missense_Mutation_p.P327S|AF131216.6_ENST00000498997.2_RNA	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	412	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		TCGTCAGTTTCCCTGTTCTTT	0.458000													30	32					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31918653	31918653	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:31918653G>A	ENST00000396184.3	-	5	585	c.381C>T	c.(379-381)ttC>ttT	p.F127F	PDE1C_ENST00000396182.2_Silent_p.F127F|PDE1C_ENST00000396193.1_Silent_p.F187F|PDE1C_ENST00000321453.7_Silent_p.F127F|PDE1C_ENST00000396191.1_Silent_p.F127F	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	127					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CGATGCTCTTGAACCGGGGCT	0.532000													38	116					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151166543	151166543	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:151166543G>A	ENST00000282466.3	-	4	1225	c.1226C>T	c.(1225-1227)cCt>cTt	p.P409L		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	409					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCAGGCTTAGGAGCCACCTG	0.428000													35	71					0	0	1	0	0
TMEM222	84065	broad.mit.edu	37	1	27661930	27661930	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:27661930C>T	ENST00000374076.4	+	6	638	c.600C>T	c.(598-600)acC>acT	p.T200T		NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222	200						integral to membrane	protein binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						TCATCCTCACCGTCAGCCTGG	0.597000													41	130					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76419319	76419319	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:76419319C>T	ENST00000370014.3	+	20	3412	c.2793C>T	c.(2791-2793)gtC>gtT	p.V931V	SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Silent_p.V924V|SENP6_ENST00000447266.2_Silent_p.V931V	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	931	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ATGAACTCGTCGACTTCTCAG	0.343000													18	59					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40937303	40937303	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:40937303C>T	ENST00000246914.5	+	6	1300	c.1279C>T	c.(1279-1281)Ctg>Ttg	p.L427L		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	427	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCAGGACCTCCTGGCCCACGC	0.692000													3	22					0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116859152	116859152	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:116859152C>T	ENST00000265437.5	+	14	1634	c.1420C>T	c.(1420-1422)Cct>Tct	p.P474S	ST7_ENST00000393447.4_Missense_Mutation_p.P431S|ST7_ENST00000393446.2_Intron|ST7_ENST00000393449.1_Missense_Mutation_p.P469S|ST7_ENST00000393451.3_Missense_Mutation_p.P451S|ST7_ENST00000432298.1_Missense_Mutation_p.P428S|ST7_ENST00000393443.1_Missense_Mutation_p.P396S|ST7_ENST00000393444.3_Missense_Mutation_p.P408S|ST7_ENST00000422922.1_Missense_Mutation_p.P405S|ST7_ENST00000323984.3_Missense_Mutation_p.P474S	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	474						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TCGGATGATCCCTTATCCCTT	0.428000													20	280					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124414273	124414273	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:124414273C>T	ENST00000409039.3	+	71	12250	c.12225C>T	c.(12223-12225)atC>atT	p.I4075I	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_3'UTR	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4075					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCCAAGGATCCCGTGGGGCA	0.552000													13	16					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	823199	823199	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:823199T>C	ENST00000293892.3	-	10	2068	c.2069A>G	c.(2068-2070)aAc>aGc	p.N690S	MSLNL_ENST00000442466.1_Missense_Mutation_p.N339S			Q96KJ4	MSLNL_HUMAN	mesothelin-like	339					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGTGTCCAGGTTGGTTCTGAG	0.637000													33	84					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103149105	103149105	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:103149105G>A	ENST00000295269.4	+	12	2812	c.2355G>A	c.(2353-2355)agG>agA	p.R785R		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	785					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GACACGGCAGGGACCATCACA	0.498000													16	31					0	0	1	0	0
CCDC127	133957	broad.mit.edu	37	5	205679	205679	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:205679G>A	ENST00000296824.3	-	3	648	c.516C>T	c.(514-516)atC>atT	p.I172I		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	172										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			GACTGCAGTAGATATTCTGTC	0.517000													16	79					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12120187	12120187	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:12120187C>T	ENST00000379388.2	+	4	491	c.159C>T	c.(157-159)atC>atT	p.I53I		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	53					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCAAAAAGATCGTAGCTGAGA	0.378000													79	190					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97127449	97127449	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr10:97127449G>A	ENST00000371247.2	-	22	2102	c.1913C>T	c.(1912-1914)gCc>gTc	p.A638V	SORBS1_ENST00000607232.1_Missense_Mutation_p.A405V|SORBS1_ENST00000371241.1_Missense_Mutation_p.A344V|SORBS1_ENST00000371245.3_Missense_Mutation_p.A489V|SORBS1_ENST00000347291.4_Missense_Mutation_p.A450V|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371227.4_Missense_Mutation_p.A592V|SORBS1_ENST00000393949.1_Missense_Mutation_p.A608V|SORBS1_ENST00000371246.2_Missense_Mutation_p.A660V|SORBS1_ENST00000371239.1_Missense_Mutation_p.A415V|SORBS1_ENST00000277982.5_Missense_Mutation_p.A660V|SORBS1_ENST00000361941.3_Missense_Mutation_p.A638V|SORBS1_ENST00000354106.3_Missense_Mutation_p.A608V|SORBS1_ENST00000306402.6_Missense_Mutation_p.A385V|SORBS1_ENST00000371249.2_Missense_Mutation_p.A476V|SORBS1_ENST00000353505.5_Missense_Mutation_p.A489V			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	638					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGGGCTGATGGCTGAGCTCTG	0.338000													6	18					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587978	247587978	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:247587978C>T	ENST00000366497.2	+	4	2013	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	NLRP3_ENST00000366496.2_Silent_p.I411I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.I411I|NLRP3_ENST00000336119.3_Silent_p.I411I|NLRP3_ENST00000348069.2_Silent_p.I411I|NLRP3_ENST00000391827.2_Silent_p.I411I	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	411	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGTGCTTCATCCCCCTGGTCT	0.547000													35	85					0	0	1	0	0
MOSPD3	64598	broad.mit.edu	37	7	100212784	100212784	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:100212784C>T	ENST00000393950.2	+	5	968	c.686C>T	c.(685-687)aCc>aTc	p.T229I	MOSPD3_ENST00000424091.2_Missense_Mutation_p.T219I|MOSPD3_ENST00000379527.2_Missense_Mutation_p.T229I|MOSPD3_ENST00000223054.4_Missense_Mutation_p.T229I	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	229						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGCCTCCTCACCATGGTGTTC	0.622000													73	99					0	0	1	0	0
WNT7B	7477	broad.mit.edu	37	22	46327050	46327050	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:46327050G>A	ENST00000339464.4	-	3	872	c.498C>T	c.(496-498)ttC>ttT	p.F166F	WNT7B_ENST00000410089.1_Silent_p.F150F|WNT7B_ENST00000410058.1_Silent_p.F166F|WNT7B_ENST00000409496.3_Silent_p.F170F	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	166					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GAGCGTCCACGAAGCGCCGGG	0.662000													42	105					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84510375	84510375	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chrX:84510375C>T	ENST00000360700.4	+	4	1076	c.190C>T	c.(190-192)Cat>Tat	p.H64Y	ZNF711_ENST00000395402.1_Missense_Mutation_p.H42Y|ZNF711_ENST00000276123.3_Missense_Mutation_p.H64Y|ZNF711_ENST00000373165.3_Missense_Mutation_p.H64Y			Q9Y462	ZN711_HUMAN	zinc finger protein 711	64					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AACTCTTGATCATGGCCTTGC	0.438000													67	52					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48703949	48703949	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:48703949C>T	ENST00000352832.5	+	34	6962	c.6590C>T	c.(6589-6591)cCg>cTg	p.P2197L	CACNA1G_ENST00000358244.5_Missense_Mutation_p.P2118L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P2220L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P2268L|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P2197L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P2313L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P2261L|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P2245L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P2231L|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P2174L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P2141L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P2206L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P2186L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P2234L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P2190L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P2253L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P2224L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P2290L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P2238L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P2208L|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P2179L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P2279L|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P2324L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P2213L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P2152L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2324					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTCGGACCCCGCCCAGCCCT	0.687000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	29					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279710	152279710	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:152279710T>G	ENST00000368799.1	-	3	7687	c.7652A>C	c.(7651-7653)cAg>cCg	p.Q2551P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2551	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGATTGTCCCTGGCCCACCTG	0.587000									Ichthyosis				157	504					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196438179	196438179	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:196438179A>T	ENST00000367433.5	-	6	505	c.404T>A	c.(403-405)aTt>aAt	p.I135N	KCNT2_ENST00000367431.4_Missense_Mutation_p.I135N|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.I135N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	135						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TATTCGTAAAATCTGTTCCCA	0.328000													8	31					0	0	1	0	0
TTC9	23508	broad.mit.edu	37	14	71137803	71137803	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:71137803G>A	ENST00000256367.2	+	3	943	c.600G>A	c.(598-600)gtG>gtA	p.V200V		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	200							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		ACACCAACGTGATTCGGTATA	0.498000													17	39					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49224966	49224966	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr20:49224966C>T	ENST00000327979.2	-	11	1315	c.904G>A	c.(904-906)Gag>Aag	p.E302K	FAM65C_ENST00000045083.2_Missense_Mutation_p.E302K|FAM65C_ENST00000535356.1_Missense_Mutation_p.E306K			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	302										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTACCCAACTCCGTGATGTCC	0.667000													18	216					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46318870	46318870	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:46318870G>A	ENST00000245934.7	-	27	4017	c.3773C>T	c.(3772-3774)cCc>cTc	p.P1258L	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1258					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGCCGGGCTGGGAGTCTTCAT	0.692000													7	20					0	0	1	0	0
CDA	978	broad.mit.edu	37	1	20945011	20945011	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:20945011G>A	ENST00000375071.3	+	4	573	c.391G>A	c.(391-393)Gag>Aag	p.E131K	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	131					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	GACGGTCCAGGAGCTGCTGCC	0.552000													31	57					0	0	1	0	0
TMEM222	84065	broad.mit.edu	37	1	27661929	27661929	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:27661929C>T	ENST00000374076.4	+	6	637	c.599C>T	c.(598-600)aCc>aTc	p.T200I		NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222	200						integral to membrane	protein binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						ATCATCCTCACCGTCAGCCTG	0.602000													43	131					0	0	1	0	0
GALNT9	50614	broad.mit.edu	37	12	132688178	132688178	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:132688178C>T	ENST00000328957.8	-	7	1134	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	GALNT9_ENST00000397325.2_Missense_Mutation_p.E13K|GALNT9_ENST00000535228.1_Missense_Mutation_p.E130K|GALNT9_ENST00000541995.1_Missense_Mutation_p.E13K	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	379	Catalytic subdomain B.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CTGGTGCGCTCGATGTGGGCC	0.657000													34	117					0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34791575	34791575	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:34791575C>T	ENST00000299505.6	+	2	1070	c.197C>T	c.(196-198)gCc>gTc	p.A66V		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	66										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TGCCACCATGCCATGCCCCAC	0.627000													34	87					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67040682	67040682	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:67040682C>T	ENST00000315962.4	+	2	685	c.312C>T	c.(310-312)atC>atT	p.I104I	TRIM55_ENST00000353317.5_Silent_p.I104I|TRIM55_ENST00000276573.7_Silent_p.I104I|TRIM55_ENST00000350034.4_Silent_p.I104I	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	104						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGGAAAATATCATTGACATCT	0.458000													57	86					0	0	1	0	0
RND1	27289	broad.mit.edu	37	12	49258632	49258632	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:49258632C>T	ENST00000309739.5	-	2	272	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	48					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GTGTAATTTTCGAACACGGTG	0.517000													75	153					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156509680	156509680	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:156509680C>T	ENST00000361170.2	-	24	2852	c.2842G>A	c.(2842-2844)Gag>Aag	p.E948K		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	948					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGCCGTTTCTCTTTGCTCAGC	0.493000													15	133					0	0	1	0	0
ZSCAN30	100101467	broad.mit.edu	37	18	32844006	32844006	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr18:32844006A>G	ENST00000420878.3	-	3	766	c.311T>C	c.(310-312)cTg>cCg	p.L104P	ZSCAN30_ENST00000589178.1_Missense_Mutation_p.L104P|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.L104P|ZSCAN30_ENST00000601405.1_Intron|ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000383091.2_Missense_Mutation_p.L104P|ZSCAN30_ENST00000592278.1_Missense_Mutation_p.L104P	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	104	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|lung(3)|urinary_tract(1)	9						CCAAGCTTGCAGCTCCTCAGG	0.567000													4	116					0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36932735	36932735	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr20:36932735C>T	ENST00000262865.4	+	1	211	c.122C>T	c.(121-123)tCc>tTc	p.S41F	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	41					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GTCAGGATCTCCCAGAAGGGC	0.622000													54	76					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171083457	171083457	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:171083457C>T	ENST00000367755.4	+	7	1249	c.1138C>T	c.(1138-1140)Ccc>Tcc	p.P380S	FMO3_ENST00000538429.1_Missense_Mutation_p.P317S|FMO3_ENST00000392085.2_Missense_Mutation_p.P380S|FMO3_ENST00000542847.1_Missense_Mutation_p.P360S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	380					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGCTGCCATTCCCACAGTTGA	0.443000													21	36					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791377	95791377	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr10:95791377G>A	ENST00000260766.3	+	2	1208	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	PLCE1_ENST00000371380.2_Missense_Mutation_p.E192K	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	192					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTTTCATTATGAAGTTGACAG	0.423000													45	67					0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155204988	155204988	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:155204988G>T	ENST00000428024.2	-	9	1744	c.1242C>A	c.(1240-1242)aaC>aaA	p.N414K	GBA_ENST00000327247.5_Missense_Mutation_p.N501K|GBA_ENST00000368373.3_Missense_Mutation_p.N501K|GBA_ENST00000536770.1_Missense_Mutation_p.N388K|GBA_ENST00000427500.2_Missense_Mutation_p.N452K	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	501			V -> L (in GD; mild).		carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GCCCTCACCGGTTTAGCACGA	0.607000									Gaucher disease type I				15	144					1.67942e-08	1.6955e-08	1	1	0
EPHB3	2049	broad.mit.edu	37	3	184295192	184295192	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:184295192C>T	ENST00000330394.2	+	6	1868	c.1416C>T	c.(1414-1416)tcC>tcT	p.S472S	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	472	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCACCCTATCCTGGGCACCCC	0.632000													45	98					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90347591	90347591	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr15:90347591C>T	ENST00000300060.6	-	6	1385	c.1072G>A	c.(1072-1074)Gga>Aga	p.G358R		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	358	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GTCACCAGTCCCCAGTTCTCC	0.617000													34	83					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	31010032	31010032	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:31010032C>T	ENST00000295055.8	-	2	336	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	CAPN13_ENST00000534090.2_Missense_Mutation_p.E54K|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	54	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGGCGTTTTTCCTGGAGCAGC	0.577000													3	14					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148347	34148347	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chrX:34148347C>T	ENST00000346193.3	-	1	2100	c.2049G>A	c.(2047-2049)tcG>tcA	p.S683S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	683								p.S683S(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TATAAGAATTCGATGGCGTGT	0.443000													21	37					0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25625439	25625439	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:25625439C>T	ENST00000398215.2	+	5	514	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	115	Beta/gamma crystallin 'Greek key' 3.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CTATGAAAACCCCAACTTCAC	0.557000													12	32					0	0	1	0	0
VNN3	55350	broad.mit.edu	37	6	133048119	133048119	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:133048119A>T	ENST00000367927.5	-	4	642	c.570T>A	c.(568-570)gaT>gaA	p.D190E	VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000519686.2_Intron|VNN3_ENST00000414302.2_Missense_Mutation_p.I126N|VNN3_ENST00000509351.1_Intron|VNN3_ENST00000423615.2_Intron|VNN3_ENST00000417437.2_Intron|VNN3_ENST00000427187.2_Intron|VNN3_ENST00000450865.2_Intron|VNN3_ENST00000207771.3_Missense_Mutation_p.D190E|VNN3_ENST00000392393.3_Intron|VNN3_ENST00000275223.3_Intron					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		CCTTGGGGAAATCAAACTGAA	0.353000													6	42					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108353762	108353762	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:108353762C>T	ENST00000361582.3	+	10	1091	c.861C>T	c.(859-861)ttC>ttT	p.F287F	DZIP3_ENST00000463306.1_Silent_p.F287F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	287					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTGTTTATTTCCATAAAATTT	0.294000													39	89					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142650984	142650984	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:142650984G>A	ENST00000355265.2	-	9	1458	c.984C>T	c.(982-984)tcC>tcT	p.S328S	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	328					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AAGGGCTCAGGGACATCGGTG	0.532000													91	276					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100263983	100263983	+	RNA	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:100263983G>A	ENST00000515683.1	-	0	1148					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GACTTCAAACGAAAAATCCAC	0.463000													88	299					0	0	1	0	0
FAM110C	642273	broad.mit.edu	37	2	45651	45651	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:45651G>A	ENST00000327669.4	-	1	734	c.735C>T	c.(733-735)acC>acT	p.T245T		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	245						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		GCACCTTGAGGGTCACACAGT	0.687000													17	32					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50216833	50216833	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:50216833G>A	ENST00000216267.8	-	1	1619	c.1133C>T	c.(1132-1134)tCc>tTc	p.S378F	BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000457780.2_Missense_Mutation_p.S378F|BRD1_ENST00000404760.1_Missense_Mutation_p.S378F|BRD1_ENST00000542442.1_Missense_Mutation_p.S17F|BRD1_ENST00000404034.1_Missense_Mutation_p.S378F	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	378					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTTTCTGACGGAGAAGGTGGT	0.542000													33	301					0	0	1	0	0
CMTM8	152189	broad.mit.edu	37	3	32411396	32411396	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:32411396C>T	ENST00000307526.3	+	4	753	c.459C>T	c.(457-459)acC>acT	p.T153T	CMTM8_ENST00000458535.2_Silent_p.T95T	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	153	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TCCTGGTCACCATCTGCTACG	0.363000													43	50					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579626	82579626	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:82579626C>A	ENST00000423517.2	-	6	10615	c.10278G>T	c.(10276-10278)atG>atT	p.M3426I	PCLO_ENST00000437081.1_Missense_Mutation_p.M146I|PCLO_ENST00000333891.8_Missense_Mutation_p.M3426I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3357					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATTTTCTCCCATGTCATCAT	0.413000													27	139					7.41945e-09	7.49847e-09	1	1	0
ZNF525	170958	broad.mit.edu	37	19	53884968	53884968	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:53884968G>A	ENST00000467003.1	+	4	1229	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E	ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000355326.3_Missense_Mutation_p.G97E|ZNF525_ENST00000474037.1_Missense_Mutation_p.G379E|ZNF525_ENST00000593918.1_Intron					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						ACTCATACTGGAGAGAAACCA	0.388000													28	64					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103354435	103354435	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:103354435G>A	ENST00000358392.2	-	60	4858	c.4541C>T	c.(4540-4542)cCt>cTt	p.P1514L	COL11A1_ENST00000353414.4_Missense_Mutation_p.P1463L|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1502L|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1386L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1502	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TAAACCTGGAGGACCAGGTGG	0.393000													30	83					0	0	1	0	0
USF2	7392	broad.mit.edu	37	19	35769649	35769649	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:35769649C>T	ENST00000222305.3	+	8	813	c.776C>T	c.(775-777)tCg>tTg	p.S259L	USF2_ENST00000595068.1_Missense_Mutation_p.S259L|USF2_ENST00000600341.1_3'UTR|USF2_ENST00000594064.1_Missense_Mutation_p.S257L|USF2_ENST00000379134.3_Missense_Mutation_p.S128L|USF2_ENST00000343550.5_Missense_Mutation_p.S192L	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	259	Helix-loop-helix motif.				lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTCCAGCTTTCGAAAATCATT	0.602000													57	261					0	0	1	0	0
AQP9	366	broad.mit.edu	37	15	58465385	58465385	+	Silent	SNP	C	C	G	rs148872883	byFrequency	TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr15:58465385C>G	ENST00000219919.4	+	3	727	c.357C>G	c.(355-357)acC>acG	p.T119T	AQP9_ENST00000536493.1_Silent_p.T119T|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Silent_p.T54T	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	119					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	p.T119T(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GGGCTGCAACCGTCTTTGGCA	0.463000													71	181					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31283578	31283578	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:31283578G>A	ENST00000332585.6	+	4	1377	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T	OSBP2_ENST00000437268.2_Missense_Mutation_p.A167T|OSBP2_ENST00000407373.1_Missense_Mutation_p.A252T|OSBP2_ENST00000535268.1_5'UTR|OSBP2_ENST00000403222.3_Missense_Mutation_p.A260T|OSBP2_ENST00000382310.3_Missense_Mutation_p.A425T|OSBP2_ENST00000401475.1_Missense_Mutation_p.A59T|OSBP2_ENST00000446658.2_Missense_Mutation_p.A425T	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	425					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TGGCCGGCCGGCCAACCCCTC	0.637000													7	24					0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36668569	36668569	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:36668569G>A	ENST00000280527.2	+	3	1041	c.674G>A	c.(673-675)gGa>gAa	p.G225E		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	225					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGCCAGCCGGGAAACCTGAAC	0.582000													47	160					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96599411	96599411	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr13:96599411G>A	ENST00000376747.3	-	15	1627	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	519					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TATTAAGAATGAACACAAAAC	0.333000													50	77					0	0	1	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170333	20170333	+	RNA	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr15:20170333G>A	ENST00000338912.5	-	0	21																											ACCAAAAACAGGATCCTCCAA	0.532000													68	157					0	0	1	0	0
PSMB11	122706	broad.mit.edu	37	14	23511481	23511481	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:23511481G>A	ENST00000408907.2	+	1	106	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	16					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GACACCCAGGGACCATCACCT	0.627000													93	104					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711179	140711179	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:140711179G>A	ENST00000517417.1	+	1	928	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E310K	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTAGATTTCGAAGAATACAA	0.373000													12	51					0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60561522	60561522	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:60561522C>T	ENST00000308287.1	+	5	534	c.438C>T	c.(436-438)ctC>ctT	p.L146L		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	146						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CCAAGGATCTCTTTCTGGAGA	0.512000													55	72					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247729254	247729254	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:247729254C>T	ENST00000366491.2	+	6	598	c.101C>T	c.(100-102)tCt>tTt	p.S34F	GCSAML_ENST00000463359.1_Missense_Mutation_p.S22F|GCSAML_ENST00000366489.1_Missense_Mutation_p.S34F|GCSAML_ENST00000366488.4_Missense_Mutation_p.S54F|GCSAML_ENST00000527541.1_Missense_Mutation_p.S22F|GCSAML_ENST00000527084.1_Missense_Mutation_p.S22F|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000536561.1_Missense_Mutation_p.S34F					germinal center-associated, signaling and motility-like																		TCATCCACTTCTAATCAGGTA	0.308000													21	25					0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44152052	44152052	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr21:44152052C>T	ENST00000291539.6	+	5	495	c.435C>T	c.(433-435)atC>atT	p.I145I	PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000328862.6_Silent_p.I119I|PDE9A_ENST00000398225.3_Silent_p.I104I|PDE9A_ENST00000398232.3_Silent_p.I78I|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000335512.4_Intron|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000470987.1_Intron|PDE9A_ENST00000398227.3_Intron	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	145					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GCCAGCGCATCCCTCCAGGTA	0.632000													16	22					0	0	1	0	0
ZNF230	7773	broad.mit.edu	37	19	44515346	44515346	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:44515346C>T	ENST00000429154.2	+	5	1383	c.1155C>T	c.(1153-1155)gtC>gtT	p.V385V		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	385				QRV -> PEG (in Ref. 1; AAB62180).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				ACCAGAGGGTCCATACTGGAG	0.443000													54	99					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12973167	12973167	+	Splice_Site	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:12973167C>T	ENST00000276297.4	-	6	1758		c.e6-1		DLC1_ENST00000512044.2_Splice_Site|DLC1_ENST00000358919.2_Splice_Site|DLC1_ENST00000520226.1_Splice_Site	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1						actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTTCAATTTCTAGAACAGAA	0.403000													26	28					0	0	1	0	0
CDKL2	8999	broad.mit.edu	37	4	76523295	76523295	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:76523295G>A	ENST00000429927.2	-	8	1689	c.986C>T	c.(985-987)tCc>tTc	p.S329F	CDKL2_ENST00000307465.4_Missense_Mutation_p.S329F	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	329					sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTCAACTAAGGAATCATCTTT	0.259000													14	81					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122001020	122001020	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:122001020G>A	ENST00000498619.1	+	6	2137	c.1699G>A	c.(1699-1701)Ggg>Agg	p.G567R	CASR_ENST00000490131.1_Missense_Mutation_p.G557R|CASR_ENST00000296154.5_Missense_Mutation_p.G557R	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	557					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GATCATTGAGGGGGAGCCCAC	0.577000													68	188					0	0	1	0	0
GABPB2	126626	broad.mit.edu	37	1	151070470	151070470	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:151070470C>T	ENST00000368918.3	+	5	945	c.614C>T	c.(613-615)aCa>aTa	p.T205I	GABPB2_ENST00000368917.1_Missense_Mutation_p.T205I|GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368916.1_Missense_Mutation_p.T205I	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	205					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AACACCAAAACAACCTCAGGT	0.408000													7	94					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29994573	29994573	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:29994573C>T	ENST00000308893.4	+	12	2223	c.1180C>T	c.(1180-1182)Cct>Tct	p.P394S	TAOK2_ENST00000416441.2_Missense_Mutation_p.P221S|TAOK2_ENST00000543033.1_Missense_Mutation_p.P394S|TAOK2_ENST00000279394.3_Missense_Mutation_p.P394S	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	394	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ggaagaAGGCCCTGAAGCCCG	0.617000													28	54					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115361802	115361802	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:115361802G>T	ENST00000357872.4	+	20	3084	c.2960G>T	c.(2959-2961)aGg>aTg	p.R987M	CTD-2287O16.3_ENST00000600981.3_Intron	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		987					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										GCGTGGCTAAGGAGAAACACA	0.398000													8	57					0.000274275	0.000275436	1	1	0
NCAM1	4684	broad.mit.edu	37	11	113103967	113103967	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:113103967C>T	ENST00000316851.7	+	12	1591	c.1591C>T	c.(1591-1593)Ctc>Ttc	p.L531F	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.L540F|NCAM1_ENST00000533760.1_Missense_Mutation_p.L413F	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	541	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GGTGCCCATCCTCAAATACAA	0.532000													11	15					0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44538245	44538245	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr20:44538245G>A	ENST00000477313.1	-	4	989	c.395C>T	c.(394-396)tCc>tTc	p.S132F	PLTP_ENST00000354050.4_Intron|PLTP_ENST00000372420.1_Missense_Mutation_p.S44F|PLTP_ENST00000372431.3_Missense_Mutation_p.S132F|PLTP_ENST00000542937.1_Missense_Mutation_p.S152F|PLTP_ENST00000420868.2_Intron			P55058	PLTP_HUMAN	phospholipid transfer protein	132					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GGGATCCCGGGAGAGCTCCAG	0.592000													64	255					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951779	119951779	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:119951779C>T	ENST00000307142.4	+	4	2045	c.1849C>T	c.(1849-1851)Cct>Tct	p.P617S	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P617S|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P617S	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	617	Pro-rich.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGCTGACTTTCCTGCACCTCC	0.592000													50	134					0	0	1	0	0
OR7A5	26659	broad.mit.edu	37	19	14938302	14938302	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:14938302A>T	ENST00000322301.3	-	2	839	c.752T>A	c.(751-753)tTt>tAt	p.F251Y	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.F251Y			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TGCACCATAAAATAAGGAGAC	0.473000													17	90					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132051905	132051905	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:132051905C>T	ENST00000286355.5	-	1	2767	c.675G>A	c.(673-675)gtG>gtA	p.V225V	ADCY8_ENST00000377928.3_Silent_p.V225V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	225					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)			GGGCGCAGATCACTACCTCAA	0.622000										HNSCC(32;0.087)			27	38					0	0	1	0	0
TRH	7200	broad.mit.edu	37	3	129694684	129694684	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:129694684G>A	ENST00000302649.3	+	2	552	c.25G>A	c.(25-27)Gct>Act	p.A9T	TRH_ENST00000507066.1_Missense_Mutation_p.A9T	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	9					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						GTTGCTGCTCGCTCTGGCTTT	0.697000													20	27					0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180424481	180424481	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:180424481G>A	ENST00000342868.6	+	3	850	c.666G>A	c.(664-666)ttG>ttA	p.L222L		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	222					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CCAAGGTATTGATAGGAGGTG	0.493000													10	20					0	0	1	0	0
C17orf98	388381	broad.mit.edu	37	17	36997544	36997544	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:36997544C>T	ENST00000398575.4	-	1	164	c.99G>A	c.(97-99)agG>agA	p.R33R		NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN	chromosome 17 open reading frame 98	33										endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						ACAGCTTGGGCCTAGAGCGCC	0.627000													35	100					0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107289308	107289308	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:107289308G>A	ENST00000277216.3	-	1	182	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGCCCAGGAAGAAGTACATGG	0.418000													41	117					0	0	1	0	0
TNNI3	7137	broad.mit.edu	37	19	55663286	55663286	+	Splice_Site	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:55663286C>T	ENST00000344887.5	-	8	692		c.e8-1		TNNI3_ENST00000588882.1_Splice_Site	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)						cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCCGGTTTTCCTGGAGGATGG	0.562000													4	70					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139263157	139263157	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:139263157C>T	ENST00000395297.1	-	6	639	c.469G>A	c.(469-471)Gac>Aac	p.D157N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	157										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGAAATAGTCGAACATGACC	0.592000										HNSCC(54;0.14)			72	182					0	0	1	0	0
ZNF165	7718	broad.mit.edu	37	6	28053558	28053558	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:28053558C>T	ENST00000377325.1	+	2	856	c.300C>T	c.(298-300)atC>atT	p.I100I		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	100	SCAN box.				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCTGACCATCCTGCCAGGAG	0.537000													22	77					0	0	1	0	0
HEXB	3074	broad.mit.edu	37	5	74016474	74016474	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:74016474G>A	ENST00000511181.1	+	13	1752	c.840G>A	c.(838-840)cgG>cgA	p.R280R	HEXB_ENST00000261416.7_Silent_p.R505R|HEXB_ENST00000509579.1_5'UTR|HEXB_ENST00000513539.1_3'UTR			P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	505					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TTAGGCCTCGGGCAAGTGCTG	0.458000													11	57					0	0	1	0	0
CHCHD3	54927	broad.mit.edu	37	7	132481316	132481316	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:132481316A>T	ENST00000262570.5	-	7	691	c.547T>A	c.(547-549)Tgt>Agt	p.C183S	CHCHD3_ENST00000476546.1_5'UTR|CHCHD3_ENST00000448878.1_Missense_Mutation_p.C188S	NM_017812.2	NP_060282.1	Q9NX63	CHCH3_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	183	CHCH.				inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						AGATCAGCACAGACTGGATGA	0.458000													21	84					0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203407041	203407041	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:203407041C>T	ENST00000374580.4	+	10	1823	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	BMPR2_ENST00000374574.2_Silent_p.S428S	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	428	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CAGGGGAATCCGTACCAGAGT	0.393000													31	61					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106824097	106824097	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:106824097C>T	ENST00000228347.4	+	14	1532	c.1310C>T	c.(1309-1311)aCc>aTc	p.T437I	POLR3B_ENST00000539066.1_Missense_Mutation_p.T379I	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	437					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CAGGGTGTAACCCAAGTGCTG	0.438000													87	177					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41181595	41181595	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:41181595C>T	ENST00000263413.3	-	7	1057	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	C6_ENST00000337836.5_Missense_Mutation_p.E265K|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	265	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.E265*(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGTTGATTTTCATTGTGTCCA	0.343000													16	55					0	0	1	0	0
PRRX1	5396	broad.mit.edu	37	1	170695443	170695443	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:170695443C>T	ENST00000239461.6	+	3	813	c.500C>T	c.(499-501)tCc>tTc	p.S167F	PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000367760.3_Missense_Mutation_p.S167F|PRRX1_ENST00000497230.2_Missense_Mutation_p.S167F	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	167						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCCTCAAATCCTACTCAGGA	0.552000													15	77					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117075198	117075198	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr10:117075198C>T	ENST00000355044.3	+	18	3115	c.2989C>T	c.(2989-2991)Ctt>Ttt	p.L997F	ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Missense_Mutation_p.L94F	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	997	PSI 5.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGACACCAATCTTTGCCCCAA	0.408000													54	76					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133041176	133041176	+	Silent	SNP	T	T	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:133041176T>C	ENST00000253861.4	+	6	885	c.856T>C	c.(856-858)Ttg>Ctg	p.L286L	EXOC4_ENST00000393161.2_Silent_p.L286L|EXOC4_ENST00000539845.1_Silent_p.L185L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	286					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CATTAAGGGCTTGGCGAAACT	0.448000													28	145					0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49967936	49967936	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:49967936C>T	ENST00000293350.4	+	12	1648	c.1485C>T	c.(1483-1485)tcC>tcT	p.S495S	ALDH16A1_ENST00000540132.1_Silent_p.S332S|ALDH16A1_ENST00000433981.2_Silent_p.S330S|ALDH16A1_ENST00000455361.2_Silent_p.S444S|CTD-3148I10.9_ENST00000599536.1_3'UTR	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	495							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCCGGCTGTCCTGCCTCTCCA	0.642000													117	239					0	0	1	0	0
TMIGD1	388364	broad.mit.edu	37	17	28652084	28652084	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:28652084G>A	ENST00000328886.4	-	4	462	c.390C>T	c.(388-390)ttC>ttT	p.F130F	TMIGD1_ENST00000538566.2_Silent_p.F130F	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	130	Ig-like C2-type 2.					integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						CAACTGTTTGGAAGTCGTTTC	0.418000													21	148					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104123926	104123926	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:104123926C>T	ENST00000388887.2	+	49	5319	c.5115C>T	c.(5113-5115)atC>atT	p.I1705I		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1705	FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGGCTAAGATCATATCCAGTG	0.343000													43	169					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5498608	5498608	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr10:5498608T>A	ENST00000355029.4	+	12	1584	c.1442T>A	c.(1441-1443)cTg>cAg	p.L481Q	NET1_ENST00000380359.3_Missense_Mutation_p.L427Q|NET1_ENST00000542715.1_Missense_Mutation_p.L300Q	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	481	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						TCTCACACTCTGCAAGCCAAT	0.473000													75	112					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21235463	21235463	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:21235463A>T	ENST00000233242.1	-	26	4404	c.4277T>A	c.(4276-4278)cTa>cAa	p.L1426Q		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1426					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTGTGGCGTAGAGACCCATC	0.338000													21	96					0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133070914	133070914	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:133070914G>A	ENST00000326499.6	-	6	1415	c.1291C>T	c.(1291-1293)Ctc>Ttc	p.L431F	VNN2_ENST00000525289.1_Missense_Mutation_p.L210F|VNN2_ENST00000525270.1_Missense_Mutation_p.L378F	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	431					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GTGCCACTGAGGGAGAACATT	0.403000													12	52					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129370447	129370447	+	Silent	SNP	G	G	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:129370447G>C	ENST00000393238.3	-	6	2179	c.1839C>G	c.(1837-1839)ccC>ccG	p.P613P	TMCC1_ENST00000329333.5_Silent_p.P434P|TMCC1_ENST00000432054.2_Silent_p.P289P|TMCC1_ENST00000426664.2_Silent_p.P499P	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	613						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TCTTCATGAGGGGGACCACAC	0.517000													5	203					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33905547	33905547	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr15:33905547C>T	ENST00000389232.4	+	19	2398	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F	RYR3_ENST00000415757.3_Silent_p.F776F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	776	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGCTCTTCTTCCCTGTGATGA	0.557000													9	53					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				61	93					0	0	1	0	0
IGHA1	3493	broad.mit.edu	37	14	106174431	106174431	+	RNA	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:106174431G>A	ENST00000390547.2	-	0	357																											CAGCATgagggagatggggta	0.612000													5	20					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156741465	156741465	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:156741465G>A	ENST00000347377.6	+	12	1655	c.1224G>A	c.(1222-1224)atG>atA	p.M408I	CYFIP2_ENST00000521420.1_Missense_Mutation_p.M382I|CYFIP2_ENST00000435847.2_Missense_Mutation_p.M82I|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.M408I|CYFIP2_ENST00000377576.3_Missense_Mutation_p.M408I|CYFIP2_ENST00000541131.1_Missense_Mutation_p.M333I|CYFIP2_ENST00000522463.1_Missense_Mutation_p.M212I	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	408					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCACGTCATGGAGGTGGTAG	0.562000													10	60					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154889936	154889936	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:154889936G>A	ENST00000460393.1	+	21	2131	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K	MME-AS1_ENST00000484721.1_RNA|MME_ENST00000493237.1_Missense_Mutation_p.E671K|MME_ENST00000360490.2_Missense_Mutation_p.E671K|MME_ENST00000492661.1_Missense_Mutation_p.E671K|MME_ENST00000462745.1_Missense_Mutation_p.E671K	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	671					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AAAGAATGGCGAAGAAAAATT	0.284000													27	62					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10403317	10403317	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:10403317C>T	ENST00000377086.1	+	34	3862	c.3660C>T	c.(3658-3660)ttC>ttT	p.F1220F	KIF1B_ENST00000263934.6_Silent_p.F1174F|KIF1B_ENST00000377081.1_Silent_p.F1220F			O60333	KIF1B_HUMAN	kinesin family member 1B	1220					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCCGATTCTTCCCTCCACCCA	0.448000													6	70					0	0	1	0	0
IFT81	28981	broad.mit.edu	37	12	110641706	110641706	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:110641706A>T	ENST00000242591.5	+	15	2101	c.1595A>T	c.(1594-1596)tAt>tTt	p.Y532F	IFT81_ENST00000552912.1_Missense_Mutation_p.Y532F	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	532					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						aaatcccagtatgatagctgt	0.378000													22	51					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49229976	49229976	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:49229976G>A	ENST00000308025.3	-	11	1389	c.1310C>T	c.(1309-1311)aCt>aTt	p.T437I		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	437	Helicase ATP-binding.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GCCACTGCCAGTCTCAGCCAC	0.522000													77	175					0	0	1	0	0
ZNF384	171017	broad.mit.edu	37	12	6782468	6782468	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:6782468G>A	ENST00000396795.1	-	6	1322	c.825C>T	c.(823-825)atC>atT	p.I275I	ZNF384_ENST00000396799.2_Silent_p.I275I|ZNF384_ENST00000361959.3_Silent_p.I275I|ZNF384_ENST00000355772.4_Silent_p.I220I|ZNF384_ENST00000319770.3_Silent_p.I259I|ZNF384_ENST00000396801.3_Silent_p.I275I			Q8TF68	ZN384_HUMAN	zinc finger protein 384	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						AGTGTATACGGATGTGCTGGG	0.557000			T	"""EWSR1, TAF15 """	ALL								24	44					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154626166	154626166	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:154626166C>T	ENST00000260010.6	+	1	3515	c.2107C>T	c.(2107-2109)Ctt>Ttt	p.L703F		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	703	TIR.				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TGTCTTTGTGCTTTCTGAAAA	0.408000													71	115					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120884255	120884255	+	Splice_Site	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:120884255G>A	ENST00000310396.5	+	18	2640		c.e18-1		CPED1_ENST00000423795.1_Splice_Site|CPED1_ENST00000450913.2_Splice_Site	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		ATCTATTCCAGGCCAGTGGAT	0.433000													42	140					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52540858	52540858	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:52540858A>T	ENST00000321725.6	+	18	2057	c.1981A>T	c.(1981-1983)Att>Ttt	p.I661F		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	661					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCAGCACAAGATTGTGGCGGT	0.642000													34	43					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7302200	7302200	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:7302200C>T	ENST00000537408.1	+	13	2730	c.2192C>T	c.(2191-2193)cCc>cTc	p.P731L	CLSTN3_ENST00000266546.6_Missense_Mutation_p.P719L			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	719					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GACCTGGATCCCGAGCGGGAA	0.577000													28	61					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140168101	140168101	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:140168101C>T	ENST00000504120.2	+	1	2226	c.2226C>T	c.(2224-2226)tcC>tcT	p.S742S	PCDHA1_ENST00000378133.3_Silent_p.S742S|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGTGCTCCAGCGCGTTGG	0.672000													13	62					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140967099	140967099	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chrX:140967099G>A	ENST00000298296.1	+	3	397	c.397G>A	c.(397-399)Gag>Aag	p.E133K		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	133										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCCACTCAACGAGAAGAGAAC	0.542000													4	4					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450931	105450931	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chrX:105450931G>A	ENST00000337685.2	+	5	2291	c.1506G>A	c.(1504-1506)agG>agA	p.R502R	MUM1L1_ENST00000372552.1_Silent_p.R502R|MUM1L1_ENST00000357175.2_Silent_p.R502R	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	502										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACCCAGTTAGGAAAGAAACAA	0.403000													17	17					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967294	41967294	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:41967294C>T	ENST00000298919.7	+	10	2321	c.1933C>T	c.(1933-1935)Ccc>Tcc	p.P645S	PDZRN4_ENST00000539469.2_Missense_Mutation_p.P647S|PDZRN4_ENST00000402685.2_Missense_Mutation_p.P905S			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	905							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CACAAAGAGACCCGTGCGAGA	0.512000													24	193					0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24229062	24229062	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chrX:24229062A>T	ENST00000379177.1	+	11	2414	c.1987A>T	c.(1987-1989)Aag>Tag	p.K663*	ZFX_ENST00000540034.1_Nonsense_Mutation_p.K702*|ZFX_ENST00000539115.1_Nonsense_Mutation_p.K434*|ZFX_ENST00000379188.3_Nonsense_Mutation_p.K663*|ZFX_ENST00000304543.5_Nonsense_Mutation_p.K663*|ZFX_ENST00000338565.3_Nonsense_Mutation_p.K613*	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CTACCCCCATAAGTGTGACAT	0.438000													34	47					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43815813	43815813	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr15:43815813G>A	ENST00000382031.1	+	5	2887	c.2856G>A	c.(2854-2856)gaG>gaA	p.E952E	MAP1A_ENST00000300231.5_Silent_p.E714E|MAP1A_ENST00000399453.1_Silent_p.E714E			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	714						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTGAGAAGGAGACCTCGTTAT	0.547000													13	60					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480770	57480770	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:57480770C>T	ENST00000371236.2	-	12	1493	c.1230G>A	c.(1228-1230)atG>atA	p.M410I	DAB1_ENST00000439789.2_Missense_Mutation_p.M324I|DAB1_ENST00000371231.1_Missense_Mutation_p.M443I|DAB1_ENST00000420954.2_Missense_Mutation_p.M408I|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Missense_Mutation_p.M392I|DAB1_ENST00000371234.4_Missense_Mutation_p.M410I			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	443					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TTTCTTTGCCCATTTTCTGCC	0.612000													34	71					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569015	179569015	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:179569015G>A	ENST00000589042.1	-	106	30306	c.30082C>T	c.(30082-30084)Ctt>Ttt	p.L10028F	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L8784F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L9711F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9711	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGGTTTAAGGATTCTGCCA	0.423000													51	116					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104172287	104172287	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr10:104172287C>T	ENST00000020673.5	-	6	2125	c.1599G>A	c.(1597-1599)ctG>ctA	p.L533L	PSD_ENST00000406432.1_Silent_p.L533L	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	533	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CTGTGCTGTCCAGCTCTGAGT	0.647000													17	23					0	0	1	0	0
C2orf66	401027	broad.mit.edu	37	2	197674109	197674109	+	Translation_Start_Site	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:197674109C>T	ENST00000342506.2	-	1	891	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_213608.2	NP_998773.1	Q6UXQ4	CB066_HUMAN	chromosome 2 open reading frame 66	1						extracellular region				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						TGTCAATGATCATTGAGAGAG	0.478000													17	113					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649280	47649280	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:47649280G>A	ENST00000398742.2	+	5	830	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	GPR111_ENST00000296862.1_Missense_Mutation_p.E329K|GPR111_ENST00000507065.1_Missense_Mutation_p.E261K			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	329					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CAGCAGAGATGAACTTCGGAA	0.398000													67	146					0	0	1	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800002	74800002	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:74800002C>T	ENST00000305159.3	-	1	797	c.757G>A	c.(757-759)Gtg>Atg	p.V253M		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TAGGTGCCCACGACCAGAAGG	0.542000													37	38					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938261	2938261	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:2938261C>T	ENST00000378404.2	+	1	216	c.11C>T	c.(10-12)cCg>cTg	p.P4L		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	4						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		ATGTTTAATCCGCACGCTTTA	0.567000													29	105					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756286	94756286	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:94756286C>T	ENST00000554723.1	-	2	1183	c.765G>A	c.(763-765)ggG>ggA	p.G255G	SERPINA10_ENST00000261994.4_Silent_p.G215G|SERPINA10_ENST00000554173.1_Silent_p.G215G|SERPINA10_ENST00000393096.1_Silent_p.G215G			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	215					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.G215G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGGGAATTTTCCCCCGAGTCT	0.388000													31	51					0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178848039	178848039	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:178848039A>C	ENST00000367635.3	+	10	1086	c.748A>C	c.(748-750)Att>Ctt	p.I250L	RALGPS2_ENST00000324778.4_Missense_Mutation_p.I215L|RALGPS2_ENST00000367634.2_Missense_Mutation_p.I250L|RALGPS2_ENST00000477383.1_3'UTR	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	250	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTGCCTAGATATTCCCATGTT	0.308000													9	42					0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42636553	42636553	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:42636553G>A	ENST00000389341.5	-	1	77	c.11C>T	c.(10-12)tCc>tTc	p.S4F	POU2F2_ENST00000560558.1_Missense_Mutation_p.S4F|POU2F2_ENST00000529952.1_Missense_Mutation_p.S4F|POU2F2_ENST00000560398.1_Missense_Mutation_p.S4F|POU2F2_ENST00000529067.1_Missense_Mutation_p.S4F|POU2F2_ENST00000526816.2_Missense_Mutation_p.S4F|POU2F2_ENST00000533720.1_Missense_Mutation_p.S4F|POU2F2_ENST00000524801.2_Intron|POU2F2_ENST00000342301.4_Missense_Mutation_p.S4F	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	4					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				CCCCATGCTGGAGTGAACCAT	0.667000													11	39					0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53457201	53457201	+	Splice_Site	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:53457201G>A	ENST00000314250.6	+	27	4351	c.4061_splice	c.e27+1	p.R1354_splice	TENC1_ENST00000451358.1_Splice_Site_p.R1344_splice|TENC1_ENST00000379902.3_Splice_Site_p.R1230_splice|TENC1_ENST00000546602.1_Splice_Site_p.R1257_splice|TENC1_ENST00000314276.3_Splice_Site_p.R1364_splice|TENC1_ENST00000552570.1_Splice_Site_p.R1352_splice|TENC1_ENST00000549700.1_Splice_Site_p.R1289_splice	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1354					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CAAGACCGGAGGTGACTCTCC	0.632000													57	117					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196883754	196883754	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:196883754C>T	ENST00000367416.2	+	8	1444	c.1307C>T	c.(1306-1308)tCc>tTc	p.S436F	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.S190F|CFHR4_ENST00000367418.1_Missense_Mutation_p.S190F	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						ACCACAGGTTCCATAGTGTGT	0.368000													27	70					0	0	1	0	0
KDM7A	80853	broad.mit.edu	37	7	139796474	139796474	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:139796474C>T	ENST00000397560.2	-	17	2352	c.2255G>A	c.(2254-2256)aGg>aAg	p.R752K	JHDM1D_ENST00000006967.5_Missense_Mutation_p.R752K	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		752					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTGTATTTGCCTTTGTAAACA	0.488000													95	89					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24775972	24775972	+	Silent	SNP	T	T	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:24775972T>G	ENST00000221166.5	+	3	3386	c.2604T>G	c.(2602-2604)ggT>ggG	p.G868G	NEFM_ENST00000437366.2_Silent_p.G829G|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Silent_p.G650G|NEFM_ENST00000433454.2_Silent_p.G492G			P07197	NFM_HUMAN	neurofilament, medium polypeptide	868	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGGGAGATGGTGCTACCAAAT	0.433000													46	69					0	0	1	0	0
MYOZ2	51778	broad.mit.edu	37	4	120072152	120072152	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:120072152T>A	ENST00000307128.5	+	3	415	c.202T>A	c.(202-204)Tac>Aac	p.Y68N		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	68							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						ATCTGACAAATACACATTTGA	0.368000													37	76					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160753430	160753430	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:160753430G>A	ENST00000274547.2	-	10	1353	c.1136C>T	c.(1135-1137)aCt>aTt	p.T379I	GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000520240.1_Intron|GABRB2_ENST00000393959.1_Missense_Mutation_p.T379I|GABRB2_ENST00000353437.6_Intron|GABRB2_ENST00000517547.1_Intron	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	379					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	gaggtttccagtagggtccca	0.368000													28	79					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25374621	25374621	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr13:25374621C>T	ENST00000255324.5	+	13	1759	c.1707C>T	c.(1705-1707)atC>atT	p.I569I	RNF17_ENST00000381921.1_Silent_p.I569I|RNF17_ENST00000255325.5_Silent_p.I570I	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	569					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TAAAAGACATCCAGCCATTAG	0.358000													19	68					0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138653389	138653389	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:138653389G>A	ENST00000394800.2	+	11	1836	c.1287G>A	c.(1285-1287)ctG>ctA	p.L429L	MATR3_ENST00000502929.1_Silent_p.L429L|MATR3_ENST00000361059.2_Silent_p.L429L|MATR3_ENST00000504203.1_Silent_p.L91L|MATR3_ENST00000394805.3_Silent_p.L429L|MATR3_ENST00000510056.1_Silent_p.L429L|MATR3_ENST00000509990.1_Silent_p.L429L|MATR3_ENST00000503811.1_Silent_p.L141L|MATR3_ENST00000502499.1_Silent_p.L91L			P43243	MATR3_HUMAN	matrin 3	429	RRM 1.					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAAATCATCTGATTCTAAATA	0.303000													5	24					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95945693	95945693	+	Missense_Mutation	SNP	G	G	A	rs144977181		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:95945693G>A	ENST00000317620.9	+	11	1508	c.1375G>A	c.(1375-1377)Gac>Aac	p.D459N	PROM2_ENST00000317668.4_Missense_Mutation_p.D459N|PROM2_ENST00000542147.1_Missense_Mutation_p.D459N|PROM2_ENST00000403131.2_Missense_Mutation_p.D459N	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	459						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TGCCAGGGACGACCCCAGCCA	0.647000													23	67					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149449540	149449540	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:149449540T>A	ENST00000286301.3	-	10	1697	c.1406A>T	c.(1405-1407)cAg>cTg	p.Q469L		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	469	Ig-like C2-type 5.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CAGCAGGCTCTGCACCGTCAC	0.587000													22	92					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13727678	13727678	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:13727678G>A	ENST00000265104.4	-	70	12075	c.11971C>T	c.(11971-11973)Ctt>Ttt	p.L3991F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3991					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGCAGTCAAGAGATTTATCA	0.383000									Kartagener syndrome				10	63					0	0	1	0	0
PLD3	23646	broad.mit.edu	37	19	40872586	40872586	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:40872586G>A	ENST00000409587.1	+	4	494	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	PLD3_ENST00000409419.1_Missense_Mutation_p.E33K|PLD3_ENST00000409735.4_Missense_Mutation_p.E33K|PLD3_ENST00000409281.1_Missense_Mutation_p.E33K|PLD3_ENST00000356508.5_Missense_Mutation_p.E33K			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	33					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GAAGGCTGCGGAAAAGGTAGG	0.647000													20	97					0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3487533	3487533	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:3487533C>T	ENST00000301744.4	-	4	401	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						GGCTTGCCTTCCTCTCCTGTT	0.423000													14	72					0	0	1	0	0
MRC1	4360	broad.mit.edu	37	10	17891694	17891694	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr10:17891694G>A	ENST00000331429.2	+	7	1278	c.1175G>A	c.(1174-1176)aGg>aAg	p.R392K	MRC1L1_ENST00000457317.1_Missense_Mutation_p.R392K																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ACCACCTGCAGGAAGGAAGGC	0.463000													32	104					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49303951	49303951	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr15:49303951G>A	ENST00000559471.1	-	13	2104	c.1841C>T	c.(1840-1842)cCa>cTa	p.P614L	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.P569L	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	614										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AATCTCCTGTGGCAAGTCATC	0.418000													36	61					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25543412	25543412	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr18:25543412C>T	ENST00000269141.3	-	15	2846	c.2423G>A	c.(2422-2424)cGa>cAa	p.R808Q	AC015933.2_ENST00000423367.1_RNA|CDH2_ENST00000399380.3_Missense_Mutation_p.R777Q	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	808					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.R808Q(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTCATCCATTCGTCGGATTCC	0.532000													22	64					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30099986	30099986	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:30099986G>A	ENST00000331968.5	-	10	1863	c.1634C>T	c.(1633-1635)cCc>cTc	p.P545L	PRKD1_ENST00000415220.2_Missense_Mutation_p.P553L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	545					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGAGCCCTTGGGAATGACGGG	0.532000													43	70					0	0	1	0	0
HNRNPDL	9987	broad.mit.edu	37	4	83349429	83349429	+	Splice_Site	SNP	A	A	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:83349429A>C	ENST00000295470.5	-	2	788		c.e2+1		HNRNPDL_ENST00000502762.1_Splice_Site|HNRNPDL_ENST00000514511.1_Intron|HNRNPDL_ENST00000349655.4_Splice_Site|HNRNPDL_ENST00000602300.1_Splice_Site	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1			heterogeneous nuclear ribonucleoprotein D-like																		CATAGTTCCTACCTTATCAAC	0.388000													36	99					0	0	1	0	0
SLC1A1	6505	broad.mit.edu	37	9	4567723	4567723	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:4567723A>T	ENST00000262352.3	+	6	774	c.538A>T	c.(538-540)Aca>Tca	p.T180S		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	180					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	GATGAACATGACAGAAGAGTC	0.433000													7	37					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541139	178541139	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:178541139G>A	ENST00000251582.7	-	22	3466	c.3365C>T	c.(3364-3366)aCc>aTc	p.T1122I		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1122					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CACTGGGAGGGTAGGCATGAA	0.587000													19	95					0	0	1	0	0
MKNK2	2872	broad.mit.edu	37	19	2037813	2037813	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:2037813G>A	ENST00000309340.7	-	14	1394	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	MKNK2_ENST00000591601.1_3'UTR|MKNK2_ENST00000591142.1_Silent_p.F134F|MKNK2_ENST00000250896.3_3'UTR	NM_017572.3	NP_060042.2	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	0					cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|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)		GAGGGAGGAGGAAGTGACTGT	0.547000													4	21					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119134553	119134553	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:119134553G>A	ENST00000264245.4	+	12	4309	c.3777G>A	c.(3775-3777)aaG>aaA	p.K1259K		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1259					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AAAGCTCAAAGGAAGAAAAAC	0.552000													25	42					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321383	56321383	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:56321383C>T	ENST00000443188.1	-	5	1303	c.593G>A	c.(592-594)aGc>aAc	p.S198N	NLRP11_ENST00000589824.2_Missense_Mutation_p.S198N|NLRP11_ENST00000592953.1_Missense_Mutation_p.S99N|NLRP11_ENST00000360133.3_Missense_Mutation_p.S198N|NLRP11_ENST00000589093.1_Missense_Mutation_p.S198N	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	198	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTCAGCCAAGCTGCTGTTGGT	0.527000													27	53					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53624248	53624248	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr13:53624248C>T	ENST00000219022.2	+	5	953	c.875C>T	c.(874-876)cCa>cTa	p.P292L		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	292	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TGGGTGGCGCCATTGAATACA	0.443000													37	51					0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77112897	77112897	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:77112897G>A	ENST00000376896.2	+	1	617	c.5G>A	c.(4-6)cGa>cAa	p.R2Q	RP11-171A24.3_ENST00000417576.2_RNA	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	0					eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CACACCATGCGAGGTAAGCGA	0.652000													5	30					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7632474	7632474	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:7632474C>T	ENST00000359156.4	-	16	3664	c.3462G>A	c.(3460-3462)ggG>ggA	p.G1154G	CD163_ENST00000432237.2_3'UTR|CD163_ENST00000396620.3_3'UTR|CD163_ENST00000541972.1_3'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1154					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GTTATAAATTCCCATTTTCCT	0.393000													22	74					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78032415	78032415	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:78032415G>A	ENST00000397545.4	+	8	1309	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K	CCDC40_ENST00000374877.3_Missense_Mutation_p.E428K|CCDC40_ENST00000374876.4_Missense_Mutation_p.E428K|CCDC40_ENST00000269318.5_Missense_Mutation_p.E428K	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	428					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGCCGAGACGGAGAGGATCCG	0.507000													24	57					0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36889817	36889817	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:36889817G>A	ENST00000397224.4	-	8	1751	c.1658C>T	c.(1657-1659)cCc>cTc	p.P553L	FOXRED2_ENST00000216187.6_Missense_Mutation_p.P553L|FOXRED2_ENST00000397223.4_Missense_Mutation_p.P553L|FOXRED2_ENST00000366463.3_Missense_Mutation_p.P105L	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	553					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCGAGGCAGGGGCCAGTGTGC	0.642000													22	64					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10908843	10908843	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr21:10908843G>A	ENST00000298232.7	-	22	1815	c.1448C>T	c.(1447-1449)tCt>tTt	p.S483F	TPTE_ENST00000342420.5_Missense_Mutation_p.S463F|TPTE_ENST00000361285.4_Missense_Mutation_p.S501F|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	501	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S501F(1)|p.S483F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		TTCAATAAAAGATGTGTGCAA	0.299000													13	62					0	0	1	0	0
CFAP221	200373	broad.mit.edu	37	2	120395918	120395918	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:120395918C>T	ENST00000602047.1	+	21	2312	c.1200C>T	c.(1198-1200)ccC>ccT	p.P400P	PCDP1_ENST00000413369.3_Silent_p.P686P			Q4G0U5	PCDP1_HUMAN		686						cilium	calmodulin binding					Colorectal(110;0.196)					GCTCTCACCCCAAGTACAAAT	0.488000													29	157					0	0	1	0	0
TUBAL3	79861	broad.mit.edu	37	10	5435701	5435701	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr10:5435701C>T	ENST00000380419.3	-	4	1157	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	TUBAL3_ENST00000479328.1_Missense_Mutation_p.D334N	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	374					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						TTGGCCAGGTCCCCACCCGGC	0.592000													30	31					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60884836	60884836	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr20:60884836G>A	ENST00000252999.3	-	79	10950	c.10884C>T	c.(10882-10884)acC>acT	p.T3628T		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3628	Laminin G-like 5.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGGGCCCACGGTGTGGTTGC	0.677000													17	63					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2436581	2436581	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:2436581C>T	ENST00000452833.1	-	9	1263	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	TRPM5_ENST00000528453.1_Missense_Mutation_p.E417K|TRPM5_ENST00000533060.1_Missense_Mutation_p.E417K|TRPM5_ENST00000155858.6_Missense_Mutation_p.E417K			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	417						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CGGTAGAGCTCCTGCAGCCGC	0.662000													13	14					0	0	1	0	0
BLVRA	644	broad.mit.edu	37	7	43827525	43827525	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:43827525T>C	ENST00000402924.1	+	4	198	c.35T>C	c.(34-36)gTg>gCg	p.V12A	BLVRA_ENST00000265523.4_Missense_Mutation_p.V12A	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	12	Poly-Val.				heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	TTTGGCGTGGTGGTGGTTGGT	0.562000													50	127					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1807569	1807569	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:1807569G>C	ENST00000340107.4	+	13	2000	c.1744G>C	c.(1744-1746)Gac>Cac	p.D582H	FGFR3_ENST00000412135.2_Missense_Mutation_p.D468H|FGFR3_ENST00000440486.2_Missense_Mutation_p.D580H|FGFR3_ENST00000260795.2_Missense_Mutation_p.D580H|FGFR3_ENST00000352904.1_Missense_Mutation_p.D468H|FGFR3_ENST00000481110.2_Missense_Mutation_p.D581H	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	580	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CTACTCCTTCGACACCTGCAA	0.677000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				29	232					0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31484557	31484557	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:31484557G>A	ENST00000333137.7	+	4	477	c.259G>A	c.(259-261)Gag>Aag	p.E87K	SMTN_ENST00000475548.1_3'UTR|SMTN_ENST00000347557.2_Missense_Mutation_p.E87K|SMTN_ENST00000358743.1_Missense_Mutation_p.E87K	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	87					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						AGGGCAGCTGGAGTCCATGAA	0.637000													61	115					0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55759766	55759766	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:55759766G>A	ENST00000343399.3	+	1	872	c.872G>A	c.(871-873)aGa>aAa	p.R291K		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TACACACTGAGAAATAAGCAA	0.393000													27	71					0	0	1	0	0
CRYL1	51084	broad.mit.edu	37	13	21006353	21006353	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr13:21006353G>A	ENST00000382812.1	-	6	683	c.455C>T	c.(454-456)gCc>gTc	p.A152V	CRYL1_ENST00000298248.7_Missense_Mutation_p.A174V|CRYL1_ENST00000480748.1_5'UTR			Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	174					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		CTTCATCAGGGCGTGGGTTCT	0.587000													27	47					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201046051	201046051	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:201046051G>A	ENST00000362061.3	-	12	2050	c.1824C>T	c.(1822-1824)ttC>ttT	p.F608F	CACNA1S_ENST00000367338.3_Silent_p.F608F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	608					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	agcctacctggaagacgctga	0.542000													28	117					0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159181711	159181711	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:159181711G>A	ENST00000297239.9	+	14	1542	c.1348G>A	c.(1348-1350)Gag>Aag	p.E450K	SYTL3_ENST00000360448.3_Missense_Mutation_p.E382K|SYTL3_ENST00000367081.3_Missense_Mutation_p.E176K			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	450					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		GAGTAATGGAGAGCTCACAGT	0.552000													41	126					0	0	1	0	0
STK40	83931	broad.mit.edu	37	1	36809543	36809543	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:36809543G>A	ENST00000359297.2	-	8	929	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	STK40_ENST00000373132.3_Missense_Mutation_p.R308W|STK40_ENST00000373130.3_Missense_Mutation_p.R313W|STK40_ENST00000373129.3_Missense_Mutation_p.R308W			Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	308	Protein kinase.					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)				AGCAGCTTCCGGATGAGACAC	0.637000													17	49					0	0	1	0	0
DPEP2	64174	broad.mit.edu	37	16	68026971	68026971	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:68026971G>A	ENST00000412757.2	-	3	810	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S	DPEP2_ENST00000393847.1_Missense_Mutation_p.P49S|DPEP2_ENST00000572888.1_Missense_Mutation_p.P49S			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	49					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TGGGCTCTGGGGGCGCCCAGC	0.687000													5	22					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153038712	153038712	+	Silent	SNP	C	C	T	rs139989610	byFrequency	TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chrX:153038712C>T	ENST00000538966.1	+	19	3274	c.3003C>T	c.(3001-3003)atC>atT	p.I1001I	PLXNB3_ENST00000361971.5_Silent_p.I978I|PLXNB3_ENST00000538776.1_Silent_p.I631I|PLXNB3_ENST00000538282.1_Silent_p.I588I	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	978	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGAGGCCATCGTGTGCCGTA	0.667000													9	24					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5848517	5848517	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:5848517T>A	ENST00000327087.8	-	13	1459	c.1388A>T	c.(1387-1389)tAc>tTc	p.Y463F	ANO2_ENST00000356134.5_Missense_Mutation_p.Y464F|ANO2_ENST00000546188.1_Missense_Mutation_p.Y464F|ANO2_ENST00000538154.1_5'UTR			Q9NQ90	ANO2_HUMAN	anoctamin 2	468						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GTCCCAAAAGTAGCCCAGTCG	0.413000													3	13					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39949493	39949493	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:39949493C>T	ENST00000599117.1	+	7	722	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	SUPT5H_ENST00000432763.2_Missense_Mutation_p.R119C|SUPT5H_ENST00000598725.1_Missense_Mutation_p.R119C|SUPT5H_ENST00000402194.2_Missense_Mutation_p.R115C|SUPT5H_ENST00000359191.6_Missense_Mutation_p.R115C			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	119					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGATGAAGATCGTTCTGGGGC	0.562000													21	72					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17696727	17696727	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:17696727C>T	ENST00000399080.2	-	1	2979	c.2956G>A	c.(2956-2958)Gaa>Aaa	p.E986K		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	986										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTAGAAGTTCATTTTCCCTA	0.313000													44	79					0	0	1	0	0
VMAC	400673	broad.mit.edu	37	19	5904923	5904923	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:5904923C>T	ENST00000339485.3	+	1	55	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	AC104532.2_ENST00000588891.1_Nonsense_Mutation_p.Q8*	NM_001017921.3	NP_001017921.1	Q2NL98	VMAC_HUMAN	vimentin-type intermediate filament associated coiled-coil protein	8						cytoplasm				lung(1)	1						GCCGGCCCTGCAGATCCGGGA	0.786000													3	6					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558604	140558604	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:140558604G>A	ENST00000239444.2	+	1	1234	c.989G>A	c.(988-990)gGa>gAa	p.G330E		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		330	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTTTTCTGGAAAATGCACC	0.428000													45	388					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61736465	61736465	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:61736465G>A	ENST00000423902.2	+	13	3747	c.3268G>A	c.(3268-3270)Gat>Aat	p.D1090N	CHD7_ENST00000525508.1_Missense_Mutation_p.D1090N|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1090	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GATTTTGACTGATTGTCCTGA	0.423000													28	77					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11575526	11575526	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:11575526G>A	ENST00000294484.6	+	5	1692	c.1554G>A	c.(1552-1554)ctG>ctA	p.L518L	PTCHD2_ENST00000389575.3_Silent_p.L518L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	518	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TGGGCATCCTGAATGGGGTGG	0.577000													20	112					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141752115	141752115	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:141752115G>A	ENST00000475668.2	+	25	2881	c.2827G>A	c.(2827-2829)Gat>Aat	p.D943N	MGAM_ENST00000549489.2_Missense_Mutation_p.D943N			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	943					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACAGATATTGATCTTCTCCT	0.398000													8	13					0	0	1	0	0
OR7A5	26659	broad.mit.edu	37	19	14938300	14938300	+	Missense_Mutation	SNP	A	A	T	rs62122651		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:14938300A>T	ENST00000322301.3	-	2	841	c.754T>A	c.(754-756)Tat>Aat	p.Y252N	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.Y252N			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						ATTGCACCATAAAATAAGGAG	0.478000													16	89					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996574	143996574	+	Silent	SNP	C	C	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:143996574C>A	ENST00000323110.2	-	3	485	c.483G>T	c.(481-483)gtG>gtT	p.V161V		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	161					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)	CCACTGCATCCACCATCGGGA	0.627000									Familial Hyperaldosteronism type I				7	52					0.000442599	0.000444003	1	1	0
FAM118B	79607	broad.mit.edu	37	11	126110778	126110778	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:126110778C>T	ENST00000533050.1	+	4	671	c.178C>T	c.(178-180)Cca>Tca	p.P60S	FAM118B_ENST00000360194.4_Missense_Mutation_p.P60S|FAM118B_ENST00000525728.1_3'UTR	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	60										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		GCCCCAAGTTCCAGCCCTCAA	0.438000													136	174					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82834175	82834175	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:82834175G>A	ENST00000265077.3	+	8	5918	c.5353G>A	c.(5353-5355)Gaa>Aaa	p.E1785K	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E798K|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1785	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.E1785*(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GTCTGAAAGGGAAATGACAGA	0.403000													18	86					0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7848075	7848075	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:7848075G>A	ENST00000329913.3	-	1	297	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	84					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGGAGAAAGCGAAGTACATTC	0.483000													40	125					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65537031	65537031	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:65537031C>T	ENST00000310193.3	-	2	361	c.188G>A	c.(187-189)cGa>cAa	p.R63Q		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	63					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GGGGTCTTTTCGTAAGTTCAG	0.383000													56	68					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46896340	46896340	+	Missense_Mutation	SNP	G	G	A	rs138471288	by1000genomes	TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr21:46896340G>A	ENST00000359759.4	+	5	2140	c.2119G>A	c.(2119-2121)Gaa>Aaa	p.E707K	COL18A1_ENST00000400337.2_Missense_Mutation_p.E292K|COL18A1_ENST00000355480.5_Missense_Mutation_p.E472K			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	707	Nonhelical region 1 (NC1).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CAGCAGCACGGAAGATTCCAG	0.632000													17	46					0	0	1	0	0
TMED9	54732	broad.mit.edu	37	5	177022285	177022285	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:177022285C>T	ENST00000332598.6	+	5	633	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	192					transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAGCGCTTCCGGCAGACCA	0.602000													21	82					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585116	82585116	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:82585116G>A	ENST00000423517.2	-	5	5490	c.5153C>T	c.(5152-5154)tCg>tTg	p.S1718L	PCLO_ENST00000333891.8_Missense_Mutation_p.S1718L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1649					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATGCAGACTCGAAGATCCCTC	0.458000													22	168					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33559928	33559928	+	Silent	SNP	A	A	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:33559928A>C	ENST00000228567.3	-	3	1169	c.873T>G	c.(871-873)acT>acG	p.T291T	SYT10_ENST00000535526.1_Silent_p.T110T	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	291	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GAGGATTTAAAGTCTTTCTGT	0.363000													21	63					0	0	1	0	0
MKNK1	8569	broad.mit.edu	37	1	47046283	47046283	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:47046283G>A	ENST00000371946.4	-	4	316	c.153C>T	c.(151-153)acC>acT	p.T51T	MKNK1_ENST00000545730.1_Silent_p.T51T|MKNK1_ENST00000341183.5_Silent_p.T51T|MKNK1_ENST00000428112.2_Silent_p.T51T|MKNK1_ENST00000371945.4_Silent_p.T51T|MKNK1_ENST00000465783.1_Silent_p.T51T|MKNK1_ENST00000371944.4_5'UTR	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	51	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					GCAATTCAGAGGTCAGCTTGT	0.468000													22	62					0	0	1	0	0
RAX	30062	broad.mit.edu	37	18	56939713	56939713	+	Silent	SNP	C	C	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr18:56939713C>A	ENST00000334889.3	-	2	609	c.423G>T	c.(421-423)acG>acT	p.T141T	RAX_ENST00000256852.7_Intron	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	141					visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T141T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		TGGTGAAAGTCGTGCGGTTCC	0.652000													75	168					7.14593e-30	7.30763e-30	1	1	0
PDPN	10630	broad.mit.edu	37	1	13940211	13940211	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:13940211G>A	ENST00000294489.6	+	4	930	c.589G>A	c.(589-591)Gtt>Att	p.V197I	PDPN_ENST00000513143.1_Missense_Mutation_p.V79I|PDPN_ENST00000475043.1_Missense_Mutation_p.V79I|PDPN_ENST00000376061.4_Missense_Mutation_p.V79I|PDPN_ENST00000376057.4_Missense_Mutation_p.V197I|PDPN_ENST00000487038.1_Missense_Mutation_p.V79I|PDPN_ENST00000509009.1_Missense_Mutation_p.V116I			Q86YL7	PDPN_HUMAN	podoplanin	121					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		ACAGACAACAGTTGAGAAAGG	0.318000													10	50					0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33137621	33137621	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr10:33137621C>T	ENST00000375030.2	+	20	2094	c.1476C>T	c.(1474-1476)atC>atT	p.I492I	C10orf68_ENST00000375028.3_Silent_p.I537I|C10orf68_ENST00000375025.4_Silent_p.I597I			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	533										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						CAAAAGTGATCAATTTATCAC	0.284000													31	60					0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	335158	335158	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr18:335158C>T	ENST00000400256.3	-	6	1607	c.1400G>A	c.(1399-1401)gGa>gAa	p.G467E		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	467	Collagen-like 1.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCCTTTCTGTCCCTTGTTGCC	0.622000													7	114					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64469451	64469451	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:64469451C>T	ENST00000358025.3	+	30	4030	c.3800C>T	c.(3799-3801)tCc>tTc	p.S1267F	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.S1267F|SYNE2_ENST00000554584.1_Missense_Mutation_p.S1267F	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1267					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATCCAAGATTCCATAGCAAAA	0.363000													23	49					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063836	9063836	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:9063836G>A	ENST00000397910.4	-	3	23813	c.23610C>T	c.(23608-23610)tcC>tcT	p.S7870S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7872	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACCTGGGATGGAGGTGACGT	0.522000													15	88					0	0	1	0	0
NDUFAF3	25915	broad.mit.edu	37	3	49060173	49060173	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:49060173C>T	ENST00000326925.6	+	3	1443	c.309C>T	c.(307-309)tcC>tcT	p.S103S	NDUFAF3_ENST00000395458.2_Silent_p.S46S|NDUFAF3_ENST00000326912.4_Silent_p.S46S|NDUFAF3_ENST00000451378.2_Silent_p.S46S	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	103					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						ACAGCTTTTCCCTCTTCTGGT	0.592000													94	136					0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77844277	77844277	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:77844277G>A	ENST00000216471.4	+	1	802	c.516G>A	c.(514-516)tcG>tcA	p.S172S	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	172										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGAGGTTTCGGGGGCCACAG	0.483000													73	75					0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10479790	10479790	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:10479790C>T	ENST00000538557.1	+	13	1641	c.1397C>T	c.(1396-1398)tCg>tTg	p.S466L	PGD_ENST00000498356.1_3'UTR|PGD_ENST00000541529.1_Missense_Mutation_p.S457L|PGD_ENST00000270776.8_Missense_Mutation_p.S479L			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	479					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		GTGTCATCCTCGTCATACAAT	0.567000													30	216					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120823587	120823587	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:120823587C>T	ENST00000527524.2	+	15	1901	c.1614C>T	c.(1612-1614)tcC>tcT	p.S538S	GRIK4_ENST00000438375.2_Silent_p.S538S			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	538					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.S538S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GCTATTTCTCCTTCCTGGACC	0.547000											OREG0021429	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	130					0	0	1	0	0
PRPSAP2	5636	broad.mit.edu	37	17	18832139	18832139	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:18832139G>A	ENST00000268835.2	+	11	1103	c.820G>A	c.(820-822)Gat>Aat	p.D274N	PRPSAP2_ENST00000536323.1_Missense_Mutation_p.D188N|PRPSAP2_ENST00000419071.2_Missense_Mutation_p.D234N|PRPSAP2_ENST00000542013.1_Intron	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	274					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						CATCATTGATGATGTTGACAG	0.433000													50	79					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887871	3887871	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:3887871G>A	ENST00000319331.3	+	2	2307	c.1546G>A	c.(1546-1548)Gtt>Att	p.V516I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	516						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AACAATTAAGGTTAATGGGAC	0.428000													52	84					0	0	1	0	0
SLC7A10	56301	broad.mit.edu	37	19	33703484	33703484	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:33703484G>A	ENST00000253188.3	-	4	716	c.570C>T	c.(568-570)ttC>ttT	p.F190F		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	190					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					TCCCGCCTGTGAACATGTCCT	0.677000													20	76					0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999875	112999875	+	Silent	SNP	T	T	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:112999875T>C	ENST00000271277.6	+	6	1986	c.1761T>C	c.(1759-1761)ccT>ccC	p.P587P	CTTNBP2NL_ENST00000607039.1_3'UTR|RP4-671G15.3_ENST00000508462.1_RNA	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	587						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAAGAAACCTGGCCTCACCC	0.567000													35	112					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042590	74042590	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:74042590G>A	ENST00000409561.1	+	3	1361	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	414										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GCCTGGTTCTGAAAATGCCAA	0.458000													23	53					0	0	1	0	0
UBXN10	127733	broad.mit.edu	37	1	20517502	20517502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:20517502C>T	ENST00000375099.3	+	2	532	c.448C>T	c.(448-450)Caa>Taa	p.Q150*		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	150										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						GGCTCTTTACCAAGACGAGAC	0.527000													31	60					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377635	77377635	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:77377635C>T	ENST00000451710.3	-	26	4189	c.3952G>A	c.(3952-3954)Gaa>Aaa	p.E1318K	TRPM6_ENST00000376864.4_Missense_Mutation_p.E1318K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.E1313K|TRPM6_ENST00000361255.3_Missense_Mutation_p.E1313K|TRPM6_ENST00000360774.1_Missense_Mutation_p.E1318K			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1318					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCTTGCCTTTCCTGGTCATTT	0.488000													100	272					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228860234	228860234	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:228860234C>T	ENST00000392056.3	-	8	4671	c.4625G>A	c.(4624-4626)cGa>cAa	p.R1542Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1542Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1542						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCTCATGGATCGCTCACTGAG	0.498000													103	206					0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232079626	232079626	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:232079626G>A	ENST00000349938.4	+	4	454	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	87							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		AGTTCCATCCGAGATGGGGAC	0.488000													33	61					0	0	1	0	0
SNAI1	6615	broad.mit.edu	37	20	48600606	48600606	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr20:48600606C>T	ENST00000244050.2	+	2	389	c.328C>T	c.(328-330)Cct>Tct	p.P110S		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	110					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CTCACCGGCTCCTTCGTCCTT	0.642000													152	179					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120823586	120823586	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:120823586C>T	ENST00000527524.2	+	15	1900	c.1613C>T	c.(1612-1614)tCc>tTc	p.S538F	GRIK4_ENST00000438375.2_Missense_Mutation_p.S538F			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	538					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GGCTATTTCTCCTTCCTGGAC	0.547000											OREG0021429	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	130					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10516501	10516501	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:10516501G>A	ENST00000444303.2	+	7	1185	c.713G>A	c.(712-714)gGg>gAg	p.G238E	AMPD3_ENST00000396554.3_Missense_Mutation_p.G406E	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	397					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AACCCTGTGGGGGCCAGTGAG	0.532000													46	161					0	0	1	0	0
CYTH2	9266	broad.mit.edu	37	19	48978196	48978196	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:48978196C>T	ENST00000427476.1	+	8	1098	c.798C>T	c.(796-798)ctC>ctT	p.L266L	CYTH2_ENST00000452733.2_Silent_p.L266L	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	266	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGGGCTGGCTCCTGAAGCTGG	0.627000													28	74					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818952	159818952	+	RNA	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:159818952C>T	ENST00000497452.1	-	0	517																											AAAAAGACCTCCAGTGTCACG	0.488000													68	171					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20620574	20620574	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:20620574C>T	ENST00000504154.1	+	37	4784	c.4532C>T	c.(4531-4533)tCc>tTc	p.S1511F	SLIT2_ENST00000273739.5_Missense_Mutation_p.S1524F|SLIT2_ENST00000503837.1_Missense_Mutation_p.S1507F|SLIT2_ENST00000503823.1_Missense_Mutation_p.S1503F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1511	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GACGGCTCCTCCTTTGTGGAC	0.547000													29	66					0	0	1	0	0
HEXB	3074	broad.mit.edu	37	5	74016473	74016473	+	Missense_Mutation	SNP	G	G	A	rs121907983		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:74016473G>A	ENST00000511181.1	+	13	1751	c.839G>A	c.(838-840)cGg>cAg	p.R280Q	HEXB_ENST00000261416.7_Missense_Mutation_p.R505Q|HEXB_ENST00000509579.1_5'UTR|HEXB_ENST00000513539.1_3'UTR			P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	505					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TTTAGGCCTCGGGCAAGTGCT	0.458000													11	59					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231404082	231404082	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:231404082C>T	ENST00000340126.4	+	25	2226	c.2195C>T	c.(2194-2196)tCc>tTc	p.S732F	AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	480					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CACATCCCATCCGTGGAAGCT	0.507000													26	54					0	0	1	0	0
GCG	2641	broad.mit.edu	37	2	163003868	163003868	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:163003868C>T	ENST00000418842.2	-	3	503	c.249G>A	c.(247-249)agG>agA	p.R83R	GCG_ENST00000375497.3_Silent_p.R83R	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	83		Cleavage; by PCSK1 and PCSK2.			cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity	p.R83S(2)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	CTTACCTGTTCCTCTTGGTAT	0.408000													47	219					0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5933142	5933142	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr20:5933142C>T	ENST00000378896.3	+	3	598	c.221C>T	c.(220-222)cCa>cTa	p.P74L	MCM8_ENST00000265187.4_Missense_Mutation_p.P74L|MCM8_ENST00000378883.1_Missense_Mutation_p.P74L|MCM8_ENST00000378886.2_Missense_Mutation_p.P74L	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	74					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CGATTCATACCATATAAAGGC	0.338000													72	85					0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12034841	12034841	+	Silent	SNP	C	C	T	rs140513387		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:12034841C>T	ENST00000196061.4	+	19	2187	c.2160C>T	c.(2158-2160)atC>atT	p.I720I	PLOD1_ENST00000376369.3_Silent_p.I767I	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	720	Fe2OG dioxygenase.				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCCGCTACATCGCAGTCTCCT	0.622000													42	111					0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142001122	142001122	+	RNA	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:142001122G>A	ENST00000455382.2	+	0	288																											TTATAATAATGAAATCTCAGA	0.398000													21	32					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133152347	133152347	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:133152347A>C	ENST00000388996.4	-	11	1964	c.1544T>G	c.(1543-1545)cTg>cGg	p.L515R	KCNQ3_ENST00000521134.1_Missense_Mutation_p.L395R|KCNQ3_ENST00000519445.1_Missense_Mutation_p.L515R	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	515					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGCGGCCTTCAGGGTGGGGAT	0.617000													41	46					0	0	1	0	0
ATP6V0E2	155066	broad.mit.edu	37	7	149575855	149575855	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:149575855G>A	ENST00000456496.2	+	3	1339	c.388G>A	c.(388-390)Gag>Aag	p.E130K	ATP6V0E2_ENST00000425642.2_Missense_Mutation_p.E81K|ATP6V0E2_ENST00000479613.1_Intron|ATP6V0E2_ENST00000606024.1_Intron|ATP6V0E2_ENST00000421974.2_Intron|ATP6V0E2_ENST00000495408.1_3'UTR|ATP6V0E2_ENST00000464662.1_Missense_Mutation_p.E81K	NM_145230.2	NP_660265.2	Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2	81					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			CTTCCTGTGGGAGTGACCCGC	0.657000													32	120					0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72107825	72107825	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:72107825G>A	ENST00000540303.2	+	2	72	c.40G>A	c.(40-42)Gga>Aga	p.G14R	HPR_ENST00000356967.5_Missense_Mutation_p.G14R|HPR_ENST00000561690.1_Missense_Mutation_p.G14R|HPR_ENST00000228226.8_Missense_Mutation_p.G51R	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	14					proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CCTGCTCTGGGGACGACAGCT	0.527000													82	203					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110576366	110576366	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chrX:110576366C>T	ENST00000338081.3	-	4	1135	c.964G>A	c.(964-966)Gat>Aat	p.D322N	DCX_ENST00000488120.1_Missense_Mutation_p.D241N|DCX_ENST00000356915.2_Missense_Mutation_p.D241N|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Missense_Mutation_p.D241N|DCX_ENST00000371993.2_Missense_Mutation_p.D241N	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	322	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CCAAAGAAATCATGGAGACAA	0.398000													12	11					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975930	76975930	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:76975930G>A	ENST00000409911.1	-	3	1890	c.1667C>T	c.(1666-1668)cCa>cTa	p.P556L	LRRTM4_ENST00000409093.1_Missense_Mutation_p.P555L|LRRTM4_ENST00000409884.1_Missense_Mutation_p.P555L	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	555						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTCCTGCTCTGGAGACACTGT	0.592000													33	123					0	0	1	0	0
FLVCR1	28982	broad.mit.edu	37	1	213032220	213032220	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:213032220C>T	ENST00000366971.4	+	1	624	c.426C>T	c.(424-426)acC>acT	p.T142T		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	142					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		ACGGTGTCACCTTGCTGCACA	0.582000													22	115					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76499049	76499049	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:76499049G>A	ENST00000389840.5	-	32	5113	c.4989C>T	c.(4987-4989)acC>acT	p.T1663T	DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000585328.1_Silent_p.T1664T					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGTGCCGGAGGGTAGAGCACA	0.622000													21	35					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14972641	14972641	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:14972641C>T	ENST00000287667.7	+	23	2878	c.2707C>T	c.(2707-2709)Cgt>Tgt	p.R903C		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	903						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TGGCCTGTTTCGTTCCAACCT	0.532000													42	257					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101381342	101381342	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:101381342C>T	ENST00000392979.3	+	7	884	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.R210W	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	210						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AAGCAGGTTTCGGAGATGGTT	0.507000										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	161	404					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114057944	114057944	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:114057944C>T	ENST00000462705.1	-	12	2736	c.1915G>A	c.(1915-1917)Ggg>Agg	p.G639R	ZBTB20_ENST00000393785.2_Missense_Mutation_p.G639R|ZBTB20_ENST00000481632.1_Missense_Mutation_p.G639R|ZBTB20_ENST00000471418.1_Missense_Mutation_p.G639R|ZBTB20_ENST00000357258.3_Missense_Mutation_p.G639R|ZBTB20_ENST00000474710.1_Missense_Mutation_p.G712R|ZBTB20_ENST00000464560.1_Missense_Mutation_p.G639R	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TAAGTGGTCCCCTCCGTGCAG	0.627000													44	93					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100382375	100382375	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:100382375C>T	ENST00000281806.2	-	5	920	c.606G>A	c.(604-606)acG>acA	p.T202T	MCHR2_ENST00000445970.1_Silent_p.T202T|MCHR2_ENST00000369212.1_Silent_p.T202T	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	202						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T202T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAGTTGTTATCGTCAAATAAA	0.333000													24	77					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23932116	23932116	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr15:23932116C>T	ENST00000331837.4	-	1	334	c.249G>A	c.(247-249)ccG>ccA	p.P83P		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	83					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.P83P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGGCCGCGCTCGGGGCCTGGT	0.756000									Prader-Willi syndrome				21	40					0	0	1	0	0
NOMO2	283820	broad.mit.edu	37	16	18555041	18555041	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:18555041G>A	ENST00000330537.6	-	7	803	c.633C>T	c.(631-633)ccC>ccT	p.P211P	NOMO2_ENST00000543392.1_Silent_p.P44P|NOMO2_ENST00000381474.3_Silent_p.P211P	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	211						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CAACTATGAGGGGACTGGCCG	0.438000													19	127					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25593679	25593679	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr18:25593679G>A	ENST00000269141.3	-	3	790	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L	CDH2_ENST00000399380.3_Silent_p.L92L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	123					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTTGGCTTCAGGCTCAATTTT	0.418000													5	353					0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50941845	50941845	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:50941845G>A	ENST00000216080.5	-	14	2192	c.2024C>T	c.(2023-2025)tCg>tTg	p.S675L	LMF2_ENST00000380796.3_Missense_Mutation_p.S587L|LMF2_ENST00000474879.2_Missense_Mutation_p.S700L			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	700						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTGGTCCTCGAACTACTGGA	0.672000													29	38					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27449086	27449086	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:27449086G>T	ENST00000264705.4	+	13	2092	c.1930G>T	c.(1930-1932)Gag>Tag	p.E644*	CAD_ENST00000403525.1_Intron	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	644	ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GAATGACAGGGAGTATCAGCT	0.552000													44	72					3.76604e-16	3.83473e-16	1	1	0
TBX15	6913	broad.mit.edu	37	1	119474373	119474373	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:119474373G>A	ENST00000369429.3	-	2	297	c.288C>T	c.(286-288)gcC>gcT	p.A96A	TBX15_ENST00000207157.3_5'UTR			Q96SF7	TBX15_HUMAN	T-box 15	96						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CAGCACCAGAGGCCAGGTCAG	0.527000													18	45					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238259780	238259780	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:238259780C>T	ENST00000295550.4	-	27	7261	c.6809G>A	c.(6808-6810)gGa>gAa	p.G2270E	COL6A3_ENST00000472056.1_Missense_Mutation_p.G1663E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2069E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2064E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2070E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2064E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2270	Collagen-like 4.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AACCTTTCTTCCCAGTGGACC	0.587000													7	92					0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92988086	92988086	+	Missense_Mutation	SNP	G	G	A	rs147607028	byFrequency	TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr15:92988086G>A	ENST00000268164.3	+	5	1006	c.769G>A	c.(769-771)Gag>Aag	p.E257K	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.E236K	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	257					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GTGGGTCAACGAGCTTATCCT	0.642000													51	115					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233756082	233756082	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:233756082T>A	ENST00000264051.3	-	8	1536	c.1258A>T	c.(1258-1260)Aag>Tag	p.K420*	NGEF_ENST00000373552.4_Nonsense_Mutation_p.K328*|NGEF_ENST00000539537.1_Nonsense_Mutation_p.K143*	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	420	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		ACCAACAGCTTGAGGCGTGTG	0.612000													42	80					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141130601	141130601	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:141130601C>T	ENST00000389484.3	-	69	11715	c.10744G>A	c.(10744-10746)Gaa>Aaa	p.E3582K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3582	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCTCATCTTCCCCATATTTG	0.363000										TSP Lung(27;0.18)			24	175					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129070703	129070703	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:129070703G>A	ENST00000274487.4	+	22	3518	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1125	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACATGGAAATGAATGTTTTTC	0.418000													27	86					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188223969	188223969	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:188223969G>A	ENST00000409998.1	-	12	1593	c.812C>T	c.(811-813)gCc>gTc	p.A271V	CALCRL_ENST00000410068.1_Missense_Mutation_p.A271V|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.A271V			Q16602	CALRL_HUMAN	calcitonin receptor-like	271						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TCTAGCAATGGCATGTATACA	0.239000													4	12					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413034	105413034	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:105413034G>A	ENST00000333244.5	-	7	8873	c.8754C>T	c.(8752-8754)gtC>gtT	p.V2918V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2918						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)			TGGGGCCCTTGACGTCTATCT	0.652000													207	219					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3164368	3164368	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr18:3164368G>A	ENST00000400569.3	-	10	1742	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	MYOM1_ENST00000261606.7_Missense_Mutation_p.S470F|MYOM1_ENST00000356443.4_Missense_Mutation_p.S470F			P52179	MYOM1_HUMAN	myomesin 1	470	Ig-like C2-type 2.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTTGAGATGGGAAAATGTCAG	0.398000													4	32					0	0	1	0	0
CRYBB1	1414	broad.mit.edu	37	22	26997985	26997985	+	Splice_Site	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:26997985C>T	ENST00000215939.2	-	5	563	c.432_splice	c.e5-1	p.D145_splice		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	145	Connecting peptide.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TCCTGGGCATCCTGGGGAAAG	0.562000													21	69					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92733606	92733606	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:92733606G>A	ENST00000379958.2	-	3	2074	c.1805C>T	c.(1804-1806)tCa>tTa	p.S602L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	602						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACATTGGCTTGAAATTTCATC	0.343000													50	139					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52323836	52323836	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:52323836C>T	ENST00000356297.4	-	16	2136	c.2036G>A	c.(2035-2037)gGg>gAg	p.G679E	PXDNL_ENST00000543296.1_Missense_Mutation_p.G679E	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	679					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACAGTGAGCCCCTGCTTCAC	0.507000													8	9					0	0	1	0	0
RPL3L	6123	broad.mit.edu	37	16	1995507	1995507	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:1995507G>A	ENST00000268661.7	-	9	1254	c.1160C>T	c.(1159-1161)gCc>gTc	p.A387V		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	387					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CACCATGAAGGCCCTCTTCTC	0.597000													21	45					0	0	1	0	0
CASP3	836	broad.mit.edu	37	4	185550514	185550514	+	Missense_Mutation	SNP	G	G	A	rs79348369		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:185550514G>A	ENST00000308394.4	-	8	1008	c.746C>T	c.(745-747)tCc>tTc	p.S249F	CASP3_ENST00000523916.1_Missense_Mutation_p.S249F|CASP3_ENST00000517513.1_3'UTR|CASP3_ENST00000393585.2_3'UTR	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	249					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	AAAGGAAAAGGACTCAAATTC	0.398000													65	92					0	0	1	0	0
CCDC153	283152	broad.mit.edu	37	11	119063924	119063924	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:119063924C>T	ENST00000503566.2	-	4	285	c.286G>A	c.(286-288)Gag>Aag	p.E96K	CCDC153_ENST00000415318.1_Missense_Mutation_p.E96K			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	96										lung(3)|stomach(1)	4						TGCATATCCTCCTGCAGGGCA	0.597000													47	43					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31854531	31854531	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:31854531G>A	ENST00000397525.1	-	7	1116	c.893C>T	c.(892-894)cCt>cTt	p.P298L	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.P298L|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.P135L|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.P298L	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	298						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGACTGCTCAGGCAAGACAGC	0.507000													39	70					0	0	1	0	0
VAPA	9218	broad.mit.edu	37	18	9936135	9936135	+	Silent	SNP	G	G	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr18:9936135G>T	ENST00000400000.2	+	3	516	c.261G>T	c.(259-261)ccG>ccT	p.P87P	VAPA_ENST00000340541.4_Silent_p.P87P|VAPA_ENST00000584796.1_3'UTR	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	87	MSP.				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						ACTATGATCCGAATGAAAAGA	0.333000													58	121					5.5144e-22	5.62706e-22	1	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819839	159819839	+	RNA	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:159819839C>T	ENST00000497452.1	-	0	517																											ATTATGGGCCCTACGGTTCTT	0.408000													33	84					0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58342363	58342363	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr20:58342363G>A	ENST00000371015.1	+	5	1131	c.664G>A	c.(664-666)Gag>Aag	p.E222K	PHACTR3_ENST00000355648.4_Missense_Mutation_p.E181K|PHACTR3_ENST00000359926.3_Missense_Mutation_p.E219K|PHACTR3_ENST00000395636.2_Missense_Mutation_p.E181K|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000541461.1_Missense_Mutation_p.E181K|PHACTR3_ENST00000361300.4_Intron	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	222	Pro-rich.					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)			CAGACCTCTGGAGAGATCCGT	0.617000													15	111					0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201164	71201164	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:71201164C>T	ENST00000273936.4	+	1	467	c.408C>T	c.(406-408)tcC>tcT	p.S136S		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	136						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TAGATTTTTCCACTGACATAG	0.383000													28	76					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100281485	100281485	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:100281485G>A	ENST00000275732.5	-	16	3134	c.1925C>T	c.(1924-1926)tCg>tTg	p.S642L		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	642										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GAGGCGGCCCGAATCTGGCAC	0.597000													4	12					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233245457	233245457	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:233245457C>T	ENST00000392027.2	+	8	1259	c.990C>T	c.(988-990)ctC>ctT	p.L330L	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	330						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCTTCTTCCTCTTCGTGGAGG	0.662000													31	87					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18943063	18943063	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:18943063C>T	ENST00000262803.5	+	1	317	c.45C>T	c.(43-45)ttC>ttT	p.F15F	UPF1_ENST00000599848.1_Silent_p.F15F	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	15	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CTCTCACTTTCCTGGACACGG	0.687000													8	75					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28610986	28610986	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr18:28610986T>C	ENST00000434452.1	-	3	461	c.307A>G	c.(307-309)Aaa>Gaa	p.K103E	DSC3_ENST00000360428.4_Missense_Mutation_p.K103E	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	103					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTGTCTGTTTCCTTTTGTCA	0.353000													34	73					0	0	1	0	0
SPG21	51324	broad.mit.edu	37	15	65273318	65273318	+	Missense_Mutation	SNP	C	C	A	rs142452716		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr15:65273318C>A	ENST00000204566.2	-	3	404	c.109G>T	c.(109-111)Gcg>Tcg	p.A37S	SPG21_ENST00000433215.2_Missense_Mutation_p.A37S|SPG21_ENST00000416889.2_Missense_Mutation_p.A37S|SPG21_ENST00000560564.1_5'UTR|SPG21_ENST00000559199.1_5'UTR	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	37					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CGGGGGCCCGCGTCATAGAGC	0.453000													39	97					1.23713e-20	1.26105e-20	1	1	0
DENND3	22898	broad.mit.edu	37	8	142146802	142146802	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:142146802C>T	ENST00000519811.1	+	2	367	c.297C>T	c.(295-297)ctC>ctT	p.L99L	DENND3_ENST00000262585.2_Silent_p.L19L|DENND3_ENST00000518347.1_Silent_p.L99L|DENND3_ENST00000424248.1_Silent_p.L19L			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	19										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGAAGGGCCTCCCGGGGCCCC	0.647000													9	29					0	0	1	0	0
RIMS3	9783	broad.mit.edu	37	1	41107390	41107390	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:41107390G>A	ENST00000372684.3	-	3	677	c.208C>T	c.(208-210)Ccg>Tcg	p.P70S	RIMS3_ENST00000372683.1_Missense_Mutation_p.P70S	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	70					neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CCAGGCTGCGGAAGCTGGAGT	0.642000													25	81					0	0	1	0	0
RAMP1	10267	broad.mit.edu	37	2	238785922	238785922	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:238785922C>T	ENST00000254661.4	+	2	241	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	RAMP1_ENST00000403885.1_Missense_Mutation_p.R15W|RAMP1_ENST00000404910.2_Missense_Mutation_p.R15W|RAMP1_ENST00000409726.1_Missense_Mutation_p.R15W	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN	receptor (G protein-coupled) activity modifying protein 1	37					intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane	protein transporter activity			kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	TGCCCTCCTCCGGGAGCTCTG	0.627000													58	111					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3655127	3655127	+	Silent	SNP	G	G	A	rs144011498		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:3655127G>A	ENST00000263087.4	-	15	1808	c.1710C>T	c.(1708-1710)ccC>ccT	p.P570P		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	570					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGGTGAACCCGGGGTGCCCAC	0.572000													36	98					0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104130565	104130565	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:104130565C>T	ENST00000259407.2	-	3	614	c.506G>A	c.(505-507)gGt>gAt	p.G169D	BAAT_ENST00000395051.3_Missense_Mutation_p.G169D	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	169					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CCCACCCAAACCACCAAACAA	0.473000													16	40					0	0	1	0	0
TRAV10	28676	broad.mit.edu	37	14	22294209	22294209	+	RNA	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:22294209G>A	ENST00000390432.2	+	0	349																											CCAGCTCAGCGATTCAGCCTC	0.512000													9	63					0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947751	57947751	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:57947751G>A	ENST00000335397.3	+	3	1151	c.835G>A	c.(835-837)Gag>Aag	p.E279K		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GCTTTACACAGAGGTCATCCC	0.468000													52	72					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157504315	157504315	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:157504315G>A	ENST00000368189.3	-	8	1862	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	FCRL5_ENST00000356953.4_Intron|FCRL5_ENST00000361835.3_Intron|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368190.3_Intron			Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	0	Ig-like C2-type 6.					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)				ATTAGGGGAGGAAACTGGACA	0.483000													10	40					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111134961	111134961	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr13:111134961G>A	ENST00000360467.5	+	32	3163	c.2857G>A	c.(2857-2859)Gga>Aga	p.G953R		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	953	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGGATTTTTCGGAATACCCGG	0.542000													62	75					0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817420	77817420	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:77817420C>T	ENST00000334306.2	-	1	1582	c.1583G>A	c.(1582-1584)cGa>cAa	p.R528Q		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	528																	CTTCCTGGATCGAGGTGGGCG	0.572000													24	54					0	0	1	0	0
DCAF5	8816	broad.mit.edu	37	14	69522176	69522176	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:69522176G>A	ENST00000341516.5	-	9	1374	c.1227C>T	c.(1225-1227)gtC>gtT	p.V409V	DCAF5_ENST00000557386.1_Silent_p.V408V|DCAF5_ENST00000554215.1_Silent_p.V327V|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000556847.1_Silent_p.V327V	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	409						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GGTCTTCCTGGACCGACTGGT	0.557000													37	155					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47650309	47650309	+	Missense_Mutation	SNP	G	G	A	rs144129468	by1000genomes	TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:47650309G>A	ENST00000398742.2	+	5	1859	c.1810G>A	c.(1810-1812)Gat>Aat	p.D604N	GPR111_ENST00000296862.1_Missense_Mutation_p.D672N|GPR111_ENST00000507065.1_Missense_Mutation_p.D604N			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	672					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CACTGTCATCGATGACAGATC	0.493000													11	71					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247004266	247004266	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:247004266G>A	ENST00000366508.1	-	36	6884	c.6748C>T	c.(6748-6750)Ccc>Tcc	p.P2250S	AHCTF1_ENST00000391829.2_Missense_Mutation_p.P2215S|AHCTF1_ENST00000326225.3_Missense_Mutation_p.P2224S|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2215	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATTTCTATGGGAGGAGGTGAC	0.403000													21	40					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137792215	137792215	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:137792215G>A	ENST00000242375.3	+	7	786	c.744G>A	c.(742-744)ggG>ggA	p.G248G	AKR1D1_ENST00000411726.2_Silent_p.G207G|AKR1D1_ENST00000432161.1_Silent_p.G248G|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	248					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						ACTCATTGGGGAAAAGGTACA	0.363000													88	113					0	0	1	0	0
BCL2L11	10018	broad.mit.edu	37	2	111921785	111921785	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:111921785C>T	ENST00000393256.3	+	4	847	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	BCL2L11_ENST00000308659.8_Missense_Mutation_p.R132C	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	192					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding	p.R192S(1)		endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						TTACATTGTCCGCCTGGTGTG	0.463000													36	74					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61623020	61623020	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:61623020C>T	ENST00000583023.1	+	14	2753	c.2742C>T	c.(2740-2742)tcC>tcT	p.S914S	KCNH6_ENST00000314672.5_Silent_p.S878S|KCNH6_ENST00000581784.1_Silent_p.S825S|KCNH6_ENST00000456941.2_Silent_p.S825S	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	914					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	ACAGGAACTCCTCCCCCAGGA	0.592000													10	105					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70948979	70948979	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:70948979C>T	ENST00000357250.6	-	33	2248	c.2090G>A	c.(2089-2091)gGa>gAa	p.G697E	COL9A1_ENST00000370499.4_Missense_Mutation_p.G454E|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000320755.7_Missense_Mutation_p.G454E|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	697	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GCCAGGTAATCCTATATCTCC	0.259000													17	115					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1093298	1093298	+	Missense_Mutation	SNP	C	C	T	rs147438840	by1000genomes	TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:1093298C>T	ENST00000441003.2	+	30	5144	c.5117C>T	c.(5116-5118)aCg>aTg	p.T1706M	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1673M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1698	Approximate repeats.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	accaccactacggtgacccca	0.637000													5	12					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123965057	123965057	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:123965057C>T	ENST00000314393.4	+	3	2142	c.1307C>T	c.(1306-1308)cCc>cTc	p.P436L		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	436	Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.					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)			GTGGCCAACCCCCCGCTCACA	0.612000													32	34					0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	434558	434558	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:434558C>T	ENST00000316418.5	+	12	1813	c.1769C>T	c.(1768-1770)aCc>aTc	p.T590I	AHRR_ENST00000506456.1_Missense_Mutation_p.T428I|AHRR_ENST00000512529.1_Missense_Mutation_p.T418I|AHRR_ENST00000505113.1_Missense_Mutation_p.T572I	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	572	Needed for transcriptional repression (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ACCTTCCCTACCAGGATGCAC	0.652000													10	49					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929400	121929400	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:121929400G>A	ENST00000265922.3	-	8	2709	c.2248C>T	c.(2248-2250)Ctc>Ttc	p.L750F	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		750					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GACTGTTTGAGGATCTCCGTG	0.502000													95	131					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136479565	136479565	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:136479565C>A	ENST00000264160.4	+	24	3218	c.2848C>A	c.(2848-2850)Cca>Aca	p.P950T	R3HDM1_ENST00000329971.3_Missense_Mutation_p.P821T|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P951T|R3HDM1_ENST00000409478.1_Missense_Mutation_p.P822T|R3HDM1_ENST00000410054.1_Missense_Mutation_p.P895T	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	950							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CGGACACATTCCAAACCAACA	0.458000													25	39					4.22769e-11	4.28641e-11	1	1	0
TNRC18	84629	broad.mit.edu	37	7	5391507	5391507	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:5391507G>A	ENST00000399537.4	-	17	5761	c.5413C>T	c.(5413-5415)Cga>Tga	p.R1805*	TNRC18_ENST00000430969.1_Nonsense_Mutation_p.R1805*			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1805							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCGGCCTCTCGAAGCAGCAGA	0.597000													6	42					0	0	1	0	0
ZNF502	91392	broad.mit.edu	37	3	44763673	44763673	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:44763673G>A	ENST00000296091.4	+	4	1620	c.1364G>A	c.(1363-1365)aGa>aAa	p.R455K	ZNF502_ENST00000449836.1_Missense_Mutation_p.R455K|ZNF502_ENST00000436624.2_Missense_Mutation_p.R455K	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CAGCATATGAGAATTCATACT	0.418000													12	61					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736670	12736670	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chrX:12736670C>T	ENST00000380682.1	+	16	4231	c.3725C>T	c.(3724-3726)tCc>tTc	p.S1242F		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1242					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CTCTGCCCCTCCCTGGGGAAG	0.607000													43	56					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19393353	19393353	+	Missense_Mutation	SNP	A	A	T	rs34074246		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:19393353A>T	ENST00000263208.5	-	5	609	c.353T>A	c.(352-354)gTg>gAg	p.V118E	HIRA_ENST00000340170.4_Missense_Mutation_p.V118E|HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000546308.1_Missense_Mutation_p.V74E|HIRA_ENST00000541063.1_Missense_Mutation_p.V74E	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	118					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCACTGCTCCACATTGGCAAG	0.602000													43	83					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138447651	138447651	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:138447651G>A	ENST00000310018.2	-	6	693	c.411C>T	c.(409-411)ttC>ttT	p.F137F	ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000353492.4_Silent_p.F137F|ATP6V0A4_ENST00000393054.1_Silent_p.F137F	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	137					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCACCTCAAAGAAGTCTTGGG	0.468000													173	183					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70639578	70639578	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:70639578G>A	ENST00000322773.4	+	6	754	c.652G>A	c.(652-654)Ggc>Agc	p.G218S		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	218	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGCTTCAGATGGCAAGCCTGT	0.348000													25	113					0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135378950	135378950	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:135378950C>T	ENST00000354042.4	-	10	1742	c.1053G>A	c.(1051-1053)aaG>aaA	p.K351K		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	351						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CCCTTTTGGTCTTCTTCTTCT	0.408000													8	188					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143033749	143033749	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:143033749A>G	ENST00000513000.1	-	23	2655	c.2222T>C	c.(2221-2223)gTg>gCg	p.V741A	INPP4B_ENST00000262992.4_Missense_Mutation_p.V741A|INPP4B_ENST00000508116.1_Missense_Mutation_p.V741A|INPP4B_ENST00000308502.4_Missense_Mutation_p.V741A|INPP4B_ENST00000509777.1_Missense_Mutation_p.V741A	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	741					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TACTGGATACACATGAAGCAA	0.403000													25	91					0	0	1	0	0
MLF2	8079	broad.mit.edu	37	12	6859119	6859119	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:6859119A>T	ENST00000203630.5	-	7	1098	c.454T>A	c.(454-456)Tcc>Acc	p.S152T	MLF2_ENST00000435120.1_Missense_Mutation_p.S152T|MLF2_ENST00000539187.1_Missense_Mutation_p.S152T|MLF2_ENST00000542154.1_Missense_Mutation_p.S152T			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	152					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						TGCCCAATGGACATCTGCTCC	0.607000													38	74					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13776635	13776635	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:13776635G>A	ENST00000265104.4	-	55	9390	c.9286C>T	c.(9286-9288)Cga>Tga	p.R3096*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3096	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTCTGTTTCGAAATTTCTCC	0.483000									Kartagener syndrome				26	108					0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49574607	49574607	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:49574607C>T	ENST00000371175.4	-	9	1192	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E	RHAG_ENST00000229810.7_Silent_p.G348G	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	389					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AGATGGCTGTCCCCAGAGAGG	0.403000													9	56					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51361469	51361469	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:51361469G>A	ENST00000360617.3	+	3	391	c.391G>A	c.(391-393)Gag>Aag	p.E131K	KLK3_ENST00000595952.1_Missense_Mutation_p.E88K|KLK3_ENST00000326003.2_Missense_Mutation_p.E131K|KLK3_ENST00000597483.1_Missense_Mutation_p.E88K|KLK3_ENST00000593997.1_Missense_Mutation_p.E131K			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	131	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		AGAGCCTGCCGAGCTCACGGA	0.612000													31	70					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18301532	18301532	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:18301532G>A	ENST00000441493.2	-	26	4247	c.3895C>T	c.(3895-3897)Caa>Taa	p.Q1299*		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1299	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTTTGGCTTTGGACAGGGAGA	0.632000													21	162					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21011497	21011497	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:21011497G>A	ENST00000247986.2	-	10	2346	c.2036C>T	c.(2035-2037)tCg>tTg	p.S679L	KIF17_ENST00000400463.3_Missense_Mutation_p.S679L|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Missense_Mutation_p.S579L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	679					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GGCCACTTCCGAGGCCAGATC	0.677000													6	22					0	0	1	0	0
CCNDBP1	23582	broad.mit.edu	37	15	43484963	43484963	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr15:43484963A>T	ENST00000300213.4	+	9	1125	c.883A>T	c.(883-885)Ata>Tta	p.I295L	EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_Missense_Mutation_p.I134L	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	295	Interaction with RPLP0.|Interaction with TCF3.				cell cycle	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		GGCTCTGAGCATATATCCACC	0.398000													36	108					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111134963	111134963	+	Silent	SNP	A	A	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr13:111134963A>G	ENST00000360467.5	+	32	3165	c.2859A>G	c.(2857-2859)ggA>ggG	p.G953G		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	953	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GATTTTTCGGAATACCCGGTC	0.542000													60	75					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558729	129558729	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:129558729G>A	ENST00000422113.2	-	9	3317	c.2991C>T	c.(2989-2991)ttC>ttT	p.F997F	TMEM132D_ENST00000389441.4_Silent_p.F535F	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	997						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TACTTTCCTCGAAATCCATGC	0.468000													46	130					0	0	1	0	0
RHBDL3	162494	broad.mit.edu	37	17	30615924	30615924	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:30615924C>T	ENST00000269051.4	+	4	422	c.408C>T	c.(406-408)atC>atT	p.I136I	RHBDL3_ENST00000536287.1_Silent_p.I38I|RHBDL3_ENST00000538145.1_Silent_p.I128I	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	136					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				AGCGACTTATCCGCCATGTGG	0.602000													38	57					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70891749	70891749	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:70891749G>A	ENST00000393567.2	-	72	12304	c.12154C>T	c.(12154-12156)Cat>Tat	p.H4052Y		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4052										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGCCCAGATGGAAAGGTGTG	0.468000													19	45					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18490237	18490237	+	Missense_Mutation	SNP	G	G	A	rs149616744		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:18490237G>A	ENST00000440756.2	-	11	2404	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C	PSD3_ENST00000428502.2_Missense_Mutation_p.R95C|PSD3_ENST00000523619.1_Missense_Mutation_p.R701C|PSD3_ENST00000286485.8_Missense_Mutation_p.R232C|PSD3_ENST00000327040.8_Missense_Mutation_p.R766C			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	767					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTTCCAATACGACTGATGGTC	0.398000													31	58					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110246110	110246110	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:110246110C>T	ENST00000418703.2	-	2	644	c.550G>A	c.(550-552)Gag>Aag	p.E184K	TRPV4_ENST00000544971.1_Missense_Mutation_p.E184K|TRPV4_ENST00000541794.1_Missense_Mutation_p.E184K|TRPV4_ENST00000537083.1_Missense_Mutation_p.E184K|TRPV4_ENST00000346520.2_Missense_Mutation_p.E184K|TRPV4_ENST00000536838.1_Missense_Mutation_p.E150K|TRPV4_ENST00000261740.2_Missense_Mutation_p.E184K|TRPV4_ENST00000392719.2_Missense_Mutation_p.E184K	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	184					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCTCGAAACTCCTCATCAGTT	0.612000													25	46					0	0	1	0	0
DPPA3P2	400206	broad.mit.edu	37	14	36841194	36841194	+	RNA	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:36841194G>A	ENST00000557188.1	+	0	825																											CAATAATTTTGATAATGAGTT	0.289000													3	25					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136699632	136699632	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:136699632C>T	ENST00000445907.2	+	3	548	c.20C>T	c.(19-21)tCc>tTc	p.S7F	AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.S7F|CHRM2_ENST00000402486.3_Missense_Mutation_p.S7F|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.S7F|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.S7F|CHRM2_ENST00000401861.1_Missense_Mutation_p.S7F	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	7					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCAACAAACTCCTCTAACAAT	0.368000													21	106					0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150276384	150276384	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:150276384C>T	ENST00000446148.2	-	7	892	c.465G>A	c.(463-465)gaG>gaA	p.E155E	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Silent_p.E139E|ZNF300_ENST00000394226.2_Silent_p.E139E|ZNF300_ENST00000418587.2_Silent_p.E103E	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTCTTGATTCTCTAGAAATC	0.408000													23	124					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106927045	106927045	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr10:106927045C>T	ENST00000369701.3	+	13	2066	c.1839C>T	c.(1837-1839)ttC>ttT	p.F613F		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	613						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATGTCTGGTTCCTAGACTGGG	0.448000													23	36					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76753956	76753956	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr18:76753956G>A	ENST00000536229.3	+	1	2275	c.1566G>A	c.(1564-1566)tcG>tcA	p.S522S	SALL3_ENST00000537592.2_Silent_p.S655S|SALL3_ENST00000575389.2_Silent_p.S655S			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	655					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGCTAGACTCGATGCAAACGT	0.642000													6	47					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169391536	169391536	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:169391536C>T	ENST00000545005.1	-	4	640	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.E45K|CCDC181_ENST00000367806.3_Missense_Mutation_p.E45K					coiled-coil domain containing 181																		ATATTCTCTTCCTTCTCACAA	0.353000													11	57					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559139	1559139	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr20:1559139G>A	ENST00000381605.4	-	2	342	c.278C>T	c.(277-279)tCa>tTa	p.S93L	SIRPB1_ENST00000262929.5_Missense_Mutation_p.S92L|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.S93L|SIRPB1_ENST00000381603.3_Missense_Mutation_p.S93L	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	93	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TGTGAGTTCTGAAACAGTTGT	0.507000													35	165					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325852	158325852	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:158325852G>A	ENST00000444681.2	+	3	857	c.564G>A	c.(562-564)gtG>gtA	p.V188V	CD1E_ENST00000368160.3_Silent_p.V287V|CD1E_ENST00000434258.1_Silent_p.V285V|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368156.1_Silent_p.V197V|CD1E_ENST00000368166.3_Silent_p.V98V|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368165.3_Silent_p.V197V|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368167.3_Silent_p.V287V|CD1E_ENST00000452291.2_Silent_p.V98V	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	287					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CCTGTCGGGTGAAACACAGCA	0.562000													12	104					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144943440	144943440	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:144943440G>A	ENST00000525985.1	-	2	4053	c.3982C>T	c.(3982-3984)Cca>Tca	p.P1328S				P58107	EPIPL_HUMAN	epiplakin 1	1328						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TAGGGATCTGGGTACCCGGCC	0.672000													36	111					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89981652	89981652	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:89981652C>T	ENST00000405460.2	+	29	6426	c.6330C>T	c.(6328-6330)atC>atT	p.I2110I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2110					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AACTAATTATCATTGCCAATG	0.413000													7	36					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139915144	139915144	+	Splice_Site	SNP	A	A	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:139915144A>G	ENST00000265662.5	-	9	1413		c.e9+1		ABCA2_ENST00000492260.1_Splice_Site|ABCA2_ENST00000341511.6_Splice_Site|ABCA2_ENST00000371605.3_Splice_Site			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2						cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCGCCCACCTACCGGTTGTTG	0.667000													15	35					0	0	1	0	0
STK40	83931	broad.mit.edu	37	1	36821017	36821017	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:36821017G>A	ENST00000359297.2	-	4	367	c.360C>T	c.(358-360)atC>atT	p.I120I	STK40_ENST00000373132.3_Silent_p.I120I|STK40_ENST00000373130.3_Silent_p.I125I|STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373129.3_Silent_p.I120I			Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	120	Protein kinase.					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)				TGTCCTCAACGATTTCACAGG	0.592000													115	255					0	0	1	0	0
ZCCHC13	389874	broad.mit.edu	37	X	73524122	73524122	+	Silent	SNP	C	C	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chrX:73524122C>T	ENST00000339534.2	+	1	98	c.21C>T	c.(19-21)ttC>ttT	p.F7F		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	7							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						AGGATTTCTTCGCGTGTGGAC	0.627000													15	6					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37346257	37346257	+	Silent	SNP	G	G	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:37346257G>A	ENST00000373091.3	-	3	544	c.528C>T	c.(526-528)acC>acT	p.T176T	GRIK3_ENST00000373093.4_Silent_p.T176T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	176					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CATAGACCACGGTGGCTGACC	0.607000													148	370					0	0	1	0	0
RP11-431K24.1	0	broad.mit.edu	37	1	8114345	8114346	+	RNA	INS	-	-	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:8114345_8114346insT	ENST00000445300.1	+	0	815																											ACTAGTCtttcttttttttttt	0.386													4	3	---	---	---	---					
ESPNP	284729	broad.mit.edu	37	1	17038327	17038327	+	RNA	DEL	A	A	-	rs59855586		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:17038327delA	ENST00000492551.1	-	0	194					NR_026567.1																						tgaggcacagagagctaagat	0.507													5	5	---	---	---	---					
RP5-930J4.2	0	broad.mit.edu	37	1	21059405	21059405	+	RNA	DEL	A	A	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:21059405delA	ENST00000436642.1	+	0	33																											TGACATCTGCAGGAAACCCCC	0.662													2	4	---	---	---	---					
RP11-417J8.1	0	broad.mit.edu	37	1	142553422	142553423	+	RNA	INS	-	-	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:142553422_142553423insA	ENST00000445662.1	+	0	130_131																											tattaagatggaaaaaaataag	0.361													3	6	---	---	---	---					
RP11-417J8.2	0	broad.mit.edu	37	1	142583243	142583243	+	RNA	DEL	C	C	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:142583243delC	ENST00000415979.2	-	0	167																											aaatctaaaacaagagagcaa	0.294													2	4	---	---	---	---					
LOC101927209	101927209	broad.mit.edu	37	1	142657355	142657356	+	RNA	INS	-	-	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:142657355_142657356insT	ENST00000369381.2	-	0	2507				RP11-417J8.3_ENST00000426408.1_lincRNA																							TGCCTGTTCCCTGGCCCCCTCC	0.589													4	5	---	---	---	---					
LOC101927209	101927209	broad.mit.edu	37	1	142680819	142680820	+	RNA	INS	-	-	A	rs150990366		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:142680819_142680820insA	ENST00000369381.2	-	0	2507																											GTGAAGCTAtgaaatgccttca	0.396													3	3	---	---	---	---					
RP11-423O2.5	0	broad.mit.edu	37	1	142809179	142809180	+	RNA	INS	-	-	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:142809179_142809180insT	ENST00000423385.1	-	0	88																											gatgatgagcattttttcatgt	0.366													4	6	---	---	---	---					
RP11-782C8.2	0	broad.mit.edu	37	1	143163583	143163583	+	RNA	DEL	G	G	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:143163583delG	ENST00000412204.2	-	0	2503				RP11-782C8.1_ENST00000438000.1_lincRNA|RP11-782C8.4_ENST00000424474.2_lincRNA																							atttcagaaagccagttttca	0.413													2	4	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs67257307		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													8	7	---	---	---	---					
LOC101928650	101928650	broad.mit.edu	37	1	170463673	170463673	+	RNA	DEL	C	C	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:170463673delC	ENST00000416416.1	-	0	113				RP11-576I22.2_ENST00000446102.1_RNA|RP11-576I22.2_ENST00000456083.1_RNA																							TGGCTCCCATCCCACAGCCTC	0.463													2	4	---	---	---	---					
RGS16	6004	broad.mit.edu	37	1	182569449	182569451	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr1:182569449_182569451delAGG	ENST00000367558.5	-	5	733_735	c.585_587delCCT	c.(583-588)agg>ag	p.SL195del		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	195					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						GGGCTCGTCCAGGCTGCAGCTGG	0.640													9	217	---	---	---	---					
AC068490.2	0	broad.mit.edu	37	2	22633010	22633011	+	RNA	INS	-	-	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:22633010_22633011insG	ENST00000450551.1	-	0	70				AC096570.2_ENST00000419013.1_lincRNA																							AAGAAAAAAAAAATGCTTCGAG	0.302													2	4	---	---	---	---					
LOC101929418	101929418	broad.mit.edu	37	2	30321643	30321643	+	RNA	DEL	G	G	-	rs11315651		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:30321643delG	ENST00000453606.1	-	0	109																											AGCAGGATGTGGACCATAATA	0.438													4	2	---	---	---	---					
LOC728730	728730	broad.mit.edu	37	2	39723158	39723161	+	RNA	DEL	TTCT	TTCT	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:39723158_39723161delTTCT	ENST00000449569.1	+	0	282				AC007246.3_ENST00000422128.1_RNA|AC007246.3_ENST00000426083.1_RNA|AC007246.3_ENST00000446698.1_RNA|AC007246.3_ENST00000443038.1_RNA	NR_037875.1																						ctttcttcccttctttctttcttt	0.466													2	4	---	---	---	---					
LOC101927043	101927043	broad.mit.edu	37	2	47557000	47557000	+	RNA	DEL	A	A	-	rs79926354		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:47557000delA	ENST00000419035.1	-	0	66																		p.0?(2)|p.?(1)									AGCAAATGCTAAAAAAAATAG	0.498													3	4	---	---	---	---					
AC079807.4	0	broad.mit.edu	37	2	48293911	48293912	+	RNA	INS	-	-	G	rs34809857	by1000genomes	TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:48293911_48293912insG	ENST00000447571.1	-	0	240																		p.0?(2)									ctgctccccccccccaaactta	0.436													4	2	---	---	---	---					
LOC730100	730100	broad.mit.edu	37	2	51970390	51970393	+	RNA	DEL	AGAG	AGAG	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:51970390_51970393delAGAG	ENST00000440698.1	+	0	753																											ACACAGGCACagagagagagagag	0.353													2	4	---	---	---	---					
LINC01185	400957	broad.mit.edu	37	2	61103580	61103580	+	RNA	DEL	A	A	-	rs75940647		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:61103580delA	ENST00000452343.1	-	0	83					NR_033980.1																						cgtctcttctaaaaaaaaaaa	0.532													2	4	---	---	---	---					
LINC01087	101927994	broad.mit.edu	37	2	132405729	132405730	+	RNA	INS	-	-	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:132405729_132405730insG	ENST00000431979.1	+	0	2154																											TTCCCGCACACGTGGTGGCAAA	0.535													3	5	---	---	---	---					
LOC101928273	101928273	broad.mit.edu	37	2	138649472	138649472	+	RNA	DEL	A	A	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:138649472delA	ENST00000458351.1	-	0	171																											ctgtaatcccagcactttggg	0.493													2	4	---	---	---	---					
AC092684.1	0	broad.mit.edu	37	2	165096054	165096054	+	RNA	DEL	T	T	-	rs35683644		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr2:165096054delT	ENST00000429636.1	-	0	196																											gggttttttatttttttttcc	0.343													2	4	---	---	---	---					
SUCLG2-AS1	101927111	broad.mit.edu	37	3	67923879	67923879	+	RNA	DEL	T	T	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:67923879delT	ENST00000482677.1	+	0	1553																											tagaaataacttagttatttc	0.308													2	4	---	---	---	---					
LINC00971	440970	broad.mit.edu	37	3	84740332	84740332	+	RNA	DEL	G	G	-	rs60613380		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:84740332delG	ENST00000484892.1	-	0	2354					NR_033860.1																						ctccatctcagaaaaaaaaaa	0.418													2	4	---	---	---	---					
LINC00971	440970	broad.mit.edu	37	3	84910988	84910988	+	RNA	DEL	G	G	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:84910988delG	ENST00000484892.1	-	0	1111					NR_033860.1																						TAAAGATAATGGCACATATCT	0.368													2	4	---	---	---	---					
LOC101927056	101927056	broad.mit.edu	37	3	125603729	125603729	+	RNA	DEL	A	A	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:125603729delA	ENST00000468859.1	-	0	1456																											ccttggtgctaaaaaaaaatt	0.408													2	4	---	---	---	---					
FAM86JP	100125556	broad.mit.edu	37	3	125639090	125639090	+	RNA	DEL	C	C	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:125639090delC	ENST00000485843.1	+	0	251					NR_024251.1																						ctcctgttttcccaccgtccc	0.637													2	4	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195690462	195690463	+	RNA	INS	-	-	G			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr3:195690462_195690463insG	ENST00000427841.1	-	0	2203					NR_003264.2																						catgcgcaacaggggactgtaa	0.366													3	3	---	---	---	---					
RP11-548L20.1	0	broad.mit.edu	37	4	34220059	34220060	+	RNA	INS	-	-	A			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:34220059_34220060insA	ENST00000514877.1	-	0	265																											aaatcagtaagaaaaaaaaaag	0.337													4	4	---	---	---	---					
RP11-25H12.1	0	broad.mit.edu	37	4	66888943	66888943	+	RNA	DEL	A	A	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:66888943delA	ENST00000508572.1	+	0	463																											aatggccattaaaaaaaaaaa	0.353													2	4	---	---	---	---					
LOC256880	256880	broad.mit.edu	37	4	100950974	100950974	+	RNA	DEL	G	G	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:100950974delG	ENST00000507494.1	+	0	567				RP11-15B17.1_ENST00000501976.2_RNA|RP11-15B17.1_ENST00000515026.1_RNA																							gttcatgataggcagttcagg	0.408													2	4	---	---	---	---					
LOC101929468	101929468	broad.mit.edu	37	4	105416094	105416095	+	RNA	DEL	CT	CT	-	rs62329623		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:105416094_105416095delCT	ENST00000500179.1	+	0	96																											tctctctcccctctctctctct	0.634													2	4	---	---	---	---					
SPATA5	166378	broad.mit.edu	37	4	123854603	123854625	+	Frame_Shift_Del	DEL	TATGGAAATTAATGAAGAAGAAC	TATGGAAATTAATGAAGAAGAAC	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:123854603_123854625delTATGGAAATTAATGAAGAAGAAC	ENST00000274008.3	+	4	525_547	c.456_478delTATGGAAATTAATGAAGAAGAAC	c.(454-480)gatgfs	p.DMEINEEEL152fs	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	152					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	p.E154D(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GTGACAAAGATATGGAAATTAATGAAGAAGAACTGACTGGTTG	0.318													10	56	---	---	---	---					
LINC01256	104355285	broad.mit.edu	37	4	133570941	133570942	+	RNA	DEL	TG	TG	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:133570941_133570942delTG	ENST00000513270.1	+	0	323																											tgtgcatgtctgtgtgtgtgtg	0.332													2	4	---	---	---	---					
RP11-285C1.2	0	broad.mit.edu	37	4	153959513	153959513	+	RNA	DEL	A	A	-	rs113513345		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:153959513delA	ENST00000515232.1	+	0	218																											agactccgtcaaaaaaaaaaa	0.408													2	4	---	---	---	---					
LOC728339	728339	broad.mit.edu	37	4	190827125	190827126	+	RNA	INS	-	-	TA	rs148029614		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr4:190827125_190827126insTA	ENST00000511785.1	-	0	231																											aaacatataagtatattttttt	0.213													2	4	---	---	---	---					
GUSBP1	728411	broad.mit.edu	37	5	21534424	21534425	+	RNA	INS	-	-	AG	rs139770873		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:21534424_21534425insAG	ENST00000607545.1	+	0	314					NR_027026.1																						ACCCAACGCGAAGAGACTCCTT	0.485													3	3	---	---	---	---					
GUSBP1	728411	broad.mit.edu	37	5	21549600	21549600	+	RNA	DEL	T	T	-	rs35527164		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr5:21549600delT	ENST00000607545.1	+	0	314					NR_027026.1																						ATTTAAAAGATTTTTAAGATA	0.274													5	1	---	---	---	---					
XXbac-BPG299F13.17	0	broad.mit.edu	37	6	31164361	31164364	+	RNA	DEL	AAAC	AAAC	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:31164361_31164364delAAAC	ENST00000606367.1	-	0	1450_1453																											ccaccgggagaaacaaacaactcc	0.510													7	2	---	---	---	---					
LOC101927640	101927640	broad.mit.edu	37	6	112594572	112594573	+	RNA	DEL	TG	TG	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr6:112594572_112594573delTG	ENST00000587816.1	+	0	111				RP11-506B6.6_ENST00000433684.2_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000590584.1_RNA|RP11-506B6.6_ENST00000590293.1_RNA|RP11-506B6.6_ENST00000585450.1_RNA|RP11-506B6.6_ENST00000588837.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000590804.1_RNA																							tgtgtgtgtctgtgtgtgtgtg	0.569													2	4	---	---	---	---					
AC093627.12	0	broad.mit.edu	37	7	186863	186864	+	RNA	INS	-	-	GC	rs58426881	by1000genomes	TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:186863_186864insGC	ENST00000467050.1	-	0	233																											GCAGGTGCCAGGCCTGAGCTGG	0.644													5	5	---	---	---	---					
COL26A1	136227	broad.mit.edu	37	7	101186468	101186469	+	RNA	INS	-	-	C	rs28674048	by1000genomes	TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:101186468_101186469insC	ENST00000313669.7	+	0	796				COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		tttttttttttctgagacggtc	0.535											OREG0018224	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
KCP	375616	broad.mit.edu	37	7	128523822	128523822	+	RNA	DEL	C	C	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:128523822delC	ENST00000476647.2	-	0	3287							Q6ZWJ8	KCP_HUMAN	kielin/chordin-like protein							extracellular region				central_nervous_system(1)|endometrium(3)	4						CCCTGCAGCGCCACCTGCTGG	0.617											OREG0009869|OREG0018301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model	2	4	---	---	---	---					
RBM33	155435	broad.mit.edu	37	7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccafs	p.PT571fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	571	Pro-rich.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.530													7	176	---	---	---	---					
AC006372.6	0	broad.mit.edu	37	7	157309323	157309323	+	RNA	DEL	C	C	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr7:157309323delC	ENST00000433660.1	+	0	246																											GCCAACCCCACCTGGCTTGGG	0.562													2	4	---	---	---	---					
RP11-13N12.1	0	broad.mit.edu	37	8	16565426	16565427	+	RNA	INS	-	-	AT			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:16565426_16565427insAT	ENST00000521411.2	-	0	373																											tatatacgtgcatatacacaca	0.317													2	4	---	---	---	---					
KB-1930G5.4	0	broad.mit.edu	37	8	102453311	102453312	+	RNA	DEL	TC	TC	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:102453311_102453312delTC	ENST00000519793.1	-	0	242																											tccttagccatctctctctctc	0.500													3	4	---	---	---	---					
RP11-706C16.8	0	broad.mit.edu	37	8	143873045	143873046	+	RNA	INS	-	-	ATCC	rs58639895	by1000genomes	TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr8:143873045_143873046insATCC	ENST00000510610.2	+	0	216																											ttcattcacttatccatccatc	0.446													4	3	---	---	---	---					
LINC01410	103352539	broad.mit.edu	37	9	66460027	66460027	+	RNA	DEL	T	T	-	rs112286776		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:66460027delT	ENST00000424345.1	+	0	224																											ttgggaaggcttttcacatat	0.343													4	7	---	---	---	---					
LINC01410	103352539	broad.mit.edu	37	9	66466327	66466327	+	RNA	DEL	G	G	-	rs58593495		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:66466327delG	ENST00000424345.1	+	0	960																											agcaggtccaggaatgcactt	0.483													4	8	---	---	---	---					
CTSL3P	392360	broad.mit.edu	37	9	90392422	90392424	+	RNA	DEL	AGA	AGA	-	rs150419979		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:90392422_90392424delAGA	ENST00000354530.2	+	0	425					NR_027917.1																						TTTCTCTAGCAGAAGATTTCCCC	0.517													2	4	---	---	---	---					
RP11-535M15.1	0	broad.mit.edu	37	9	99450300	99450301	+	RNA	INS	-	-	A	rs34694487		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:99450300_99450301insA	ENST00000423924.1	+	0	269																											gactccgtctcaaaaaaaaaaa	0.470													3	4	---	---	---	---					
RP11-308N19.1	0	broad.mit.edu	37	9	109344766	109344767	+	RNA	DEL	GT	GT	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:109344766_109344767delGT	ENST00000435485.1	+	0	558																											TATCAGAGGCgtgtgtgtgtgt	0.376													2	4	---	---	---	---					
RP11-65J3.3	0	broad.mit.edu	37	9	132195280	132195280	+	RNA	DEL	G	G	-	rs78423522		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:132195280delG	ENST00000436510.1	-	0	487																											GGCACAGAGAGCCTGGGAACA	0.642													3	4	---	---	---	---					
TPRN	286262	broad.mit.edu	37	9	140087025	140087027	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr9:140087025_140087027delTCC	ENST00000409012.4	-	2	1928_1930	c.1842_1844delGGA	c.(1840-1845)gaa>ga	p.EE620del	TPRN_ENST00000321773.2_In_Frame_Del_p.EE559del	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	620	Glu-rich.				sensory perception of sound	stereocilium		p.E315delE(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						ctcttcctcttcctcctcctcct	0.596													8	61	---	---	---	---					
RP11-57C13.3	0	broad.mit.edu	37	10	89418848	89418848	+	RNA	DEL	C	C	-	rs34944103		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr10:89418848delC	ENST00000354527.2	-	0	146				RP11-57C13.6_ENST00000438082.1_lincRNA																							TGTAACCTGACGATACTGTTG	0.542													3	4	---	---	---	---					
CCDC34	91057	broad.mit.edu	37	11	27363050	27363050	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr11:27363050delT	ENST00000328697.6	-	4	1327	c.654delA	c.(652-654)aafs	p.K218fs	CCDC34_ENST00000529615.1_5'UTR	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	218										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						cctttgctgctttttcctcca	0.264													2	4	---	---	---	---					
RP4-601P9.2	0	broad.mit.edu	37	12	115174857	115174858	+	RNA	DEL	GT	GT	-	rs147888391		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:115174857_115174858delGT	ENST00000551875.1	+	0	541																											gtgtgtgtgcgtgtgtgtgtgt	0.564													3	4	---	---	---	---					
RP11-148B3.2	0	broad.mit.edu	37	12	116823082	116823082	+	RNA	DEL	T	T	-	rs112282059		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr12:116823082delT	ENST00000548506.1	+	0	403																											tattattATCTTTTTTTTTTT	0.408													3	4	---	---	---	---					
RP11-146E13.4	0	broad.mit.edu	37	14	19812974	19812974	+	RNA	DEL	A	A	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:19812974delA	ENST00000548109.1	+	0	72																											TTGTATGCTGAAAAAGCCTTG	0.428													2	4	---	---	---	---					
RP11-597A11.2	0	broad.mit.edu	37	14	20150834	20150835	+	RNA	INS	-	-	A	rs144333397	by1000genomes	TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:20150834_20150835insA	ENST00000547175.1	+	0	279																											ATGTAGAGTTTAAAAAAAAATT	0.262													3	3	---	---	---	---					
RP11-589M4.3	0	broad.mit.edu	37	14	53265504	53265504	+	RNA	DEL	T	T	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr14:53265504delT	ENST00000554548.1	-	0	110																											AACCAGGTCCTAATTTCAACG	0.463													2	4	---	---	---	---					
SCAND2P	54581	broad.mit.edu	37	15	85184755	85184755	+	RNA	DEL	T	T	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr15:85184755delT	ENST00000348993.5	+	0	3021					NR_003654.2																						ctttattttattttttttgag	0.408													2	4	---	---	---	---					
RP11-279O17.3	0	broad.mit.edu	37	16	8383951	8383951	+	RNA	DEL	T	T	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:8383951delT	ENST00000564185.1	+	0	223																											tcctgccaccttgtgaagaaa	0.478													2	4	---	---	---	---					
U95743.1	0	broad.mit.edu	37	16	13850448	13850448	+	RNA	DEL	C	C	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:13850448delC	ENST00000573369.1	-	0	701																											CCAGCCTCAGCCCCCCATTGT	0.507													3	4	---	---	---	---					
HERC2P4	100289574	broad.mit.edu	37	16	32181394	32181395	+	RNA	DEL	CT	CT	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:32181394_32181395delCT	ENST00000564730.1	-	0	1021_1022																											CTTTTCTGTACTCTTACACAGC	0.272													3	4	---	---	---	---					
RP11-410D17.2	0	broad.mit.edu	37	16	58856607	58856607	+	RNA	DEL	A	A	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:58856607delA	ENST00000500117.1	+	0	679																											ctaccctgccaaaaggccccg	0.478													3	3	---	---	---	---					
RP11-410D17.2	0	broad.mit.edu	37	16	59073422	59073422	+	RNA	DEL	A	A	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr16:59073422delA	ENST00000500117.1	+	0	679																											TGAAATTGTGAAAAAAAAAAA	0.413													3	4	---	---	---	---					
MRPL45	84311	broad.mit.edu	37	17	36462576	36462576	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:36462576delG	ENST00000312513.5	+	4	600	c.439delG	c.(439-441)aafs	p.E147fs		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	147					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TATCTTTATTGAAGCTCACCT	0.333													39	120	---	---	---	---					
LINC00854	100874261	broad.mit.edu	37	17	41383176	41383177	+	RNA	INS	-	-	A	rs113021295		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:41383176_41383177insA	ENST00000433702.2	-	0	14					NR_047479.1																						ggagaaaccccatctgtactaa	0.535													4	6	---	---	---	---					
AC002117.1	0	broad.mit.edu	37	17	43234364	43234367	+	RNA	DEL	AAAC	AAAC	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr17:43234364_43234367delAAAC	ENST00000589950.1	-	0	50				AC002117.1_ENST00000452741.1_RNA																							agactctcaaaaacaaacaaacaa	0.515													2	4	---	---	---	---					
LINC00470	56651	broad.mit.edu	37	18	1294223	1294224	+	RNA	DEL	GA	GA	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr18:1294223_1294224delGA	ENST00000412816.3	-	0	307																				pancreas(1)	1						tgtatgtgtggagagagagaga	0.426													2	4	---	---	---	---					
TXNDC2	84203	broad.mit.edu	37	18	9886019	9886019	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr18:9886019delT	ENST00000584255.1	+	2	171	c.104delT	c.(103-105)ccfs	p.L35fs	TXNDC2_ENST00000357775.4_5'UTR|TXNDC2_ENST00000536353.2_5'UTR|TXNDC2_ENST00000306084.6_5'UTR|TXNDC2_ENST00000426718.3_5'UTR			Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	0					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CTTGAAGCTCTCAAATATCAC	0.438													2	4	---	---	---	---					
RP11-403A21.1	0	broad.mit.edu	37	18	21550940	21550941	+	RNA	INS	-	-	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr18:21550940_21550941insT	ENST00000582300.1	-	0	183																											tctccagctaattttttttttc	0.500													2	4	---	---	---	---					
WDR7-UA1	0	broad.mit.edu	37	18	54706020	54706021	+	RNA	INS	-	-	T			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr18:54706020_54706021insT	ENST00000592032.1	+	0	527																											GATTTCATTCCTTTTTTTTCCT	0.545													2	4	---	---	---	---					
TYK2	7297	broad.mit.edu	37	19	10473031	10473031	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:10473031delA	ENST00000525621.1	-	11	2059	c.1578delT	c.(1576-1578)gtfs	p.V526fs	TYK2_ENST00000529370.1_Frame_Shift_Del_p.V526fs|TYK2_ENST00000524462.1_Frame_Shift_Del_p.V341fs|TYK2_ENST00000264818.6_Frame_Shift_Del_p.V526fs	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	526	SH2; atypical.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CAAGTTCCCGAACGCTGGGGA	0.652													15	46	---	---	---	---					
AC007204.2	0	broad.mit.edu	37	19	20069796	20069797	+	RNA	DEL	AG	AG	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr19:20069796_20069797delAG	ENST00000592245.1	+	0	417																											cagccaaggcagagagagagag	0.470													2	4	---	---	---	---					
RP4-610C12.1	0	broad.mit.edu	37	20	29588147	29588148	+	RNA	INS	-	-	T	rs73621635		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr20:29588147_29588148insT	ENST00000432067.1	-	0	152																											attttgatgccttttttttctc	0.356													5	3	---	---	---	---					
RP4-610C12.1	0	broad.mit.edu	37	20	29588801	29588801	+	RNA	DEL	A	A	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr20:29588801delA	ENST00000432067.1	-	0	152																											ctttgttgggaaatttttgat	0.343													3	6	---	---	---	---					
RP4-614C15.3	0	broad.mit.edu	37	20	57939712	57939712	+	RNA	DEL	C	C	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr20:57939712delC	ENST00000440889.1	-	0	116																											ATGTGCTCTTCCAGCCCTGCA	0.532													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11050605	11050606	+	RNA	INS	-	-	A	rs150695624		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr21:11050605_11050606insA	ENST00000470054.1	-	0	487									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)		CCTTTGATAATATATATAAATA	0.292													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11051168	11051168	+	RNA	DEL	T	T	-	rs59377780		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr21:11051168delT	ENST00000470054.1	-	0	487									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)		agaccttttgtttttatttac	0.393													4	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11092162	11092164	+	RNA	DEL	TTG	TTG	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr21:11092162_11092164delTTG	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)		CCTAGGTTTTTTGTTGTTGtttg	0.404													4	4	---	---	---	---					
LOC101927973	101927973	broad.mit.edu	37	21	29591541	29591541	+	RNA	DEL	C	C	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr21:29591541delC	ENST00000453420.1	-	0	414																											tgagcatgggcccactgccat	0.448													2	4	---	---	---	---					
CLIC6	54102	broad.mit.edu	37	21	36042463	36042492	+	In_Frame_Del	DEL	GCGTAGAAGCGGGGGTCCCGGCGGGGGACA	GCGTAGAAGCGGGGGTCCCGGCGGGGGACA	-	rs62213790	by1000genomes	TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr21:36042463_36042492delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	ENST00000360731.3	+	1	776_805	c.776_805delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	c.(775-807)ggc>g	p.GVEAGVPAGDS259del	CLIC6_ENST00000349499.2_In_Frame_Del_p.GVEAGVPAGDS259del			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	259	13 X 10 AA tandem repeat of G-D-[SNG]- [VIM]-[DEQ]-A-[EAG]-[GDVE]-[PRG]-[LAVP].					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	p.S269G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GCGGGGGACGGCGTAGAAGCGGGGGTCCCGGCGGGGGACAGCGTAGAAGC	0.761													4	4	---	---	---	---					
BMS1P20	96610	broad.mit.edu	37	22	22674617	22674617	+	RNA	DEL	T	T	-	rs112532259		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:22674617delT	ENST00000426066.1	+	0	1300					NR_027293.1																						gcccggctaattttttttttt	0.527													2	4	---	---	---	---					
ZDHHC8P1	150244	broad.mit.edu	37	22	23741229	23741229	+	RNA	DEL	T	T	-	rs35996657		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:23741229delT	ENST00000255890.4	-	0	1263																											CAGTCCTCAGTTTCCCCACTA	0.637													2	4	---	---	---	---					
LOC100506679	100506679	broad.mit.edu	37	22	43435162	43435162	+	RNA	DEL	C	C	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:43435162delC	ENST00000443063.1	+	0	572																											ccaacatggtcaaaaccccat	0.532													2	4	---	---	---	---					
LOC100506679	100506679	broad.mit.edu	37	22	43435341	43435342	+	RNA	INS	-	-	A	rs60147462		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:43435341_43435342insA	ENST00000443063.1	+	0	751_752																											tctgtctcgggaaaaaaaaaaa	0.465													2	4	---	---	---	---					
LOC284930	284930	broad.mit.edu	37	22	48077422	48077422	+	RNA	DEL	A	A	-			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chr22:48077422delA	ENST00000423737.1	+	0	387																											GTGATGGGAGAAGGGCCATAG	0.448													2	4	---	---	---	---					
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	RNA	INS	-	-	A	rs149262205		TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174																											acctgtcccttaaaaaaaaaaa	0.455													5	2	---	---	---	---					
RAP2C-AS1	101928578	broad.mit.edu	37	X	131383954	131383955	+	RNA	INS	-	-	C			TCGA-EB-A6QY-01A-12D-A32N-08	TCGA-EB-A6QY-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a5ba9e-34aa-42cc-9f5e-7edadc1b75b9	f30d008b-2bde-41f5-b2fe-15a2f52ca84a	g.chrX:131383954_131383955insC	ENST00000441399.1	+	0	424				RP5-842K24.2_ENST00000421483.1_RNA																							gccgtctgtcacccctttcttt	0.574													2	4	---	---	---	---					
