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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PIGV	55650	broad.mit.edu	37	1	27120878	27120878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:27120878C>T	uc001bmz.3	+	2	716	c.353C>T	c.(352-354)tCg>tTg	p.S118L	PIGV_uc001bna.3_Missense_Mutation_p.S118L|PIGV_uc010ofg.2_Intron	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 2, mRNA.	118					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		CTGCTGATTTCGGTAGCATCA	0.507000														40			12		0	0	6.40141e-05	0	0
OR4D1	26689	broad.mit.edu	37	17	56233041	56233041	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:56233041A>C	uc010wno.2	+	0	527	c.527A>C	c.(526-528)aAc>aCc	p.N176T	MSX2P1_uc002ivn.3_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						ATCCTAGATAACTTCTACTGT	0.532000														48			14		0	0	0.000422831	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457018	110457018	+	Silent	SNP	G	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:110457018G>T	uc003yne.3	+	37	5024	c.4920G>T	c.(4918-4920)ctG>ctT	p.L1640L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1640	IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.V1639I(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTACAACCTGGGCACTGCTA	0.403000										HNSCC(38;0.096)				213			51		3.31993e-32	4.7714e-31	0.000781405	1	0
ZNF225	7768	broad.mit.edu	37	19	44635207	44635207	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:44635207C>T	uc002oyj.1	+	4	683	c.440C>T	c.(439-441)cCt>cTt	p.P147L	ZNF225_uc010ejf.1_Missense_Mutation_p.P147L	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	Homo sapiens zinc finger protein 225 (ZNF225), mRNA.	147				RQKP -> KTET (in Ref. 1; AAF04107).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AGACAGAAACCTTCTGAGGGT	0.413000														142			19		0	0	0.00074312	0	0
ZBBX	79740	broad.mit.edu	37	3	167000208	167000208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:167000208G>A	uc011bpc.2	-	19	2409	c.2072C>T	c.(2071-2073)tCa>tTa	p.S691L	ZBBX_uc003feq.3_Missense_Mutation_p.S623L|ZBBX_uc003fep.3_Missense_Mutation_p.S652L	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	652						intracellular	zinc ion binding	p.D690E(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATGAGAGGATGAAAGGCAACT	0.353000														181			31		0	0	0.000491102	0	0
UGT2B15	7366	broad.mit.edu	37	4	69512977	69512977	+	Missense_Mutation	SNP	C	T	T	rs146368165	byFrequency	TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:69512977C>T	uc021xow.1	-	5	1596	c.1438G>A	c.(1438-1440)Gca>Aca	p.A480T		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	480					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TTGTGAGCTGCGACTCGAAGG	0.478000														93			12		0	0	6.40141e-05	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86522373	86522373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:86522373C>T	uc011kha.2	-	19	2914	c.2729G>A	c.(2728-2730)gGa>gAa	p.G910E	KIAA1324L_uc003uie.3_Missense_Mutation_p.G743E|KIAA1324L_uc011kgz.2_Missense_Mutation_p.G796E|KIAA1324L_uc003uif.2_Missense_Mutation_p.G662E	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	910						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CAAAGAAATTCCTTTAATGCA	0.398000														150			17		0	0	0.000375601	0	0
FOSL2	2355	broad.mit.edu	37	2	28631669	28631669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:28631669G>A	uc002rma.3	+	2	1207	c.398G>A	c.(397-399)aGg>aAg	p.R133K	FOSL2_uc021vfg.1_Missense_Mutation_p.R108K|FOSL2_uc010ymi.2_Missense_Mutation_p.R94K	NM_005253	NP_005244	P15408	FOSL2_HUMAN	Homo sapiens FOS-like antigen 2 (FOSL2), mRNA.	133					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CGGCGGGAGAGGAACAAGCTG	0.582000														21			4		0	0	3.59834e-05	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910836	230910836	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:230910836G>A	uc002vqd.2	-	3	1465	c.1006C>T	c.(1006-1008)Cac>Tac	p.H336Y	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.H336Y|SLC16A14_uc002vqf.3_Missense_Mutation_p.H336Y	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	336						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TCTGGGAGGTGAATGAAGGGG	0.403000														40			8		0	0	0.000274275	0	0
DPPA3	359787	broad.mit.edu	37	14	36840930	36840930	+	Silent	SNP	G	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr14:36840930G>T	uc001wtp.3	+	0	561	c.312G>T	c.(310-312)ctG>ctT	p.L104L		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	104						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		ACATGTTACTGGGCGGAGTTC	0.458000														44			5		0.000602214	0.0083971	0.000602214	1	0
ANGPT1	284	broad.mit.edu	37	8	108315569	108315569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:108315569C>T	uc003ymn.3	-	4	1303	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	ANGPT1_uc011lhv.2_Missense_Mutation_p.E79K|ANGPT1_uc003ymo.3_Missense_Mutation_p.E278K|ANGPT1_uc003ymp.4_Missense_Mutation_p.E78K	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	279	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GGTTTCTCTTCCTCTCTTTTT	0.308000														78			12		0	0	0.00010058	0	0
CASC3	22794	broad.mit.edu	37	17	38318286	38318286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:38318286G>A	uc010cwt.1	+	4	783	c.488G>A	c.(487-489)gGt>gAt	p.G163D	CASC3_uc010cws.1_Missense_Mutation_p.G163D|CASC3_uc002hue.3_Missense_Mutation_p.G163D	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	163	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding	p.V162V(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AACAAAGTGGGTAAAAAGGGC	0.463000														31			10		0	0	0.000442599	0	0
PDE10A	10846	broad.mit.edu	37	6	165756929	165756929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr6:165756929G>A	uc003qun.3	-	19	2263	c.2018C>T	c.(2017-2019)cCc>cTc	p.P673L	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.P603L|PDE10A_uc003quo.3_Missense_Mutation_p.P683L	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	673					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TTTTGTAACGGGCCACAGTTT	0.388000														55			9		0	0	0.000274275	0	0
EBF2	64641	broad.mit.edu	37	8	25708118	25708118	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:25708118C>T	uc003xes.2	-	14	1953	c.1688G>A	c.(1687-1689)gGa>gAa	p.G563E	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	563					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.G563R(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		ACCTCTGAATCCATTTCCATT	0.488000														79			17		0	0	0.000175454	0	0
PTPRH	5794	broad.mit.edu	37	19	55718140	55718140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:55718140C>T	uc002qjq.3	-	2	342	c.269G>A	c.(268-270)gGa>gAa	p.G90E	PTPRH_uc010esv.3_Missense_Mutation_p.G90E|PTPRH_uc002qjs.2_Missense_Mutation_p.G97E	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	90	Fibronectin type-III 1.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGACCCGGGTCCAAGGCCATC	0.542000														56			9		0	0	0.000274275	0	0
APOB	338	broad.mit.edu	37	2	21231507	21231507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:21231507G>A	uc002red.3	-	25	8361	c.8233C>T	c.(8233-8235)Cac>Tac	p.H2745Y		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2745					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)	TGTGAGATGTGGGGAAGCTGG	0.393000														420			75		0	0	0.000781405	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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					60			14		0	0	0.000308642	0	0
SORBS2	8470	broad.mit.edu	37	4	186548051	186548051	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:186548051C>T	uc003iyg.3	-	11	1231	c.1199G>A	c.(1198-1200)gGa>gAa	p.G400E	SORBS2_uc003iyh.3_Missense_Mutation_p.G537E|SORBS2_uc011ckw.2_Missense_Mutation_p.G374E|SORBS2_uc003iyi.3_Missense_Mutation_p.G444E|SORBS2_uc011ckx.2_Missense_Mutation_p.G379E|SORBS2_uc003iyk.3_Missense_Mutation_p.G357E|SORBS2_uc003iym.3_Missense_Mutation_p.G386E|SORBS2_uc003iyl.3_Missense_Mutation_p.G286E|SORBS2_uc003iyn.1_Missense_Mutation_p.G404E|SORBS2_uc011cky.1_Missense_Mutation_p.G349E|SORBS2_uc011cku.2_Missense_Mutation_p.G205E|SORBS2_uc011ckv.2_Missense_Mutation_p.G190E|SORBS2_uc003iyd.3_Missense_Mutation_p.G512E|SORBS2_uc003iye.3_Missense_Mutation_p.G386E|SORBS2_uc003iya.3_Missense_Mutation_p.G333E|SORBS2_uc003iyb.3_Missense_Mutation_p.G286E|SORBS2_uc003iyc.3_Missense_Mutation_p.G266E|SORBS2_uc003iyf.3_Missense_Mutation_p.G349E|SORBS2_uc003iyo.1_Missense_Mutation_p.G262E	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	286						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGTGCTTGATCCTGGGAGGTC	0.512000														91			15		0	0	0.000308642	0	0
PARP12	64761	broad.mit.edu	37	7	139757831	139757831	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:139757831C>T	uc003vvl.1	-	1	1204	c.330G>A	c.(328-330)aaG>aaA	p.K110K	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	110						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TCCTACAGTTCTTCCTGCAAA	0.458000														76			8		0	0	0.000442599	0	0
PTCHD2	57540	broad.mit.edu	37	1	11595556	11595556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:11595556C>T	uc001ash.4	+	19	3809	c.3671C>T	c.(3670-3672)aCc>aTc	p.T1224I		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1224					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)		CTGGTGGTGACCATCATGTAC	0.642000														59			9		0	0	0.000442599	0	0
THRB	7068	broad.mit.edu	37	3	24231676	24231676	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:24231676G>A	uc003ccz.4	-	5	692	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F	THRB_uc010hfe.3_Missense_Mutation_p.L58F|THRB_uc003ccy.4_Missense_Mutation_p.L58F|THRB_uc003ccx.4_Missense_Mutation_p.L58F|THRB_uc003cdc.3_Missense_Mutation_p.L53F|THRB_uc003cdd.3_Missense_Mutation_p.L53F|THRB_uc003cde.1_Missense_Mutation_p.L53F|THRB_uc021wuc.1_Missense_Mutation_p.L53F	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	58	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCTGGATGAGATGTGGCGAC	0.498000														71			6		0	0	0.000157383	0	0
KANK4	163782	broad.mit.edu	37	1	62740493	62740493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:62740493C>T	uc001dah.4	-	2	660	c.283G>A	c.(283-285)Gtg>Atg	p.V95M	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	95								p.V95V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TCCCTTGGCACCACGGGAGAC	0.607000														62			25		0	0	0.000375601	0	0
CLMP	79827	broad.mit.edu	37	11	122955359	122955359	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:122955359C>T	uc001pyt.3	-	2	608	c.249G>A	c.(247-249)gtG>gtA	p.V83V		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	Homo sapiens CXADR-like membrane protein (CLMP), mRNA.	83	Ig-like C2-type 1.					integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						AAGCAAAGGCCACTCGGCCCT	0.507000														52			9		0	0	0.000442599	0	0
OR51B5	282763	broad.mit.edu	37	11	5363896	5363896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:5363896G>A	uc001map.1	-	0	859	c.859C>T	c.(859-861)Cct>Tct	p.P287S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.P287S	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGTTATAGGATTCATTAGT	0.393000														49			5		0	0	3.59834e-05	0	0
ACSF2	80221	broad.mit.edu	37	17	48549854	48549854	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:48549854C>T	uc010wmm.1	+	12	1568	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	ACSF2_uc002iqu.2_Silent_p.I463I|ACSF2_uc010wml.1_Silent_p.I420I|ACSF2_uc010wmn.1_Silent_p.I450I|ACSF2_uc010wmo.1_Silent_p.I303I|ACSF2_uc010dbt.1_Intron	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	463					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGCTGTGCATCCGAGGGTACT	0.602000														21			11		0	0	6.40141e-05	0	0
CPQ	10404	broad.mit.edu	37	8	97892129	97892129	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:97892129G>T	uc003yhw.3	+	3	911	c.745G>T	c.(745-747)Ggg>Tgg	p.G249W	CPQ_uc010mbe.2_Missense_Mutation_p.G249W	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	Homo sapiens plasma glutamate carboxypeptidase (PGCP), mRNA.	249					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										GGCTTCTCATGGGATCAAAAT	0.453000														199			8		0.000673444	0.00932853	0.000673444	1	0
OR8D2	283160	broad.mit.edu	37	11	124189545	124189545	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:124189545G>A	uc010sah.2	-	0	549	c.549C>T	c.(547-549)ccC>ccT	p.P183P		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GAGTCAATAAGGGGAGAATAT	0.448000														57			5		0	0	0.000602214	0	0
ZNF506	440515	broad.mit.edu	37	19	19906068	19906068	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:19906068A>G	uc010eci.2	-	3	776	c.628T>C	c.(628-630)Tat>Cat	p.Y210H	ZNF506_uc021urk.1_Non-coding_Transcript|ZNF506_uc002noh.3_Missense_Mutation_p.Y178H	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	Homo sapiens zinc finger protein 506 (ZNF506), transcript variant 1, mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						GACTGCTTATAGGCTTTACCA	0.373000														22			11		0	0	6.40141e-05	0	0
LIM2	3982	broad.mit.edu	37	19	51883823	51883823	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:51883823C>T	uc002pwl.2	-	3	566	c.522G>A	c.(520-522)ggG>ggA	p.G174G	LIM2_uc002pwm.2_Silent_p.G132G	NM_030657	NP_085915	P55344	LMIP_HUMAN	Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA.	132					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens	p.G174K(1)		endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		AGCGCCAGTCCCCAAAGCGGC	0.632000														76			16		0	0	0.000132079	0	0
SDHAP1	255812	broad.mit.edu	37	3	195692347	195692347	+	Missense_Mutation	SNP	G	A	A	rs62282794	by1000genomes	TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:195692347G>A	uc003fvy.3	-	2	310	c.196C>T	c.(196-198)Cac>Tac	p.H66Y	SDHAP1_uc003fvx.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		TTCCTCCAGTGCTCCTCAAAG	0.572000														25			5		0	0	3.59834e-05	0	0
MOV10L1	54456	broad.mit.edu	37	22	50584155	50584155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr22:50584155G>A	uc003bjj.3	+	18	2626	c.2543G>A	c.(2542-2544)gGa>gAa	p.G848E	MOV10L1_uc003bjk.4_Missense_Mutation_p.G848E|MOV10L1_uc011arp.2_Missense_Mutation_p.G828E|MOV10L1_uc003bjl.3_5'Flank	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	848					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding	p.G848*(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGCAGAGACGGAGAAGACATC	0.498000														80			12		0	0	0.00010058	0	0
DDB1	1642	broad.mit.edu	37	11	61094298	61094298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:61094298G>A	uc001nrc.4	-	4	843	c.617C>T	c.(616-618)cCt>cTt	p.P206L	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.P206L|DDB1_uc010rlg.1_Non-coding_Transcript|DDB1_uc001nrd.2_Missense_Mutation_p.P206L|DDB1_uc009ynl.1_Missense_Mutation_p.P93L	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	206	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGTTTCCAAGGGCCCTTATT	0.517000								Nucleotide excision repair (NER)						168			22		0	0	0.000878237	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021673	51021673	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:51021673G>A	uc002pss.3	-	2	1434	c.1297C>T	c.(1297-1299)Cag>Tag	p.Q433*		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	433	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CACGTGTACTGGCCCGTGTCC	0.677000														57			7		0	0	0.000442599	0	0
SAA1	6288	broad.mit.edu	37	11	18290771	18290771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:18290771G>A	uc021qem.1	+	3	222	c.121G>A	c.(121-123)Gac>Aac	p.D41N	SAA1_uc021qen.1_Missense_Mutation_p.D41N|SAA1_uc021qeo.1_Missense_Mutation_p.D41N	NM_001178006	NP_954630	P02735	SAA_HUMAN	Homo sapiens serum amyloid A1 (SAA1), transcript variant 3, mRNA.	41					acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGCCTACTCTGACATGAGAGA	0.527000														43			6		0	0	0.000157383	0	0
ANK2	287	broad.mit.edu	37	4	114279286	114279286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:114279286C>T	uc003ibe.4	+	37	9612	c.9512C>T	c.(9511-9513)tCa>tTa	p.S3171L	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S3186L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3138					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTTTCAGAATCAAAAGAAACA	0.478000														33			7		0	0	8.12818e-05	0	0
OR13F1	138805	broad.mit.edu	37	9	107267206	107267206	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr9:107267206C>T	uc011lvm.2	+	0	663	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATGCATTTATCCTCGCCAGTA	0.473000														110			6		0	0	3.59834e-05	0	0
SLC25A13	10165	broad.mit.edu	37	7	95761116	95761117	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:95761116_95761117GG>AA	uc003uog.4	-	14	1723_1724	c.1532_1533CC>TT	c.(1531-1533)tcc>tTT	p.S511F	SLC25A13_uc003uof.4_Missense_Mutation_p.S510F|SLC25A13_uc011kik.2_Missense_Mutation_p.S402F	NM_001160210	NP_001153682	Q9UJS0	CMC2_HUMAN	Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	510					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CATTTGCAAAGGAAGCCTTCAC	0.515000														35			9		0	0	6.4e-05	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839230	100839230	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:100839230G>A	uc003uyc.3	-	6	1190	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	MOGAT3_uc010lhr.3_Silent_p.L274L	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	341					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCCAGGCCTAGATGAAGGTGA	0.602000														66			9		0	0	0.000442599	0	0
KAT6B	23522	broad.mit.edu	37	10	76729810	76729810	+	Silent	SNP	A	G	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr10:76729810A>G	uc001jwn.1	+	5	1372	c.879A>G	c.(877-879)agA>agG	p.R293R	KAT6B_uc001jwm.1_Silent_p.R293R|KAT6B_uc001jwo.1_Silent_p.R293R|KAT6B_uc001jwp.1_Silent_p.R293R	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	293					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CCTGTGATAGAGGATTTCATA	0.323000														32			10		0	0	0.000673444	0	0
LOC440041	440041	broad.mit.edu	37	11	55063004	55063004	+	RNA	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:55063004C>T	uc021qjb.1	-	2		c.634G>A			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		CTTAAAAGCTCCCTGGAATGT	0.428000														18			4		0	0	0.000602214	0	0
TTN	7273	broad.mit.edu	37	2	179450006	179450006	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:179450006G>A	uc021vsy.1	-	257	56986	c.56761C>T	c.(56761-56763)Cat>Tat	p.H18921Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.H12616Y|TTN_uc021vta.1_Missense_Mutation_p.H12549Y|TTN_uc021vtb.1_Missense_Mutation_p.H12424Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19848	Ig-like 107.						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)			CCATACACATGGGCTTCAATT	0.413000														185			38		0	0	0.000814825	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173898662	173898662	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:173898662G>A	uc002uhv.4	+	26	2857	c.2670G>A	c.(2668-2670)aaG>aaA	p.K890K	RAPGEF4_uc002uhw.4_Silent_p.K746K	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	890	Ras-GEF.				G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GCAAGTTCAAGAAGTTCTATG	0.358000														53			11		0	0	0.000673444	0	0
ZNF582	147948	broad.mit.edu	37	19	56896026	56896026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:56896026G>A	uc002qmy.3	-	4	1146	c.853C>T	c.(853-855)Ccg>Tcg	p.P285S	ZNF582_uc002qmz.1_Missense_Mutation_p.P254S	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	Homo sapiens zinc finger protein 582 (ZNF582), mRNA.	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CATTCATACGGTTTCTCACCA	0.398000														36			6		0	0	3.59834e-05	0	0
UROS	7390	broad.mit.edu	37	10	127486659	127486659	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr10:127486659G>A	uc001liw.4	-	5	583	c.450C>T	c.(448-450)atC>atT	p.I150I	UROS_uc001lix.4_Silent_p.I150I	NM_000375	NP_000366	P10746	HEM4_HUMAN	Homo sapiens uroporphyrinogen III synthase (UROS), mRNA.	150					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				CTTTTGGCAGGATTTCTCTTT	0.493000														42			8		0	0	6.40141e-05	0	0
NEXN	91624	broad.mit.edu	37	1	78383922	78383922	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:78383922G>A	uc001dic.4	+	4	708	c.411G>A	c.(409-411)agG>agA	p.R137R	NEXN_uc001dia.3_Silent_p.R137R|NEXN_uc009wcb.1_Silent_p.R73R|NEXN_uc001dib.4_Silent_p.R73R|NEXN_uc001did.1_Silent_p.R61R|NEXN_uc001dif.1_Silent_p.R29R	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	137	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		TAGAAAAGAGGAAAATACAGC	0.378000														44			7		0	0	8.12818e-05	0	0
MAGI3	260425	broad.mit.edu	37	1	114165587	114165587	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:114165587C>T	uc001edk.3	+	8	1512	c.1331C>T	c.(1330-1332)cCc>cTc	p.P444L	MAGI3_uc001edh.3_Missense_Mutation_p.P469L|MAGI3_uc001edi.4_Missense_Mutation_p.P444L|MAGI3_uc010owm.2_Missense_Mutation_p.P469L|MAGI3_uc001edj.3_Missense_Mutation_p.P165L	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	469	Interaction with PTEN.|PDZ 2.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGATGGTCCCGCAGCTCAG	0.343000														29			4		0	0	0.00024832	0	0
KCNQ5	56479	broad.mit.edu	37	6	73905118	73905118	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr6:73905118C>T	uc011dyh.2	+	14	3184	c.2837C>T	c.(2836-2838)cCt>cTt	p.P946L	KCNQ5_uc011dyi.2_Missense_Mutation_p.P937L|KCNQ5_uc010kat.3_Missense_Mutation_p.P918L|KCNQ5_uc003pgk.3_Missense_Mutation_p.P927L|KCNQ5_uc011dyj.2_Missense_Mutation_p.P817L|KCNQ5_uc011dyk.2_Missense_Mutation_p.P677L	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	927					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CTCAGCTTGCCTCATGTCAAA	0.423000														66			15		0	0	0.000219431	0	0
DNAJC8	22826	broad.mit.edu	37	1	28536526	28536526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:28536526G>A	uc001bpn.3	-	4	389	c.356C>T	c.(355-357)gCc>gTc	p.A119V	DNAJC8_uc001bpo.3_Non-coding_Transcript	NM_014280	NP_055095	O75937	DNJC8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 8 (DNAJC8), mRNA.	119	J.				nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		TACATCCAGGGCCCTCTTCTT	0.428000														34			11		0	0	0.000219431	0	0
KBTBD8	84541	broad.mit.edu	37	3	67058562	67058562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:67058562C>T	uc003dmy.3	+	3	1612	c.1559C>T	c.(1558-1560)tCc>tTc	p.S520F	KBTBD8_uc011bfv.2_Missense_Mutation_p.S78F	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	520										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TGTGATCAGTCCATAAATCCA	0.388000														79			15		0	0	0.000219431	0	0
ABCA11P	79963	broad.mit.edu	37	4	436857	436857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:436857G>A	uc003gaf.4	-	2	1721	c.1495C>T	c.(1495-1497)Cat>Tat	p.H499Y	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.H467Y|ABCA11P_uc010ibe.3_Missense_Mutation_p.H455Y	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		TTTCCAGTATGAATTTTCTCA	0.358000														46			6		0	0	8.12818e-05	0	0
SLC45A4	57210	broad.mit.edu	37	8	142221565	142221565	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:142221565C>T	uc003ywd.1	-	7	2681	c.2373G>A	c.(2371-2373)ccG>ccA	p.P791P	SLC45A4_uc022bbx.1_5'Flank|SLC45A4_uc003ywc.1_3'UTR|SLC45A4_uc010meq.1_3'UTR	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	0					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|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;0.0493)			CCAGGCCCCCCGGACCAGCCT	0.647000														77			10		0	0	0.000442599	0	0
LOC401010	401010	broad.mit.edu	37	2	132201832	132201832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:132201832G>A	uc002tst.2	-	0	636	c.170C>T	c.(169-171)aCc>aTc	p.T57I						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		GATGCAGAAGGTGACCAGAGC	0.577000														28			5		0	0	8.12818e-05	0	0
MMD2	221938	broad.mit.edu	37	7	4947052	4947052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:4947052G>A	uc003sno.4	-	6	984	c.788C>T	c.(787-789)aCc>aTc	p.T263I	MMD2_uc003snl.1_Intron|MMD2_uc003snn.4_Missense_Mutation_p.T239I|MMD2_uc010ksq.3_3'UTR	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	Homo sapiens monocyte to macrophage differentiation-associated 2 (MMD2), transcript variant 1, mRNA.	263						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		GGTCTGCAGGGTGCTGGGCAG	0.542000														70			16		0	0	0.000175454	0	0
FAM3B	54097	broad.mit.edu	37	21	42720634	42720634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr21:42720634G>A	uc002yzb.1	+	6	747	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	FAM3B_uc002yza.2_Non-coding_Transcript|FAM3B_uc002yzc.1_Missense_Mutation_p.E153K	NM_058186	NP_478066	P58499	FAM3B_HUMAN	Homo sapiens family with sequence similarity 3, member B (FAM3B), transcript variant 1, mRNA.	201					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)				ACTCCCTTCCGAAATTCAGAG	0.413000														43			10		0	0	0.000442599	0	0
SI	6476	broad.mit.edu	37	3	164735612	164735612	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:164735612C>T	uc003fei.3	-	29	3633	c.3570G>A	c.(3568-3570)ggG>ggA	p.G1190G		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1190	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AATCCAAGATCCCTCCAACTG	0.333000										HNSCC(35;0.089)				25			6		0	0	0.000157383	0	0
CLVS2	134829	broad.mit.edu	37	6	123319073	123319073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr6:123319073G>A	uc003pzi.1	+	1	1020	c.151G>A	c.(151-153)Gat>Aat	p.D51N		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	51					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GCGCACGGATGATGCCTTCAT	0.557000														58			12		0	0	0.00010058	0	0
PKD1	5310	broad.mit.edu	37	16	2159259	2159259	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr16:2159259G>A	uc002cos.1	-	14	6118	c.5909C>T	c.(5908-5910)gCc>gTc	p.A1970V	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.A1970V	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1970	PKD 15.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCACTCACGGCCTCCAGCAC	0.697000														32			6		0	0	3.59834e-05	0	0
FGFR2	2263	broad.mit.edu	37	10	123298196	123298196	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr10:123298196T>A	uc021pzz.1	-	5	1305	c.658A>T	c.(658-660)Agt>Tgt	p.S220C	FGFR2_uc021pzv.1_Missense_Mutation_p.S220C|FGFR2_uc021pzw.1_Missense_Mutation_p.S105C|FGFR2_uc021pzx.1_Missense_Mutation_p.S131C|FGFR2_uc021pzy.1_Missense_Mutation_p.S220C|FGFR2_uc010qtl.2_Missense_Mutation_p.S220C|FGFR2_uc010qtm.2_Missense_Mutation_p.S105C|FGFR2_uc021qaa.1_Missense_Mutation_p.S220C|FGFR2_uc021qab.1_Missense_Mutation_p.S131C|FGFR2_uc021qac.1_Missense_Mutation_p.S150C|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.S239C|FGFR2_uc010qto.2_Missense_Mutation_p.S124C|FGFR2_uc001lfo.1_Missense_Mutation_p.S239C|FGFR2_uc010qtp.2_Missense_Mutation_p.S239C|FGFR2_uc010qtq.2_Missense_Mutation_p.S239C	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	220	Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.E219K(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GGGACCACACTTTCCATAATG	0.448000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					34			7		0	0	0.000157383	0	0
JAZF1	221895	broad.mit.edu	37	7	27880461	27880461	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:27880461C>T	uc003szn.3	-	3	652	c.411G>A	c.(409-411)gtG>gtA	p.V137V	JAZF1_uc003szm.3_Silent_p.V73V	NM_175061	NP_778231	Q86VZ6	JAZF1_HUMAN	Homo sapiens JAZF zinc finger 1 (JAZF1), mRNA.	137					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CCTCATAGTCCACCTCCTCCT	0.582000			T	SUZ12	endometrial stromal tumours									256			35		0	0	0.000228196	0	0
MUC16	94025	broad.mit.edu	37	19	9085769	9085769	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:9085769G>A	uc002mkp.3	-	0	6250	c.6046C>T	c.(6046-6048)Cat>Tat	p.H2016Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2016	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						GAATTCTCATGGGTAGGGGAA	0.463000														64			8		0	0	0.000274275	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709668	128709668	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:128709668C>T	uc001qeo.1	-	1	579	c.528G>A	c.(526-528)ggG>ggA	p.G176G	KCNJ1_uc001qep.1_Silent_p.G157G|KCNJ1_uc001qeq.1_Silent_p.G157G|KCNJ1_uc001qer.1_Silent_p.G157G|KCNJ1_uc001qes.1_Silent_p.G157G|KCNJ1_uc021qsb.1_Silent_p.G157G	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	176					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CTAAGATGGCCCCACACATGA	0.463000														71			7		0	0	0.000442599	0	0
FAM124B	79843	broad.mit.edu	37	2	225266283	225266283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:225266283G>A	uc002vnx.3	-	0	429	c.203C>T	c.(202-204)tCc>tTc	p.S68F	FAM124B_uc002vnw.3_Missense_Mutation_p.S68F	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA.	68							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GAGCAACACGGACATCCCTGG	0.572000														30			8		0	0	0.000274275	0	0
C15orf60	283677	broad.mit.edu	37	15	73843312	73843312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr15:73843312G>A	uc002avq.3	+	3	395	c.367G>A	c.(367-369)Gga>Aga	p.G123R	C15orf60_uc010bjb.3_Missense_Mutation_p.G95R	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN	Homo sapiens chromosome 15 open reading frame 60 (C15orf60), mRNA.	123										endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						ACAGTTCAGTGGAGAGTCAAA	0.468000														73			5		0	0	8.12818e-05	0	0
KCNB2	9312	broad.mit.edu	37	8	73849879	73849879	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:73849879G>A	uc003xzb.3	+	2	2877	c.2289G>A	c.(2287-2289)caG>caA	p.Q763Q		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	763					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.Q763H(2)|p.Q763K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCCCCTCCCAGGGAGACAGAC	0.582000														70			14		0	0	0.000219431	0	0
KRT34	3885	broad.mit.edu	37	17	39535984	39535984	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:39535984C>T	uc002hwm.3	-	4	727	c.715_splice	c.e4-1	p.E239_splice		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	239	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TGTTAACCTCCTGTTGGAGAA	0.532000														20			6		0	0	0.000157383	0	0
HOXA4	3201	broad.mit.edu	37	7	27169083	27169084	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:27169083_27169084GG>AA	uc003sym.4	-	1	770_771	c.723_724CC>TT	c.(721-726)acccgg>acTTgg	p.R242W	HOXA3_uc003syk.3_5'Flank	NM_002141	NP_002132	Q00056	HXA4_HUMAN	Homo sapiens homeobox A4 (HOXA4), mRNA.	242						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CGGCGCCGCCGGGTCAGGTATC	0.574000														62			9		0	0	6.4e-05	0	0
CHL1	10752	broad.mit.edu	37	3	407673	407673	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:407673C>T	uc003bot.3	+	14	2268	c.1626C>T	c.(1624-1626)atC>atT	p.I542I	CHL1_uc003bou.3_Silent_p.I526I|CHL1_uc003bow.2_Silent_p.I526I|CHL1_uc011asi.2_Silent_p.I542I|BC065754_uc003box.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	526	Ig-like C2-type 6.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATCCTCGTATCCCCAAATTGC	0.343000														33			7		0	0	0.000157383	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156914849	156914849	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:156914849G>A	uc001fqo.3	-	28	3873	c.2833C>T	c.(2833-2835)Ctg>Ttg	p.L945L	ARHGEF11_uc010phu.2_Silent_p.L361L|ARHGEF11_uc001fqn.3_Silent_p.L985L	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	945					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCCTCTCCAGGGCGGTGGCA	0.567000														131			8		0	0	0.000442599	0	0
ARMC4	55130	broad.mit.edu	37	10	28225794	28225794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr10:28225794C>T	uc009xky.3	-	14	2211	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K	ARMC4_uc010qds.2_Missense_Mutation_p.E230K|ARMC4_uc010qdt.2_Missense_Mutation_p.E397K|ARMC4_uc001itz.3_Missense_Mutation_p.E705K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	705							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCCCGGGTTTCCTTATCTTCA	0.488000														49			12		0	0	0.000151284	0	0
FAM83A	84985	broad.mit.edu	37	8	124195487	124195487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:124195487G>A	uc003ypv.3	+	1	2405	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	FAM83A_uc003ypw.3_Missense_Mutation_p.E131K|U3_uc022bai.1_5'Flank|FAM83A_uc003ypx.3_Missense_Mutation_p.E131K|FAM83A_uc003ypy.3_Missense_Mutation_p.E131K|FAM83A_uc003ypz.3_Missense_Mutation_p.E131K	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	131										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTACCTGAAGGAAAAATCCAG	0.612000														63			9		0	0	0.000274275	0	0
ETV1	2115	broad.mit.edu	37	7	13949261	13949261	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:13949261G>A	uc021zzz.1	-	8	1023	c.936C>T	c.(934-936)ttC>ttT	p.F312F	ETV1_uc021zzt.1_Silent_p.F272F|ETV1_uc021zzu.1_Silent_p.F209F|ETV1_uc021zzv.1_Silent_p.F254F|ETV1_uc021zzw.1_Missense_Mutation_p.S272L|ETV1_uc021zzx.1_Missense_Mutation_p.S209L|ETV1_uc021zzy.1_Missense_Mutation_p.S254L|ETV1_uc022aaa.1_Silent_p.F294F|ETV1_uc022aab.1_Missense_Mutation_p.S312L|ETV1_uc003ssw.4_Silent_p.F289F|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Missense_Mutation_p.S294L|ETV1_uc022aad.1_Missense_Mutation_p.S294L|ETV1_uc010ktv.3_Missense_Mutation_p.S181L	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	312					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACCTACCATCGAATTTTTCTG	0.383000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""									136			16		0	0	0.000958276	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528505	65528505	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:65528505C>T	uc003xvj.2	-	2	797	c.593G>A	c.(592-594)gGa>gAa	p.G198E		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	198					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)				AATAACTTTTCCATATATAGT	0.328000														51			11		0	0	6.40141e-05	0	0
DRP2	1821	broad.mit.edu	37	X	100511121	100511121	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chrX:100511121A>T	uc004egz.2	+	20	2630	c.2261A>T	c.(2260-2262)tAc>tTc	p.Y754F	DRP2_uc011mrh.1_Missense_Mutation_p.Y676F	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	754					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GAGGACCAGTACCTGCTGCGG	0.577000														36			19		0	0	0.000229342	0	0
NLRP12	91662	broad.mit.edu	37	19	54304614	54304614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:54304614C>T	uc002qcj.4	-	6	2846	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	NLRP12_uc010eqw.3_Missense_Mutation_p.E158K|NLRP12_uc002qch.4_Missense_Mutation_p.E875K|NLRP12_uc002qci.4_Missense_Mutation_p.E875K|NLRP12_uc002qck.4_Intron|NLRP12_uc010eqx.3_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	875					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.E875*(2)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GAGGCCAGCTCGTCACAGGCA	0.527000														42			7		0	0	8.12818e-05	0	0
ZAN	7455	broad.mit.edu	37	7	100361534	100361534	+	Silent	SNP	A	G	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:100361534A>G	uc003uwj.3	+	20	4257	c.4092A>G	c.(4090-4092)ccA>ccG	p.P1364P	ZAN_uc003uwk.3_Silent_p.P1364P|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Intron	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1364	VWFD 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTCATGGCCCATTTGAGTATG	0.592000														79			6		0	0	3.59834e-05	0	0
TET3	200424	broad.mit.edu	37	2	74274273	74274273	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:74274273C>T	uc002skb.4	+	0	824	c.824C>T	c.(823-825)cCt>cTt	p.P275L	TET3_uc010fez.2_Missense_Mutation_p.P275L	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	275							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTGTGGTTCCTCCTGAAGAG	0.592000														53			9		0	0	0.000673444	0	0
NBEAL1	65065	broad.mit.edu	37	2	204037456	204037457	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:204037456_204037457CC>AA	uc002uzt.3	+	39	6449_6450	c.6116_6117CC>AA	c.(6115-6117)ccc>cAA	p.P2039Q	NBEAL1_uc021vvj.1_Missense_Mutation_p.P742Q	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2039	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTTTAGTTTCCCTGGATTTTAC	0.337000														328			10		0	0	6.4e-05	0	0
DENND2C	163259	broad.mit.edu	37	1	115144803	115144803	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:115144803G>A	uc001efd.1	-	11	2382	c.1680C>T	c.(1678-1680)tcC>tcT	p.S560S	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Silent_p.S503S	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	560	UDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAAGACAAAGGAGAATGTTT	0.388000														47			6		0	0	3.59834e-05	0	0
MFNG	4242	broad.mit.edu	37	22	37876777	37876777	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr22:37876777C>T	uc003ass.2	-	1	549	c.286G>A	c.(286-288)Ggc>Agc	p.G96S	MFNG_uc011anj.2_Intron|MFNG_uc011ani.2_Intron|CARD10_uc003ast.1_Non-coding_Transcript	NM_002405	NP_002396	O00587	MFNG_HUMAN	Homo sapiens MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (MFNG), transcript variant 1, mRNA.	96					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					TCCTGGAGGCCTTTGTCTGGG	0.617000														15			4		0	0	0.00024832	0	0
FLNB	2317	broad.mit.edu	37	3	58084611	58084611	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:58084611C>T	uc003djj.2	+	7	1486	c.1321C>T	c.(1321-1323)Ccc>Tcc	p.P441S	FLNB_uc010hne.2_Missense_Mutation_p.P441S|FLNB_uc003djk.2_Missense_Mutation_p.P441S|FLNB_uc010hnf.2_Missense_Mutation_p.P441S|FLNB_uc003djl.2_Missense_Mutation_p.P272S|FLNB_uc003djm.2_Missense_Mutation_p.P272S	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	441					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCCTAAGAGTCCCTTCGTTGT	0.547000														44			11		0	0	6.40141e-05	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111768813	111768813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:111768813C>T	uc010hqb.2	+	5	874	c.704C>T	c.(703-705)cCa>cTa	p.P235L	TMPRSS7_uc011bhr.1_Missense_Mutation_p.P90L	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	361					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	p.V235I(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GAGGTCATTCCAGAACAAAGT	0.353000														62			7		0	0	0.000274275	0	0
KIF4A	24137	broad.mit.edu	37	X	69615626	69615626	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chrX:69615626C>G	uc004dyg.3	+	20	2481	c.2338C>G	c.(2338-2340)Caa>Gaa	p.Q780E	KIF4A_uc010nkw.3_Missense_Mutation_p.Q780E	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	780	Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AGATGTGGCTCAACTCAAAGA	0.433000														12			7		0	0	8.12818e-05	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45484180	45484180	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:45484180C>T	uc001cnd.2	-	13	3732	c.3504G>A	c.(3502-3504)caG>caA	p.Q1168Q		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	1168							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTTTGTAGATCTGTTTGAGGT	0.532000											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		115			21		0	0	0.000295444	0	0
CNOT10	25904	broad.mit.edu	37	3	32776307	32776307	+	Silent	SNP	G	A	A	rs147797250	by1000genomes	TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:32776307G>A	uc011axj.1	+	11	1610	c.1533G>A	c.(1531-1533)tcG>tcA	p.S511S	CNOT10_uc011axi.1_Silent_p.S223S|CNOT10_uc003cfc.1_Silent_p.S451S|CNOT10_uc003cfd.1_Silent_p.S450S|CNOT10_uc003cfe.1_Silent_p.S451S|CNOT10_uc010hfv.1_Non-coding_Transcript|CNOT10_uc010hfw.1_Silent_p.S146S	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 10 (CNOT10), mRNA.	451					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						GGCAGTCTTCGGCCATTCCTG	0.383000														169			30		0	0	0.00058488	0	0
SV2B	9899	broad.mit.edu	37	15	91795180	91795180	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr15:91795180G>C	uc002bqv.3	+	3	1474	c.583G>C	c.(583-585)Gtg>Ctg	p.V195L	SV2B_uc002bqt.3_Missense_Mutation_p.V195L|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.V44L	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	195					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CTCTTCCTTCGTGCAGGGATA	0.587000														231			31		0	0	0.000953801	0	0
RPS7	6201	broad.mit.edu	37	2	3627805	3627805	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:3627805A>G	uc002qxw.3	+	5	568	c.462A>G	c.(460-462)atA>atG	p.I154M	RPS7_uc002qxy.3_Non-coding_Transcript	NM_001011	NP_001002	P62081	RS7_HUMAN	Homo sapiens ribosomal protein S7 (RPS7), mRNA.	154					endocrine pancreas development|rRNA processing|ribosomal small subunit biogenesis|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	RNA binding|protein binding|structural constituent of ribosome			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		GCCGGCTCATAAAGGTTCATT	0.468000														58			10		0	0	0.000673444	0	0
MIA3	375056	broad.mit.edu	37	1	222803033	222803033	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:222803033C>A	uc001hnl.3	+	3	2480	c.2471C>A	c.(2470-2472)cCa>cAa	p.P824Q	MIA3_uc009xea.1_Missense_Mutation_p.P660Q	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	824					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GCACAGAGACCATTTGAACGA	0.423000														400			11		0.000673444	0.00932853	0.000673444	1	0
HCK	3055	broad.mit.edu	37	20	30667604	30667604	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr20:30667604G>A	uc002wxh.3	+	5	693	c.456G>A	c.(454-456)aaG>aaA	p.K152K	HCK_uc010gdy.3_Silent_p.K132K|HCK_uc021wbv.1_Silent_p.K131K|HCK_uc002wxi.3_Silent_p.K130K	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	152	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCAGCCGGAAGGACGCAGAGC	0.587000														34			5		0	0	3.59834e-05	0	0
ESR2	2100	broad.mit.edu	37	14	64749369	64749369	+	Missense_Mutation	SNP	G	A	A	rs141516067		TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr14:64749369G>A	uc001xha.1	-	1	803	c.335C>T	c.(334-336)tCg>tTg	p.S112L	ESR2_uc001xgy.2_Missense_Mutation_p.S112L|ESR2_uc001xgu.3_Missense_Mutation_p.S112L|ESR2_uc001xgv.3_Missense_Mutation_p.S112L|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.S112L|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.S112L|ESR2_uc001xgz.2_Missense_Mutation_p.S112L	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	112	Modulating.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GTGTTCTAGCGATCTTGCTTC	0.448000														41			12		0	0	0.00010058	0	0
MPP3	4356	broad.mit.edu	37	17	41891690	41891690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:41891690C>T	uc002ieh.3	-	12	1385	c.1124G>A	c.(1123-1125)aGa>aAa	p.R375K	MPP3_uc002iei.4_Missense_Mutation_p.R350K|MPP3_uc002iej.3_Non-coding_Transcript	NM_001932	NP_001923	Q13368	MPP3_HUMAN	Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.	350					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GCCACCCAGTCTCTCCCTACA	0.617000														54			12		0	0	0.000151284	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033313	95033313	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr14:95033313G>A	uc010avd.3	+	2	1041	c.767G>A	c.(766-768)tGg>tAg	p.W256*	SERPINA4_uc001ydk.3_Nonsense_Mutation_p.W219*|SERPINA4_uc001ydl.3_Nonsense_Mutation_p.W219*	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	219					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCAGCCCTGTGGGAGAAACCA	0.517000														48			9		0	0	0.00010058	0	0
WDFY3	23001	broad.mit.edu	37	4	85731300	85731300	+	Silent	SNP	T	G	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:85731300T>G	uc003hpd.3	-	13	2493	c.2085A>C	c.(2083-2085)gcA>gcC	p.A695A	WDFY3_uc003hpf.3_Silent_p.A695A	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	695						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CATAGCGCATTGCTGCAGTCA	0.448000														58			15		0	0	0.000219431	0	0
PRSS1	5644	broad.mit.edu	37	7	142460296	142460296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:142460296G>A	uc003wak.2	+	3	486	c.469G>A	c.(469-471)Gag>Aag	p.E157K	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.E97K	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	157	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CTACCCAGACGAGCTGCAGTG	0.507000														234			25		0	0	0.000227799	0	0
CAMK4	814	broad.mit.edu	37	5	110819937	110819937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:110819937G>A	uc003kpf.3	+	10	1430	c.1195G>A	c.(1195-1197)Gcc>Acc	p.A399T	CAMK4_uc010jbv.3_Missense_Mutation_p.A202T|CAMK4_uc003kpg.3_Missense_Mutation_p.A90T	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	399					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GAAGGTGCAAGCCTTAGAGAA	0.512000														35			8		0	0	0.000274275	0	0
CADM2	253559	broad.mit.edu	37	3	85984998	85984998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:85984998G>A	uc003dql.3	+	5	761	c.761G>A	c.(760-762)gGa>gAa	p.G254E	CADM2_uc003dqj.3_Missense_Mutation_p.G252E|CADM2_uc003dqk.3_Missense_Mutation_p.G261E|CADM2_uc003dqm.2_Missense_Mutation_p.G144E|CADM2_uc021xay.1_Missense_Mutation_p.G144E|CADM2_uc021xaz.1_Missense_Mutation_p.G144E|CADM2_uc021xba.1_Missense_Mutation_p.G144E	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	252	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GAATCCAAAGGAAAACCACTG	0.318000														125			19		0	0	0.000375601	0	0
AK5	26289	broad.mit.edu	37	1	77806157	77806157	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:77806157C>T	uc001dhn.3	+	5	1132	c.795C>T	c.(793-795)gaC>gaT	p.D265D	AK5_uc001dho.3_Silent_p.D239D	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	265					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GCCGACCAGACGACAATGTAA	0.458000														72			11		0	0	6.40141e-05	0	0
MTMR3	8897	broad.mit.edu	37	22	30416562	30416562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr22:30416562C>T	uc003agv.4	+	16	3242	c.2914C>T	c.(2914-2916)Cgt>Tgt	p.R972C	MTMR3_uc003agu.4_Missense_Mutation_p.R972C|MTMR3_uc003agw.4_Missense_Mutation_p.R972C	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	972					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTCACTGAGCCGTCAGCTGTC	0.582000														43			9		0	0	6.40141e-05	0	0
FBXO24	26261	broad.mit.edu	37	7	100189493	100189493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:100189493C>T	uc011kjz.1	+	3	708	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Missense_Mutation_p.R162C|FBXO24_uc003uvm.1_Missense_Mutation_p.R176C|FBXO24_uc003uvn.1_5'UTR|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Missense_Mutation_p.R164C	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	176						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCGGGCCTGTCGCTATGTTGT	0.527000														55			11		0	0	6.40141e-05	0	0
FAM19A1	407738	broad.mit.edu	37	3	68587978	68587978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:68587978C>T	uc003dnd.3	+	3	547	c.331C>T	c.(331-333)Cct>Tct	p.P111S	FAM19A1_uc003dne.3_Missense_Mutation_p.P111S|FAM19A1_uc003dng.3_Missense_Mutation_p.P111S	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	111						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		TAAGACACTCCCTGACAATTC	0.428000														63			9		0	0	0.000673444	0	0
PHF14	9678	broad.mit.edu	37	7	11101640	11101640	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:11101640A>G	uc003sry.2	+	15	3034	c.2582A>G	c.(2581-2583)aAg>aGg	p.K861R	PHF14_uc011jxi.2_Missense_Mutation_p.K576R|PHF14_uc011jxj.2_Missense_Mutation_p.K576R	NM_014660	NP_055475	O94880	PHF14_HUMAN	Homo sapiens PHD finger protein 14 (PHF14), transcript variant 2, mRNA.	861							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TTGCAAAAGAAGCCCAAGGCT	0.368000														18			3		0	0	6.4e-05	0	0
OR13C8	138802	broad.mit.edu	37	9	107332092	107332092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr9:107332092C>T	uc011lvo.2	+	0	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TTAGTAATTTCCATCTCTTAC	0.418000														78			26		0	0	0.000147802	0	0
JHDM1D	80853	broad.mit.edu	37	7	139796708	139796708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:139796708G>A	uc003vvm.3	-	15	2160	c.2156C>T	c.(2155-2157)cCa>cTa	p.P719L	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	719					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)					CCTTTTAATTGGAATTTCACT	0.303000														47			9		0	0	0.00010058	0	0
OR2A12	346525	broad.mit.edu	37	7	143792740	143792740	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:143792740C>T	uc011kty.2	+	0	540	c.540C>T	c.(538-540)atC>atT	p.I180I		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TCTGTCAAATCATGTCCGTAT	0.483000														96			16		0	0	0.000308642	0	0
MED16	10025	broad.mit.edu	37	19	873506	873506	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:873506C>T	uc002lqd.1	-	10	1999	c.1848G>A	c.(1846-1848)caG>caA	p.Q616Q	MED16_uc010drw.2_Silent_p.Q441Q|MED16_uc002lqe.3_Silent_p.Q605Q|MED16_uc002lqf.3_Silent_p.Q605Q|MED16_uc010xfz.2_Non-coding_Transcript|MED16_uc010xfv.1_Non-coding_Transcript|MED16_uc010xfw.1_Silent_p.Q536Q|MED16_uc010xfx.1_Silent_p.Q461Q|MED16_uc010xfy.1_Silent_p.Q193Q	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	Homo sapiens mediator complex subunit 16 (MED16), mRNA.	616					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)		ACTGCAAGAGCTGCTGCAGCG	0.612000														45			6		0	0	3.59834e-05	0	0
TCRBV21S1	0	broad.mit.edu	37	7	142223960	142223960	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:142223960C>T	uc003vyi.2	-	1	224	c.207G>A	c.(205-207)caG>caA	p.Q69Q	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		CACTCTCATCCTGAAATTGAA	0.507000														35			7		0	0	8.12818e-05	0	0
GPR98	84059	broad.mit.edu	37	5	90072347	90072347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:90072347C>T	uc003kju.3	+	60	12577	c.12481C>T	c.(12481-12483)Ctc>Ttc	p.L4161F	GPR98_uc003kjt.3_Missense_Mutation_p.L1867F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4161					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			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)		TAGGCACATCCTCATTGGGGA	0.403000														49			8		0	0	0.000274275	0	0
OR51M1	390059	broad.mit.edu	37	11	5410752	5410752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:5410752C>T	uc010qzc.2	+	0	146	c.124C>T	c.(124-126)Ccc>Tcc	p.P42S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	42						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATTTTCATCCCCTTTTTCTT	0.413000														99			6		0	0	3.59834e-05	0	0
APLF	200558	broad.mit.edu	37	2	68772353	68772353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:68772353C>T	uc002sep.3	+	7	1368	c.1195C>T	c.(1195-1197)Cct>Tct	p.P399S	APLF_uc002seq.1_Non-coding_Transcript|APLF_uc010fdf.2_Missense_Mutation_p.P375S|APLF_uc002ser.1_Missense_Mutation_p.P130S	NM_173545	NP_775816	Q8IW19	APLF_HUMAN	Homo sapiens aprataxin and PNKP like factor (APLF), mRNA.	399					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TTTTAGCCATCCTGGTGATAG	0.388000														54			13		0	0	0.000422831	0	0
TTN	7273	broad.mit.edu	37	2	179427423	179427423	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:179427423G>A	uc021vsy.1	-	274	75957	c.75732C>T	c.(75730-75732)gcC>gcT	p.A25244A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.A18939A|TTN_uc021vta.1_Silent_p.A18872A|TTN_uc021vtb.1_Silent_p.A18747A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26171	Ig-like 124.						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)			TGGTAGCATAGGCTTTTCTTG	0.373000														66			9		0	0	0.000673444	0	0
TRPC3	7222	broad.mit.edu	37	4	122846297	122846297	+	Missense_Mutation	SNP	C	T	T	rs148910203		TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:122846297C>T	uc003ieg.2	-	2	1126	c.1052G>A	c.(1051-1053)cGa>cAa	p.R351Q	TRPC3_uc010inr.2_Missense_Mutation_p.R278Q|TRPC3_uc003ief.2_Missense_Mutation_p.R278Q|TRPC3_uc011cgl.1_Missense_Mutation_p.R15Q	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	266					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTCTGAGTCTCGGCAGAGATC	0.438000														73			15		0	0	0.000422831	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67320969	67320969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr16:67320969C>T	uc010cef.3	+	17	3291	c.2992C>T	c.(2992-2994)Cgc>Tgc	p.R998C	PLEKHG4_uc002eso.4_Missense_Mutation_p.R998C|PLEKHG4_uc002esp.4_Missense_Mutation_p.R805C|PLEKHG4_uc002esq.4_Missense_Mutation_p.R998C|PLEKHG4_uc002ess.4_Missense_Mutation_p.R998C|PLEKHG4_uc010ceg.3_Missense_Mutation_p.R917C	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	998	PH.			R -> G (in Ref. 3; AAH54486).	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CTGGTTCCGCCGCCGCAAGGC	0.627000														24			6		0	0	3.59834e-05	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480627	140480627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:140480627G>A	uc003lio.3	+	0	394	c.394G>A	c.(394-396)Gta>Ata	p.V132I	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	132	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATTCTCCGGTATTCTTTGA	0.393000														73			18		0	0	0.000958276	0	0
CACHD1	57685	broad.mit.edu	37	1	65131799	65131799	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:65131799T>C	uc001dbo.1	+	15	2288	c.2183T>C	c.(2182-2184)gTt>gCt	p.V728A	CACHD1_uc001dbp.1_Missense_Mutation_p.V483A|CACHD1_uc001dbq.1_Missense_Mutation_p.V483A|CACHD1_uc010opa.1_5'UTR	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	779					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TACTTAGATGTTGGAGGAGCT	0.328000														61			9		0	0	0.000442599	0	0
IQSEC1	9922	broad.mit.edu	37	3	12977268	12977268	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:12977268G>A	uc003bxt.2	-	2	1299	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	IQSEC1_uc003bxu.3_Silent_p.L308L|IQSEC1_uc011auw.1_Silent_p.L416L	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	430					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCTCCCGGGGGAGGCTCTTGG	0.692000														22			6		0	0	3.59834e-05	0	0
OR13C8	138802	broad.mit.edu	37	9	107331655	107331655	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr9:107331655C>T	uc011lvo.2	+	0	207	c.207C>T	c.(205-207)ctC>ctT	p.L69L		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TTTCCTTCCTCGACGTTTGCT	0.428000														169			14		0	0	0.000308642	0	0
DDX60	55601	broad.mit.edu	37	4	169204704	169204704	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:169204704G>A	uc003irp.3	-	12	1907	c.1615C>T	c.(1615-1617)Caa>Taa	p.Q539*		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	539							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TAAAACCGTTGGAAAACATGA	0.328000														48			15		0	0	0.000958276	0	0
IGSF10	285313	broad.mit.edu	37	3	151156350	151156350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:151156350G>A	uc011bod.2	-	5	5999	c.5999C>T	c.(5998-6000)tCc>tTc	p.S2000F	IGSF10_uc011bob.2_Missense_Mutation_p.S27F|IGSF10_uc011boc.2_5'UTR	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2000	Ig-like C2-type 6.				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)			AATAAACAGGGATCCATTAGG	0.433000														53			12		0	0	0.000308642	0	0
ATP11B	23200	broad.mit.edu	37	3	182631767	182631767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:182631767C>T	uc003flb.3	+	28	3694	c.3437C>T	c.(3436-3438)cCa>cTa	p.P1146L	ATP11B_uc003flc.3_Missense_Mutation_p.P730L|ATP11B_uc010hxg.3_Non-coding_Transcript|ATP11B_uc010hxh.1_3'UTR	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	1146					ATP biosynthetic process|aminophospholipid transport	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AGATGTAGTCCAACCCACATC	0.473000														102			22		0	0	0.000229342	0	0
TTN	7273	broad.mit.edu	37	2	179470419	179470419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:179470419C>T	uc021vsy.1	-	227	46124	c.45899G>A	c.(45898-45900)aGg>aAg	p.R15300K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R8995K|TTN_uc021vta.1_Missense_Mutation_p.R8928K|TTN_uc021vtb.1_Missense_Mutation_p.R8803K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16227	Fibronectin type-III 11.						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)			GTATGTGAGCCTCTCTGGAGA	0.393000														38			6		0	0	8.12818e-05	0	0
TKTL1	8277	broad.mit.edu	37	X	153524338	153524338	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chrX:153524338G>A	uc004fkg.3	+	0	312	c.126G>A	c.(124-126)acG>acA	p.T42T	TEX28_uc004fke.3_5'Flank|TEX28_uc004fkf.3_5'Flank|TEX28_uc010nut.1_5'Flank|TKTL1_uc011mzl.2_Silent_p.T42T|TKTL1_uc011mzm.2_Silent_p.T42T	NM_012253	NP_001139406	P51854	TKTL1_HUMAN	Homo sapiens transketolase-like 1 (TKTL1), transcript variant 1, mRNA.	42					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	p.S41F(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGCTCCACGAGCTCCGGGT	0.617000														47			19		0	0	0.000375601	0	0
ABCD3	5825	broad.mit.edu	37	1	94953463	94953464	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:94953463_94953464GG>AA	uc010oto.2	+	13	1255_1256	c.1153_1154GG>AA	c.(1153-1155)gga>AAa	p.G385K	ABCD3_uc001dqn.4_Missense_Mutation_p.G361K|ABCD3_uc010otp.2_Missense_Mutation_p.G288K|ABCD3_uc009wdr.3_Intron|ABCD3_uc001dqo.4_Missense_Mutation_p.G49K	NM_002858	NP_002849	P28288	ABCD3_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA.	361					peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		CTACCAAAGTGGAAGAATGCTT	0.327000														47			9		0	0	6.4e-05	0	0
GCNT3	9245	broad.mit.edu	37	15	59911588	59911588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr15:59911588G>A	uc002age.3	+	2	1600	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	GCNT3_uc002agd.3_Missense_Mutation_p.G384E|GCNT3_uc021smz.1_Missense_Mutation_p.G384E	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	384					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCTGCTCTGGAATCCACCAG	0.507000														111			23		0	0	0.000295444	0	0
SHC2	25759	broad.mit.edu	37	19	425215	425215	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:425215G>A	uc002loq.4	-	9	1191	c.1191C>T	c.(1189-1191)ggC>ggT	p.G397G		NM_012435	NP_036567	P98077	SHC2_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 2 (SHC2), mRNA.	397	CH1.				Ras protein signal transduction|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCACGTAGCCGTCCCCCG	0.716000														22			11		0	0	0.000673444	0	0
IGFL2	147920	broad.mit.edu	37	19	46663934	46663934	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:46663934A>G	uc002peb.3	+	3	461	c.170A>G	c.(169-171)aAc>aGc	p.N57S	IGFL2_uc010xxv.2_Missense_Mutation_p.N46S	NM_001002915	NP_001002915	Q6UWQ7	IGFL2_HUMAN	Homo sapiens IGF-like family member 2 (IGFL2), transcript variant 1, mRNA.	46						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		AAGATCTACAACCCCTTGGAG	0.592000														164			18		0	0	0.000958276	0	0
SLIT1	6585	broad.mit.edu	37	10	98762108	98762108	+	Silent	SNP	G	A	A	rs146064836	byFrequency	TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr10:98762108G>A	uc001kmw.2	-	35	4425	c.4173C>T	c.(4171-4173)tgC>tgT	p.C1391C		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	1391	EGF-like 8.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGAGGGGCACGCATTGCCCAT	0.657000														10			4		0	0	0.00024832	0	0
ZNF211	10520	broad.mit.edu	37	19	58152517	58152517	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:58152517C>T	uc002qpr.2	+	5	1158	c.855C>T	c.(853-855)gcC>gcT	p.A285A	ZNF211_uc010yhb.1_Silent_p.A225A|ZNF211_uc002qpp.2_Silent_p.A234A|ZNF211_uc002qpq.2_Silent_p.A221A|ZNF211_uc002qpt.2_Silent_p.A233A|ZNF211_uc010yhc.1_Silent_p.A233A|ZNF211_uc010yhe.1_Silent_p.A212A|ZNF211_uc010yhd.1_Silent_p.A160A	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	221						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)		GTGCGGTGGCCTTTTACAGTG	0.468000														61			5		0	0	0.000602214	0	0
SLC36A2	153201	broad.mit.edu	37	5	150726974	150726974	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:150726974G>A	uc003lty.3	-	0	178	c.48C>T	c.(46-48)atC>atT	p.I16I	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_5'UTR|SLC36A2_uc010jhv.2_Silent_p.I16I|SLC36A2_uc011dct.1_Silent_p.I16I	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	16					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)			GGTCCAATTTGATGGCAACGG	0.493000														150			27		0	0	0.000227799	0	0
SPOCK3	50859	broad.mit.edu	37	4	167658662	167658662	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:167658662C>T	uc011cjq.1	-	8	1181	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E	SPOCK3_uc021xuf.1_Missense_Mutation_p.G366E|SPOCK3_uc011cjr.1_Missense_Mutation_p.G246E|SPOCK3_uc003iri.1_Missense_Mutation_p.G366E|SPOCK3_uc011cjs.1_Missense_Mutation_p.G315E|SPOCK3_uc003irj.1_Missense_Mutation_p.G363E|SPOCK3_uc011cjt.1_Missense_Mutation_p.G274E|SPOCK3_uc011cjp.2_Missense_Mutation_p.G323E|SPOCK3_uc011cju.1_Missense_Mutation_p.G270E|SPOCK3_uc011cjv.1_Missense_Mutation_p.G268E	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	366	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.G363E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GACTTCATTTCCATATCTGTC	0.403000														126			25		0	0	0.000878237	0	0
SELENBP1	8991	broad.mit.edu	37	1	151338884	151338884	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:151338884T>C	uc010pcy.2	-	6	966	c.836A>G	c.(835-837)gAg>gGg	p.E279G	SELENBP1_uc001exx.3_Missense_Mutation_p.E237G|SELENBP1_uc010pcz.2_Missense_Mutation_p.E175G|SELENBP1_uc001eya.3_Missense_Mutation_p.E173G	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	237					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	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)			CTGCACAATCTCATGGCGCTG	0.577000														94			15		0	0	0.000422831	0	0
CCDC42	146849	broad.mit.edu	37	17	8638800	8638800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:8638800C>T	uc002gln.3	-	4	849	c.622G>A	c.(622-624)Gag>Aag	p.E208K	CCDC42_uc002glo.3_Intron	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.	208				Missing (in Ref. 2; AAH29224).						kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TCCTTTTCCTCCATGTAGCGC	0.592000														34			7		0	0	0.000157383	0	0
WDR47	22911	broad.mit.edu	37	1	109554138	109554139	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:109554138_109554139GG>TT	uc001dwl.3	-	4	926_927	c.550_551CC>AA	c.(550-552)cct>AAt	p.P184N	WDR47_uc001dwi.3_Missense_Mutation_p.P177N|WDR47_uc001dwj.3_Missense_Mutation_p.P177N|WDR47_uc001dwk.2_Missense_Mutation_p.P149N|WDR47_uc010ovf.2_Missense_Mutation_p.P104N	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	177										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CCTATCAGCAGGGATGAATTCT	0.441000														504			12		0	0	6.4e-05	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45486444	45486444	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:45486444G>A	uc001cnd.2	-	11	2694	c.2466C>T	c.(2464-2466)ctC>ctT	p.L822L		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	822							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GAATTGTTCGGAGTCTCAAAG	0.423000														156			30		0	0	0.000814825	0	0
THADA	63892	broad.mit.edu	37	2	43802077	43802078	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:43802077_43802078GG>TT	uc002rsw.4	-	10	1478_1479	c.1126_1127CC>AA	c.(1126-1128)ccg>AAg	p.P376K	THADA_uc002rsx.4_Missense_Mutation_p.P376K|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Missense_Mutation_p.P86K|THADA_uc002rta.2_Missense_Mutation_p.P86K|THADA_uc002rtb.1_Missense_Mutation_p.P376K|THADA_uc002rtc.4_Missense_Mutation_p.P376K|THADA_uc002rtd.3_Missense_Mutation_p.P376K	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	376							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CGTTAGGCTCGGGGAACTTGAT	0.426000														499			16		0	0	6.4e-05	0	0
CCDC146	57639	broad.mit.edu	37	7	76889513	76889513	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:76889513G>A	uc003uga.3	+	7	1073	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	CCDC146_uc010ldp.3_Missense_Mutation_p.E62K	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	316										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CAAGCTATTGGAATTAGCCAG	0.313000														46			10		0	0	6.40141e-05	0	0
CYP2A7	1549	broad.mit.edu	37	19	41387548	41387548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:41387548C>T	uc002opm.3	-	1	831	c.289G>A	c.(289-291)Gag>Aag	p.E97K	CYP2A7_uc002opo.3_Missense_Mutation_p.E97K|CYP2A7_uc002opn.3_Intron	NM_000764	NP_000755	P20853	CP2A7_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA.	97						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCGCTGAACTCCTCAGCCTGG	0.642000														51			5		0	0	0.000442599	0	0
CCDC57	284001	broad.mit.edu	37	17	80059628	80059628	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:80059628C>A	uc002kdx.1	-	16	2715	c.2678G>T	c.(2677-2679)cGg>cTg	p.R893L		NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	Homo sapiens coiled-coil domain containing 57 (CCDC57), mRNA.	894										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)			AGGATGAGACCGGGAGGCTCC	0.612000														78			5		0.000602214	0.0083971	0.000602214	1	0
POM121L12	285877	broad.mit.edu	37	7	53103832	53103832	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:53103832G>A	uc003tpz.3	+	0	484	c.468G>A	c.(466-468)caG>caA	p.Q156Q		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	156								p.Q156K(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCCTGGACAGAGAgcccgcc	0.731000														16			5		0	0	0.000602214	0	0
MXRA5	25878	broad.mit.edu	37	X	3229204	3229204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chrX:3229204G>A	uc004crg.4	-	6	7197	c.7040C>T	c.(7039-7041)aCc>aTc	p.T2347I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2347	Ig-like C2-type 8.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTTCCGGATGGTGGCGGGCGC	0.567000														32			21		0	0	0.00047179	0	0
BAHD1	22893	broad.mit.edu	37	15	40758203	40758203	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr15:40758203C>T	uc001zlu.2	+	6	2288	c.2217C>T	c.(2215-2217)ccC>ccT	p.P739P	BAHD1_uc001zlt.2_Silent_p.P738P|BAHD1_uc010bbp.1_Silent_p.P735P|BAHD1_uc001zlv.2_Silent_p.P736P	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	739	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CACTGGTTCCCCCCTCTGCAG	0.597000														80			19		0	0	0.000295444	0	0
SRSF11	9295	broad.mit.edu	37	1	70700397	70700397	+	Missense_Mutation	SNP	G	C	C	rs140006011		TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:70700397G>C	uc001des.3	+	4	590	c.466G>C	c.(466-468)Gct>Cct	p.A156P	SRSF11_uc001det.3_Missense_Mutation_p.A156P|SRSF11_uc001deu.2_Missense_Mutation_p.A156P|SRSF11_uc001dev.3_5'UTR|SRSF11_uc001dew.3_Missense_Mutation_p.A96P	NM_004768	NP_004759	Q05519	SRS11_HUMAN	Homo sapiens serine/arginine-rich splicing factor 11 (SRSF11), transcript variant 1, mRNA.	156					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			large_intestine(3)|ovary(2)|skin(1)	6						TGTTCCACTGGCTGCTTTGGG	0.403000														101			15		0	0	0.00074312	0	0
C7orf33	202865	broad.mit.edu	37	7	148288069	148288069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:148288069C>T	uc003wew.3	+	0	413	c.52C>T	c.(52-54)Cca>Tca	p.P18S		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	Homo sapiens chromosome 7 open reading frame 33 (C7orf33), mRNA.	18										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CTGGAGACTTCCAGGCCCCCA	0.572000														45			12		0	0	0.000151284	0	0
ACTC1	70	broad.mit.edu	37	15	35085458	35085458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr15:35085458C>T	uc001ziu.1	-	2	685	c.442G>A	c.(442-444)Ggc>Agc	p.G148S	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	148					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GTGGTACGGCCAGAAGCATAC	0.522000														51			10		0	0	0.000673444	0	0
ANPEP	290	broad.mit.edu	37	15	90349755	90349755	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr15:90349755C>T	uc002bop.4	-	1	352	c.60G>A	c.(58-60)gtG>gtA	p.V20V		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	20			V -> M (in dbSNP:rs10152474).		angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|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)	ACACGGCTGCCACGCCCAGGA	0.632000														39			6		0	0	3.59834e-05	0	0
NELL1	4745	broad.mit.edu	37	11	21581772	21581772	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:21581772G>A	uc009yid.3	+	17	2061	c.1908G>A	c.(1906-1908)tgG>tgA	p.W636*	NELL1_uc010rdp.2_Nonsense_Mutation_p.W321*|NELL1_uc001mqe.3_Nonsense_Mutation_p.W608*|NELL1_uc001mqf.3_Nonsense_Mutation_p.W561*|NELL1_uc010rdo.2_Nonsense_Mutation_p.W551*|NELL1_uc001mqh.3_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	608	VWFC 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACACCTGTTGGAACGATTCTG	0.512000														96			10		0	0	6.40141e-05	0	0
ZNF521	25925	broad.mit.edu	37	18	22805795	22805795	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr18:22805795C>A	uc002kvk.2	-	3	2334	c.2087G>T	c.(2086-2088)tGt>tTt	p.C696F	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.C696F|ZNF521_uc002kvl.2_Missense_Mutation_p.C476F	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	696					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACAACTCTCACAGATGTAATA	0.448000			T	PAX5	ALL									72			20		1.87028e-06	2.66975e-05	0.000229342	1	0
SDR16C5	195814	broad.mit.edu	37	8	57228854	57228854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:57228854G>A	uc010lyk.1	-	1	691	c.53C>T	c.(52-54)tCa>tTa	p.S18L	SDR16C5_uc003xsy.1_Missense_Mutation_p.S18L|SDR16C5_uc010lyl.1_Missense_Mutation_p.S18L	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	18					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						ACTAAACAGTGATTTTCCTAA	0.418000														44			7		0	0	0.000274275	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841819	8841819	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:8841819G>A	uc010xkg.2	+	0	429	c.429G>A	c.(427-429)ctG>ctA	p.L143L		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	143					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						TATGTCTGCTGATGATGGGCT	0.547000														51			7		0	0	0.000157383	0	0
COL14A1	7373	broad.mit.edu	37	8	121381647	121381647	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:121381647G>A	uc003yox.3	+	46	5499	c.5234G>A	c.(5233-5235)gGg>gAg	p.G1745E	COL14A1_uc003yoz.3_Missense_Mutation_p.G710E	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1745	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGTCATCTGGGGGTTCCTGGA	0.592000														43			15		0	0	0.000566183	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55107818	55107818	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:55107818A>C	uc003dhf.3	+	36	3163	c.3115A>C	c.(3115-3117)Aag>Cag	p.K1039Q		NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	1039						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.S1038F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGAATCCCTTAAGTGTGAACG	0.423000														25			8		0	0	0.000442599	0	0
FOXL1	2300	broad.mit.edu	37	16	86612345	86612345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr16:86612345G>A	uc002fjr.3	+	0	231	c.16G>A	c.(16-18)Gat>Aat	p.D6N		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	Homo sapiens forkhead box L1 (FOXL1), mRNA.	6					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of Wnt receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						TCACCTCTTCGATCCCCGGCT	0.726000														45			5		0	0	0.000157383	0	0
DBNDD2	55861	broad.mit.edu	37	20	44037233	44037233	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr20:44037233C>T	uc002xof.3	+	0	605	c.432C>T	c.(430-432)ctC>ctT	p.L144L	DBNDD2_uc002xnx.3_Silent_p.L42L|DBNDD2_uc021wei.1_Silent_p.L42L|DBNDD2_uc002xnz.3_Silent_p.L42L|DBNDD2_uc002xoa.3_Silent_p.L42L|DBNDD2_uc021wej.1_Silent_p.L42L|DBNDD2_uc002xob.3_Silent_p.L140L|DBNDD2_uc002xoc.3_Silent_p.L42L|DBNDD2_uc002xod.3_Silent_p.L42L|DBNDD2_uc002xog.3_Silent_p.L144L	NM_001048225	NP_001041690	Q9BQY9	DBND2_HUMAN	Homo sapiens dysbindin (dystrobrevin binding protein 1) domain containing 2 (DBNDD2), transcript variant 5, mRNA.	140					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				ATCTGCATCTCGAGTCGCAGA	0.557000														49			16		0	0	0.000958276	0	0
UBE2K	3093	broad.mit.edu	37	4	39757304	39757304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:39757304C>T	uc003guu.4	+	3	528	c.244C>T	c.(244-246)Cct>Tct	p.P82S	UBE2K_uc003gus.4_Missense_Mutation_p.P82S|UBE2K_uc003gut.4_Missense_Mutation_p.P31S|UBE2K_uc010ifn.3_Non-coding_Transcript|UBE2K_uc011byq.2_Intron|UBE2K_uc003guq.4_5'UTR	NM_005339	NP_005330	P61086	UBE2K_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2K (UBE2K), transcript variant 1, mRNA.	82					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity			large_intestine(1)|lung(1)|ovary(2)	4						AATATGGCATCCTAATATTAG	0.338000														94			8		0	0	0.000274275	0	0
MT4	84560	broad.mit.edu	37	16	56602771	56602771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr16:56602771C>T	uc002eje.1	+	2	196	c.116C>T	c.(115-117)cCc>cTc	p.P39L		NM_032935	NP_116324	P47944	MT4_HUMAN	Homo sapiens metallothionein 4 (MT4), mRNA.	39						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						CCCTGCTGCCCCCCGGGCTGT	0.607000														109			12		0	0	0.000219431	0	0
OR51A4	401666	broad.mit.edu	37	11	4967467	4967467	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:4967467C>T	uc010qys.2	-	0	864	c.864G>A	c.(862-864)acG>acA	p.T288T		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	288			T -> M (in dbSNP:rs2442426).		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)		CAATTGGGTTCGTCAGTGGAG	0.428000														140			9		0	0	0.000442599	0	0
SNTG1	54212	broad.mit.edu	37	8	51442742	51442742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:51442742C>T	uc010lxy.1	+	10	843	c.472C>T	c.(472-474)Cca>Tca	p.P158S	SNTG1_uc003xqs.1_Missense_Mutation_p.P158S|SNTG1_uc010lxz.1_Missense_Mutation_p.P158S|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	158					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGCAGGTGCTCCAAGTGACCA	0.453000														51			13		0	0	0.000308642	0	0
PTP4A3	11156	broad.mit.edu	37	8	142437169	142437170	+	Splice_Site	DNP	GG	TA	TA			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:142437169_142437170GG>TA	uc003ywg.1	+	3	663	c.329_splice	c.e3+1	p.R110_splice	PTP4A3_uc003ywh.1_Splice_Site_p.R110_splice|PTP4A3_uc010met.1_Intron	NM_032611	NP_116000	O75365	TP4A3_HUMAN	Homo sapiens protein tyrosine phosphatase type IVA, member 3 (PTP4A3), transcript variant 1, mRNA.	110	Tyrosine-protein phosphatase.					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GGCCTGGGCCGGTGAGTGTCGG	0.653000														78			9		0	0	6.4e-05	0	0
DENND2A	27147	broad.mit.edu	37	7	140301949	140301949	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:140301949C>T	uc010lnk.3	-	2	769	c.249G>A	c.(247-249)agG>agA	p.R83R	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.R83R|DENND2A_uc003vvw.3_Silent_p.R83R|DENND2A_uc003vvx.3_Silent_p.R83R	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	83										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CATCACTACTCCTCCTCTCCA	0.537000														71			12		0	0	0.00010058	0	0
LRP2	4036	broad.mit.edu	37	2	170031841	170031841	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:170031841C>T	uc002ues.3	-	54	10843	c.10630G>A	c.(10630-10632)Gaa>Aaa	p.E3544K		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3544	LDL-receptor class A 26.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.E3544Q(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGGCCAGTTCATCAGAGCCA	0.527000														46			13		0	0	0.000422831	0	0
RTEL1	51750	broad.mit.edu	37	20	62326851	62326851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr20:62326851G>A	uc021wge.1	+	32	3840	c.3670G>A	c.(3670-3672)Gac>Aac	p.D1224N	RTEL1_uc002yfu.2_Intron|RTEL1_uc011abd.2_Intron|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Intron|RTEL1_uc002yfx.1_Missense_Mutation_p.D469N|TNFRSF6B_uc002yfy.3_Intron|TNFRSF6B_uc002yfz.3_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	0					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TCATGGGAGAGACATCGCTGG	0.697000														49			21		0	0	0.000229342	0	0
STXBP4	252983	broad.mit.edu	37	17	53155458	53155458	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:53155458A>G	uc002iuf.1	+	13	1415	c.1208A>G	c.(1207-1209)aAa>aGa	p.K403R	STXBP4_uc010dcd.1_Missense_Mutation_p.K381R	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.	403						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						CAGGATTTAAAAAAGAGAATC	0.353000														47			17		0	0	0.00074312	0	0
ITGB2	3689	broad.mit.edu	37	21	46310042	46310042	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr21:46310042G>A	uc002zgd.2	-	10	1552	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	ITGB2_uc002zgf.3_Missense_Mutation_p.S503F|ITGB2_uc011afl.1_Missense_Mutation_p.S425F|ITGB2_uc010gpw.2_Missense_Mutation_p.S446F|ITGB2_uc002zgg.2_Missense_Mutation_p.S503F	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	503	Cysteine-rich tandem repeats.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCAGATGATGGAGTTGTTGTC	0.607000														22			4		0	0	0.00024832	0	0
ZNF266	10781	broad.mit.edu	37	19	9524605	9524605	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:9524605G>A	uc010dwq.3	-	8	2204	c.996C>T	c.(994-996)tcC>tcT	p.S332S	ZNF266_uc002mll.3_Silent_p.S332S|ZNF266_uc002mlm.3_Silent_p.S332S|ZNF266_uc002mln.3_Silent_p.S332S|ZNF266_uc002mlo.3_Silent_p.S332S	NM_198058	NP_932175	Q14584	ZN266_HUMAN	Homo sapiens zinc finger protein 266 (ZNF266), mRNA.	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						AATTTCTAAAGGATTTTCCAC	0.383000														63			15		0	0	0.000422831	0	0
CDC37	11140	broad.mit.edu	37	19	10506832	10506832	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:10506832C>T	uc002mof.1	-	1	266	c.150G>A	c.(148-150)ctG>ctA	p.L50L		NM_007065	NP_008996	Q16543	CDC37_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae) (CDC37), mRNA.	50					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		AGCCCCTGTCCAGTTCCTCCT	0.662000														55			10		0	0	6.40141e-05	0	0
MYH7	4625	broad.mit.edu	37	14	23886453	23886453	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr14:23886453G>A	uc001wjx.3	-	31	4534	c.4428C>T	c.(4426-4428)tcC>tcT	p.S1476S		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1476					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTGTGCTGAGGGAGCGAGCCT	0.577000														52			13		0	0	0.000308642	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887686	12887686	+	Silent	SNP	T	C	C	rs59802947	by1000genomes	TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:12887686T>C	uc001auk.2	-	2	367	c.171A>G	c.(169-171)agA>agG	p.R57R		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	57								p.R57R(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGTTTCCATCTCCTGTGGG	0.468000														215			6		0	0	0.000151284	0	0
MUC17	140453	broad.mit.edu	37	7	100678178	100678178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:100678178C>T	uc003uxp.1	+	2	3534	c.3481C>T	c.(3481-3483)Ccg>Tcg	p.P1161S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1161	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGAACCACTCCGTTAGCAAG	0.522000														194			42		0	0	0.000319135	0	0
EPB41L1	2036	broad.mit.edu	37	20	34800280	34800280	+	Silent	SNP	C	T	T	rs138806418		TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr20:34800280C>T	uc010gfq.3	+	5	2826	c.2463C>T	c.(2461-2463)tcC>tcT	p.S821S	EPB41L1_uc002xeu.3_Silent_p.S648S|EPB41L1_uc010zvo.1_Silent_p.S722S|EPB41L1_uc002xev.3_Silent_p.S722S|EPB41L1_uc002xew.3_Silent_p.S613S|EPB41L1_uc002xex.3_Silent_p.S542S|EPB41L1_uc002xey.3_Silent_p.S500S|EPB41L1_uc002xez.3_Silent_p.S648S|EPB41L1_uc002xfb.3_Silent_p.S722S	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	722	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CCAGAGTCTCCGCTATGGATA	0.522000														37			11		0	0	6.40141e-05	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559719	20559719	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr16:20559719G>A	uc002dhj.4	-	7	1181	c.971C>T	c.(970-972)tCc>tTc	p.S324F	ACSM2B_uc002dhk.4_Missense_Mutation_p.S324F|ACSM2B_uc010bwf.1_Missense_Mutation_p.S324F	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	324					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.L323F(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCATCACCTGGAAAGATCCTG	0.498000														45			14		0	0	0.000566183	0	0
OR8D1	283159	broad.mit.edu	37	11	124180450	124180450	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:124180450G>A	uc010sag.2	-	0	213	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D70N(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGGAATAGCAGAAATCGACGA	0.463000														37			11		0	0	6.40141e-05	0	0
PSD4	23550	broad.mit.edu	37	2	113942615	113942615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:113942615G>A	uc002tjc.3	+	2	1321	c.1138G>A	c.(1138-1140)Gat>Aat	p.D380N	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.D379N|PSD4_uc002tjf.3_5'UTR	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	380					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						tgtcggatctgatcttggccc	0.537000														96			18		0	0	0.000566183	0	0
OR10H2	26538	broad.mit.edu	37	19	15839540	15839540	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:15839540C>T	uc002nbm.2	+	0	707	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCTTGAAGATCCCTTCTGCTG	0.537000														53			16		0	0	0.000422831	0	0
H3F3C	440093	broad.mit.edu	37	12	31944912	31944912	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr12:31944912C>T	uc001rkr.3	-	0	264	c.189G>A	c.(187-189)cgG>cgA	p.R63R		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	Homo sapiens H3 histone, family 3C (H3F3C), mRNA.	63					nucleosome assembly	nucleosome|nucleus	DNA binding	p.R63R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						AGGGCAGCTTCCGGATGAGCA	0.617000										HNSCC(67;0.2)				34			5		0	0	3.59834e-05	0	0
MAP1B	4131	broad.mit.edu	37	5	71494538	71494538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:71494538C>T	uc003kbw.4	+	4	5597	c.5356C>T	c.(5356-5358)Cca>Tca	p.P1786S	MAP1B_uc010iyw.1_Missense_Mutation_p.P1803S|MAP1B_uc010iyx.1_Missense_Mutation_p.P1660S|MAP1B_uc010iyy.1_Missense_Mutation_p.P1660S	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1786						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TGATATCTCTCCACTCACCCC	0.448000														50			9		0	0	0.000274275	0	0
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	T	T	rs55863639		TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:7579312C>T	uc002gim.2	-	4	569	c.375_splice	c.e4+1	p.T125_splice	TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.3_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site_p.T86_splice|TP53_uc010cnk.1_Splice_Site_p.T140_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAACTGACCGTGCAAGTCA	0.537000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				63			15		0	0	0.00074312	0	0
CGNL1	84952	broad.mit.edu	37	15	57745952	57745952	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr15:57745952A>G	uc010bfw.3	+	7	2319	c.2126A>G	c.(2125-2127)gAa>gGa	p.E709G	CGNL1_uc002aeg.3_Missense_Mutation_p.E709G	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	709						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CAGCTCTCAGAAATGCACGAT	0.552000														42			8		0	0	6.40141e-05	0	0
STK19	8859	broad.mit.edu	37	6	31940123	31940123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr6:31940123G>A	uc003nyv.3	+	1	393	c.265G>A	c.(265-267)Gac>Aac	p.D89N	DOM3Z_uc003nyp.1_5'Flank|DOM3Z_uc003nyq.1_5'Flank|DOM3Z_uc010jtl.1_5'Flank|STK19_uc003nyt.3_Missense_Mutation_p.D46N|DOM3Z_uc003nyu.1_5'Flank|STK19_uc011dow.2_Missense_Mutation_p.D89N|STK19_uc011dox.1_Missense_Mutation_p.D46N|STK19_uc003nyw.3_Missense_Mutation_p.D89N|STK19_uc010jtn.1_Non-coding_Transcript	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	89			D -> N (in a metastatic melanoma sample; somatic mutation).			nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.D89N(6)|p.E88K(1)		skin(5)|upper_aerodigestive_tract(2)	7						TGCGCCGGAAGACCCTATTTT	0.582000														55			10		0	0	0.000151284	0	0
MGAT5B	146664	broad.mit.edu	37	17	74868989	74868989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:74868989G>A	uc002jti.3	+	0	261	c.158G>A	c.(157-159)gGa>gAa	p.G53E	MGAT5B_uc002jtg.4_Missense_Mutation_p.G42E|MGAT5B_uc002jth.3_Missense_Mutation_p.G42E	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	42						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACGTCTCTGGGAGGCCAGTTC	0.622000														51			10		0	0	6.40141e-05	0	0
XIRP2	129446	broad.mit.edu	37	2	168105217	168105217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:168105217G>A	uc002udx.3	+	8	7404	c.7315G>A	c.(7315-7317)Gat>Aat	p.D2439N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D2264N|XIRP2_uc010fpq.3_Missense_Mutation_p.D2217N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2264					actin cytoskeleton organization	cell junction	actin binding	p.D2439N(2)		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						TAATAAGAACGATTTTTCCCC	0.408000														121			29		0	0	0.000814825	0	0
CHD3	1107	broad.mit.edu	37	17	7811803	7811803	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:7811803T>G	uc002gjd.2	+	34	5415	c.5413T>G	c.(5413-5415)Tat>Gat	p.Y1805D	CHD3_uc002gje.2_Missense_Mutation_p.Y1746D|CHD3_uc002gjf.2_Missense_Mutation_p.Y1712D|CHD3_uc002gjh.2_Missense_Mutation_p.Y323D|CHD3_uc002gjj.2_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1746	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AAGACATGACTATTGGCTTCT	0.458000														27			7		0	0	0.000157383	0	0
FAM120A	23196	broad.mit.edu	37	9	96278434	96278434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr9:96278434C>T	uc004atw.3	+	6	1326	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	FAM120A_uc004atv.3_Missense_Mutation_p.S434F|FAM120A_uc004atx.3_Missense_Mutation_p.S216F|FAM120A_uc004aty.3_Missense_Mutation_p.S215F|FAM120A_uc004atz.3_Missense_Mutation_p.S83F|FAM120A_uc010mrf.1_Non-coding_Transcript	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	434						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TATGAGCGGTCCTCGCCCATC	0.597000														37			6		0	0	0.000157383	0	0
CCDC144A	9720	broad.mit.edu	37	17	16635973	16635973	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:16635973A>G	uc002gqk.1	+	10	2487	c.2411A>G	c.(2410-2412)aAt>aGt	p.N804S	CCDC144A_uc002gql.1_Missense_Mutation_p.N274S|CCDC144A_uc010cpj.1_Non-coding_Transcript	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	804																	AAGAAAATGAATTCTGAGGTA	0.313000														16			9		0	0	0.000274275	0	0
LOC100101266	100101266	broad.mit.edu	37	19	24345488	24345488	+	RNA	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:24345488C>T	uc010edb.1	-	0		c.762G>A								Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA.																		ATTCCAAAGGCCATCTGAAGA	0.453000														184			28		0	0	0.000878237	0	0
TXNDC8	255220	broad.mit.edu	37	9	113096559	113096559	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr9:113096559G>A	uc004bes.3	-	1	115	c.66C>T	c.(64-66)ctC>ctT	p.L22L	TXNDC8_uc011lwl.2_Silent_p.L22L	NM_001003936	NP_001003936	Q6A555	TXND8_HUMAN	Homo sapiens thioredoxin domain containing 8 (spermatozoa) (TXNDC8), mRNA.	22	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	Golgi apparatus	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GAACCACTGCGAGTTTGTGTC	0.368000														33			6		0	0	0.000157383	0	0
ADPRH	141	broad.mit.edu	37	3	119301094	119301094	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:119301094C>T	uc003ecs.3	+	2	376	c.78C>T	c.(76-78)ttC>ttT	p.F26F	ADPRH_uc010hqv.3_Silent_p.F26F|ADPRH_uc011bjb.2_Intron|ADPRH_uc003ect.3_Silent_p.F26F	NM_001125	NP_001116	P54922	ADPRH_HUMAN	Homo sapiens ADP-ribosylarginine hydrolase (ADPRH), mRNA.	26					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	p.F26F(2)		breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		AGTGGGAGTTCCTCCAGGATG	0.572000														41			10		0	0	0.000442599	0	0
FER1L6	654463	broad.mit.edu	37	8	125025757	125025757	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:125025757C>T	uc003yqw.3	+	14	2114	c.1908C>T	c.(1906-1908)ttC>ttT	p.F636F	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	636						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCAGTGACTTCATCAGTCGGA	0.453000														52			11		0	0	6.40141e-05	0	0
C1orf116	79098	broad.mit.edu	37	1	207196511	207196511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:207196511G>A	uc001hfd.2	-	3	857	c.598C>T	c.(598-600)Ccg>Tcg	p.P200S	C1orf116_uc009xcb.1_5'UTR|C1orf116_uc021pii.1_5'Flank	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	200						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GCTTCTGGCGGAGGGATGAGC	0.657000														95			14		0	0	0.000151284	0	0
ACR	49	broad.mit.edu	37	22	51182622	51182622	+	Silent	SNP	C	T	T	rs145267492	byFrequency	TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr22:51182622C>T	uc003bnh.4	+	3	711	c.699C>T	c.(697-699)atC>atT	p.I233I		NM_001097	NP_001088	P10323	ACRO_HUMAN	Homo sapiens acrosin (ACR), mRNA.	233	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		TAGGCAAGATCGACACCTGCC	0.587000														39			5		0	0	3.59834e-05	0	0
TRBV19	28568	broad.mit.edu	37	7	142326843	142326843	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:142326843C>T	uc003vzo.2	+	1	336	c.141C>T	c.(139-141)aaC>aaT	p.N47N	TRBV5-1_uc011krr.1_Intron|TRBV19_uc022anp.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGAATTTGAACCACGATGCCA	0.468000														114			36		0	0	0.000953801	0	0
OR4C3	256144	broad.mit.edu	37	11	48346606	48346606	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:48346606C>T	uc010rhv.2	+	0	114	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CAGAATTTTTCATGCTGGGGC	0.418000														84			8		0	0	0.000157383	0	0
RPRD2	23248	broad.mit.edu	37	1	150444095	150444095	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:150444095C>T	uc009wlr.3	+	10	2872	c.2671C>T	c.(2671-2673)Cca>Tca	p.P891S	RPRD2_uc010pcc.1_Missense_Mutation_p.P865S|RPRD2_uc001eup.4_Missense_Mutation_p.P865S	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	891	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGCCTTCCCTCCATCTGTAAG	0.517000														67			12		0	0	6.40141e-05	0	0
GLYCTK	132158	broad.mit.edu	37	3	52326291	52326291	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:52326291C>T	uc003ddo.3	+	4	817	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	GLYCTK_uc003ddq.2_Missense_Mutation_p.P182L|GLYCTK_uc003ddm.3_Non-coding_Transcript|GLYCTK_uc003ddn.3_Intron|GLYCTK_uc003ddp.1_Silent_p.L241L|GLYCTK_uc003ddr.3_5'Flank	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	Homo sapiens glycerate kinase (GLYCTK), transcript variant 1, mRNA.	241					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GAGCCTCATCCTGTCAGATGT	0.592000														41			6		0	0	8.12818e-05	0	0
AGAP9	642517	broad.mit.edu	37	10	47193377	47193377	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr10:47193377T>C	uc009xnf.2	-	7	854	c.742A>G	c.(742-744)Atg>Gtg	p.M248V	AGAP9_uc001jei.3_Non-coding_Transcript	NM_001190810	NP_001177739	D3YTF3	D3YTF3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 (AGAP9), mRNA.	248					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GACCAGCGCATGGACAGCTTG	0.582000														12			4		0	0	8.12818e-05	0	0
RGS21	431704	broad.mit.edu	37	1	192335244	192335244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:192335244C>T	uc001gsh.3	+	4	623	c.449C>T	c.(448-450)cCt>cTt	p.P150L		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	150					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						AAATGGCTCCCTTTTTTGTGA	0.333000														33			11		0	0	6.40141e-05	0	0
CAD	790	broad.mit.edu	37	2	27456998	27456998	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:27456998C>T	uc002rji.3	+	21	3684	c.3522C>T	c.(3520-3522)atC>atT	p.I1174I	CAD_uc010eyw.3_Silent_p.I1111I	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1174	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'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	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|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)	CACAAGATATCACTGCCAAAA	0.557000														49			7		0	0	8.12818e-05	0	0
FGD5	152273	broad.mit.edu	37	3	14862002	14862002	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:14862002G>A	uc003bzc.3	+	0	1534	c.1424G>A	c.(1423-1425)aGg>aAg	p.R475K	FGD5_uc011avk.2_Missense_Mutation_p.R475K	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	475					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCCGCGGACAGGAAGAACACC	0.627000														52			11		0	0	0.000673444	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222821	140222821	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:140222821G>A	uc003lhs.2	+	0	1915	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.E639K	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	650	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCTGGACGAAGCGGACTC	0.647000														77			24		0	0	0.000720815	0	0
ITGA9	3680	broad.mit.edu	37	3	37785434	37785434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:37785434C>T	uc003chd.3	+	21	2395	c.2342C>T	c.(2341-2343)tCc>tTc	p.S781F		NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	781					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TCTCCAACCTCCTTTGTATAT	0.488000														72			7		0	0	0.000274275	0	0
OPLAH	26873	broad.mit.edu	37	8	145106331	145106331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:145106331C>T	uc003zar.3	-	27	3845	c.3763G>A	c.(3763-3765)Gac>Aac	p.D1255N		NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	1255							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TCCTCCGGGTCCCCATAGCCA	0.741000														17			7		0	0	0.000274275	0	0
RELB	5971	broad.mit.edu	37	19	45540674	45540674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:45540674C>T	uc021uvq.1	+	11	1497	c.1366C>T	c.(1366-1368)Ccg>Tcg	p.P456S	RELB_uc021uvp.1_Missense_Mutation_p.P453S|CLASRP_uc002pak.3_5'Flank|CLASRP_uc002pal.3_5'Flank|CLASRP_uc010xxh.2_5'Flank|CLASRP_uc002pam.3_5'Flank|CLASRP_uc002pan.1_5'Flank	NM_006509	NP_006500	Q01201	RELB_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.	456						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CCCGTTCCTCCCGCCGTCAGC	0.592000														183			26		0	0	0.000147802	0	0
TRPM6	140803	broad.mit.edu	37	9	77417015	77417015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr9:77417015C>T	uc004ajl.1	-	15	2046	c.1808G>A	c.(1807-1809)gGc>gAc	p.G603D	TRPM6_uc004ajk.1_Missense_Mutation_p.G598D|TRPM6_uc022bib.1_Missense_Mutation_p.G598D|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	603					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						GTAAAGAAAGCCAGTAGACTC	0.423000														37			10		0	0	0.000673444	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802785	185802785	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:185802785C>T	uc002uph.3	+	3	3256	c.2662C>T	c.(2662-2664)Cct>Tct	p.P888S		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	888						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						CAATCTCCTTCCTTCTGAAAC	0.393000														55			10		0	0	0.000442599	0	0
TLL1	7092	broad.mit.edu	37	4	166916254	166916254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:166916254G>A	uc003irh.2	+	4	1203	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	TLL1_uc021xud.1_Missense_Mutation_p.E186K|TLL1_uc011cjn.2_Missense_Mutation_p.E186K|TLL1_uc011cjo.2_Missense_Mutation_p.E10K	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	186	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAGGCACTGGGAAAAGCACAC	0.448000														145			33		0	0	0.000409698	0	0
AGXT2	64902	broad.mit.edu	37	5	34998865	34998865	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:34998865G>A	uc003jjf.3	-	13	1747	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C	AGXT2_uc003jje.1_Missense_Mutation_p.R155C|AGXT2_uc011com.2_Missense_Mutation_p.R427C	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	502					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.R502H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	AAGGCAGAACGAAATACTTCT	0.378000														65			10		0	0	0.000673444	0	0
ABCC8	6833	broad.mit.edu	37	11	17450174	17450174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:17450174C>T	uc001mnc.3	-	12	1987	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	621					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CACTGCTCCTCACGGATCTCT	0.652000														93			14		0	0	0.000566183	0	0
CCR6	1235	broad.mit.edu	37	6	167550187	167550187	+	Nonsense_Mutation	SNP	C	T	T	rs139697820		TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr6:167550187C>T	uc003qvl.3	+	12	2945	c.469C>T	c.(469-471)Cga>Tga	p.R157*	CCR6_uc010kkm.3_Nonsense_Mutation_p.R157*|CCR6_uc003qvn.4_Nonsense_Mutation_p.R157*|CCR6_uc003qvm.4_Nonsense_Mutation_p.R157*	NM_031409	NP_113597	P51684	CCR6_HUMAN	Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA.	157					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		ATTCCGGCTCCGATCCAGAAC	0.488000														55			12		0	0	0.00010058	0	0
CHGB	1114	broad.mit.edu	37	20	5897564	5897564	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr20:5897564G>A	uc002wmg.3	+	3	496	c.190_splice	c.e3+1	p.S64_splice	CHGB_uc010zqz.2_Intron	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	64						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TCCTGAAGACGAGTAAGTGTC	0.552000														30			4		0	0	3.59834e-05	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457481	110457481	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:110457481G>A	uc003yne.3	+	37	5487	c.5383G>A	c.(5383-5385)Gaa>Aaa	p.E1795K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1795	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGAGGTTAATGAAAACAACAT	0.423000										HNSCC(38;0.096)				81			13		0	0	0.000308642	0	0
KIF14	9928	broad.mit.edu	37	1	200522523	200522523	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:200522523C>T	uc010ppk.1	-	29	5379	c.4940G>A	c.(4939-4941)tGg>tAg	p.W1647*	KIF14_uc010ppj.1_Nonsense_Mutation_p.W1156*	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	1647	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TATTCACACCCACTGAATCCT	0.448000														110			16		0	0	0.000958276	0	0
COL6A3	1293	broad.mit.edu	37	2	238285737	238285737	+	Silent	SNP	C	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:238285737C>A	uc002vwl.2	-	6	3033	c.2748G>T	c.(2746-2748)ctG>ctT	p.L916L	COL6A3_uc002vwo.2_Silent_p.L710L|COL6A3_uc010znj.1_Silent_p.L309L|COL6A3_uc002vwq.3_Silent_p.L710L|COL6A3_uc002vwr.3_Silent_p.L509L|COL6A3_uc010znk.1_Silent_p.L716L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	916	Nonhelical region.|VWFA 5.				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)		GCGCGTAGCCCAGGTTGAGGG	0.527000														59			12		6.40141e-05	0.000907621	6.40141e-05	1	0
ATP13A5	344905	broad.mit.edu	37	3	193039562	193039562	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:193039562G>A	uc011bsq.2	-	15	1823	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	608					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AGCGATCACGGACATCCTCTG	0.507000														49			9		0	0	0.000274275	0	0
PDZD4	57595	broad.mit.edu	37	X	153069219	153069219	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chrX:153069219G>A	uc004fja.1	-	7	2167	c.1917C>T	c.(1915-1917)acC>acT	p.T639T	PDZD4_uc004fiy.1_Silent_p.T558T|PDZD4_uc004fiz.1_Silent_p.T633T|PDZD4_uc004fix.2_Silent_p.T537T|PDZD4_uc011mze.1_Silent_p.T524T|PDZD4_uc022chy.1_Silent_p.T12T	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	633						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCACGTAGCGGGTTCCGTCGC	0.706000														26			12		0	0	0.000151284	0	0
IPO4	79711	broad.mit.edu	37	14	24652822	24652823	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr14:24652822_24652823GG>AA	uc001wmv.1	-	19	3057_3058	c.2036_2037CC>TT	c.(2035-2037)gcc>gTT	p.A679V	IPO4_uc001wmt.1_Missense_Mutation_p.A157V|IPO4_uc001wmu.2_Missense_Mutation_p.A341V|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Missense_Mutation_p.A543V|IPO4_uc001wmy.1_Missense_Mutation_p.A543V|IPO4_uc001wmz.2_Missense_Mutation_p.A679V	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	679					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TCTCCCCCACGGCAGCACAGGT	0.574000														18			7		0	0	6.4e-05	0	0
ITIH1	3697	broad.mit.edu	37	3	52823754	52823754	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:52823754C>T	uc003dfs.3	+	18	2235	c.2205C>T	c.(2203-2205)atC>atT	p.I735I	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Silent_p.I593I|ITIH1_uc021wzg.1_Silent_p.I447I|ITIH1_uc021wzh.1_Silent_p.I447I|ITIH1_uc003dft.3_Silent_p.I336I	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	735	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GGCTGGGAATCGCAAACCCTG	0.577000														73			12		0	0	6.40141e-05	0	0
IFIT1B	439996	broad.mit.edu	37	10	91144016	91144016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr10:91144016G>A	uc001kgh.3	+	1	1026	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1B (IFIT1B), mRNA.	316							binding			endometrium(2)|large_intestine(3)|lung(8)	13						GCAAGATAGGGAAACTGTGGA	0.438000														54			8		0	0	0.000157383	0	0
CHD5	26038	broad.mit.edu	37	1	6206302	6206302	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:6206302C>T	uc001amb.2	-	10	1883	c.1772G>A	c.(1771-1773)tGg>tAg	p.W591*	CHD5_uc001ama.2_5'Flank|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	591					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)		AATCATCATCCACTCTGGCTT	0.577000														58			13		0	0	0.000566183	0	0
CTAGE11P	647288	broad.mit.edu	37	13	75814354	75814354	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr13:75814354C>G	uc010ths.2	-	0	164	c.123G>C	c.(121-123)tgG>tgC	p.W41C						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		CCACCAGTTCCCATGGAAAAC	0.488000														39			4		0	0	0.00024832	0	0
PHRF1	57661	broad.mit.edu	37	11	587263	587263	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:587263C>T	uc001lqe.3	+	3	350	c.219C>T	c.(217-219)tcC>tcT	p.S73S	PHRF1_uc010qwc.2_Silent_p.S73S|PHRF1_uc010qwd.2_Silent_p.S72S|PHRF1_uc010qwe.2_Silent_p.S69S	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	73							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CTCCAGGTTCCGAGGATTCTG	0.597000														13			4		0	0	0.000602214	0	0
DBC1	1620	broad.mit.edu	37	9	121929846	121929846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr9:121929846G>A	uc004bkc.2	-	7	2258	c.1802C>T	c.(1801-1803)aCt>aTt	p.T601I		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	601					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						CAGCAAAAGAGTCCAGTTGTA	0.547000														87			22		0	0	0.00047179	0	0
INPP5D	3635	broad.mit.edu	37	2	234072391	234072391	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:234072391C>T	uc010zmo.2	+	10	1345	c.1192C>T	c.(1192-1194)Ctc>Ttc	p.L398F	INPP5D_uc010zmp.2_Missense_Mutation_p.L397F	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	427					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GTCCTGGTTTCTCTCCAAGGG	0.547000														101			9		0	0	0.000442599	0	0
PDE8B	8622	broad.mit.edu	37	5	76707543	76707543	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:76707543A>G	uc003kfa.3	+	14	1618	c.1573A>G	c.(1573-1575)Aag>Gag	p.K525E	PDE8B_uc003kfd.3_Missense_Mutation_p.K478E|PDE8B_uc003kfe.3_Missense_Mutation_p.K428E|PDE8B_uc003kfb.3_Missense_Mutation_p.K505E|PDE8B_uc003kfc.3_Missense_Mutation_p.K470E	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	525					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TGTGTTTACTAAGAGTAAGTT	0.413000														320			69		0	0	0.000781405	0	0
C8B	732	broad.mit.edu	37	1	57397493	57397493	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:57397493G>A	uc001cyp.3	-	10	1678	c.1611C>T	c.(1609-1611)tcC>tcT	p.S537S	C8B_uc010oon.2_Silent_p.S475S|C8B_uc010ooo.2_Silent_p.S485S	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	537					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TCTTCCGATAGGAGACCTCAC	0.512000														29			8		0	0	0.000673444	0	0
ZNF76	7629	broad.mit.edu	37	6	35258133	35258133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr6:35258133C>T	uc003oki.1	+	5	728	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F	ZNF76_uc011dsy.1_Missense_Mutation_p.L175F|ZNF76_uc011dsz.1_Missense_Mutation_p.L175F|ZNF76_uc003okj.1_Missense_Mutation_p.L175F	NM_003427	NP_003418	P36508	ZNF76_HUMAN	Homo sapiens zinc finger protein 76 (ZNF76), mRNA.	175					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CTGTGGGCGTCTCTACACCAC	0.532000														186			24		0	0	0.000878237	0	0
SARS	6301	broad.mit.edu	37	1	109777939	109777939	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:109777939C>T	uc001dwu.2	+	6	955	c.855C>T	c.(853-855)ctC>ctT	p.L285L		NM_006513	NP_006504	P49591	SYSC_HUMAN	Homo sapiens seryl-tRNA synthetase (SARS), transcript variant 1, mRNA.	285					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|RNA binding|protein binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	ATGAGTGGCTCCGGCCGGAGG	0.592000														412			64		0	0	0.000781405	0	0
OSBP	5007	broad.mit.edu	37	11	59368790	59368790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:59368790C>T	uc001noc.1	-	4	1570	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	OSBP_uc009ymr.1_5'Flank	NM_002556	NP_002547	P22059	OSBP1_HUMAN	Homo sapiens oxysterol binding protein (OSBP), mRNA.	364					lipid transport	Golgi membrane	oxysterol binding	p.E364E(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GTGATGATCTCAGGTGCATCA	0.398000														39			7		0	0	0.000442599	0	0
YSK4	80122	broad.mit.edu	37	2	135744054	135744054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:135744054C>T	uc002tue.1	-	6	2419	c.2388G>A	c.(2386-2388)atG>atA	p.M796I	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.M683I|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.M524I|YSK4_uc002tui.4_Missense_Mutation_p.M813I	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	796							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		CATTCTGTTTCATGGACTGCT	0.393000														79			17		0	0	0.000566183	0	0
ALB	213	broad.mit.edu	37	4	74274451	74274451	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:74274451C>T	uc003hgs.4	+	3	484	c.411C>T	c.(409-411)ccC>ccT	p.P137P	ALB_uc011cbe.2_Intron|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Silent_p.P27P	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	137	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CAAACCTCCCCCGATTGGTGA	0.398000														32			4		0	0	0.000602214	0	0
FRK	2444	broad.mit.edu	37	6	116289877	116289877	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr6:116289877G>A	uc003pwi.1	-	2	939	c.492C>T	c.(490-492)caC>caT	p.H164H		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	164	SH2.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TAATTCTGTAGTGTTTTACAA	0.363000														72			13		0	0	0.000219431	0	0
ZNF578	147660	broad.mit.edu	37	19	53015138	53015138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:53015138C>T	uc002pzp.4	+	5	1748	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCCATGCCATCGTAGACTTCA	0.403000														49			6		0	0	3.59834e-05	0	0
RFX7	64864	broad.mit.edu	37	15	56386014	56386014	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr15:56386014G>A	uc010bfn.3	-	8	3912	c.3912C>T	c.(3910-3912)tcC>tcT	p.S1304S	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Silent_p.S1118S	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	1207					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CAGAAGTGCTGGAATCGATCA	0.418000														57			18		0	0	0.00074312	0	0
VWA3B	200403	broad.mit.edu	37	2	98810890	98810890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:98810890G>A	uc002syo.3	+	11	1936	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	VWA3B_uc010yvh.2_Missense_Mutation_p.E408K|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.E77K|VWA3B_uc002sym.3_Missense_Mutation_p.E558K|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.E215K|VWA3B_uc002syp.1_5'UTR	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	558	VWFA.							p.R557L(2)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGCTTGGCGGGAACAACTTGC	0.383000														204			36		0	0	0.000191422	0	0
ENAM	10117	broad.mit.edu	37	4	71507955	71507955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:71507955G>A	uc011caw.1	+	8	1093	c.812G>A	c.(811-813)gGa>gAa	p.G271E		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	271					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGCCCCACAGGAAACAGTACC	0.542000														39			6		0	0	3.59834e-05	0	0
TPTE	7179	broad.mit.edu	37	21	10906928	10906928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr21:10906928C>T	uc002yip.1	-	23	2001	c.1633G>A	c.(1633-1635)Gat>Aat	p.D545N	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.D527N|TPTE_uc002yir.1_Missense_Mutation_p.D507N|TPTE_uc010gkv.1_Missense_Mutation_p.D407N	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	545					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D527N(2)|p.D545N(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)		GCTACAACATCACTGGAAGTC	0.383000														45			5		0	0	0.000602214	0	0
EPHA7	2045	broad.mit.edu	37	6	93967240	93967240	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr6:93967240C>T	uc003poe.3	-	12	2352	c.2111_splice	c.e12-1	p.G704_splice	EPHA7_uc003pof.3_Splice_Site_p.G699_splice|EPHA7_uc011eac.2_Splice_Site_p.G700_splice	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	704	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGACTGGTTTCCCTAAAATTA	0.368000														53			8		0	0	0.000157383	0	0
SLIT2	9353	broad.mit.edu	37	4	20598237	20598237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr4:20598237C>T	uc003gpr.1	+	31	3724	c.3520C>T	c.(3520-3522)Cct>Tct	p.P1174S	SLIT2_uc003gps.1_Missense_Mutation_p.P1166S	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1174	Laminin G-like.				Roundabout signaling pathway|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|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan 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						TCTTCAGATTCCTTCAGCCAA	0.388000														42			5		0	0	3.59834e-05	0	0
SLC10A1	6554	broad.mit.edu	37	14	70245170	70245170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr14:70245170G>A	uc001xlr.2	-	3	957	c.823C>T	c.(823-825)Cca>Tca	p.P275S		NM_003049	NP_003040	Q14973	NTCP_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 1 (SLC10A1), mRNA.	275					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		ACTTCAGGTGGAAAGGCCACA	0.493000														59			15		0	0	0.000219431	0	0
CERS2	29956	broad.mit.edu	37	1	150941453	150941453	+	Silent	SNP	A	G	G			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:150941453A>G	uc001evy.3	-	1	540	c.114T>C	c.(112-114)gaT>gaC	p.D38D	CERS2_uc001evz.3_Silent_p.D38D|CERS2_uc009wmh.3_Intron	NM_181746	NP_859530	Q96G23	CERS2_HUMAN	Homo sapiens ceramide synthase 2 (CERS2), transcript variant 1, mRNA.	38						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TGATATAGAGATCTGAGGCTT	0.532000														82			8		0	0	0.000274275	0	0
SACS	26278	broad.mit.edu	37	13	23911699	23911699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr13:23911699G>A	uc001uon.2	-	9	6905	c.6316C>T	c.(6316-6318)Cct>Tct	p.P2106S	SACS_uc001uoo.2_Missense_Mutation_p.P1959S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2106					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAAACCAAAGGATGCCCCTCC	0.398000														27			5		0	0	0.000602214	0	0
PRUNE2	158471	broad.mit.edu	37	9	79244197	79244197	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr9:79244197G>A	uc010mpk.3	-	15	9184	c.9060C>T	c.(9058-9060)ttC>ttT	p.F3020F	PRUNE2_uc011lsk.2_Silent_p.F269F|PRUNE2_uc011lsl.2_Silent_p.F284F|PRUNE2_uc011lsm.2_Silent_p.F285F|PRUNE2_uc004akj.4_Silent_p.F474F|PRUNE2_uc022big.1_Non-coding_Transcript	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	3020	CRAL-TRIO.				G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTTTACTGCTGAATTTTGAAC	0.328000														19			5		0	0	3.59834e-05	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34028868	34028868	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:34028868G>A	uc003jio.3	-	3	832	c.691C>T	c.(691-693)Cca>Tca	p.P231S	C1QTNF3_uc003jim.3_Missense_Mutation_p.P38S|C1QTNF3_uc003jin.3_Missense_Mutation_p.P158S	NM_181435	NP_852100	Q9BXJ4	C1QT3_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 3 (C1QTNF3), transcript variant 2, mRNA.	158	C1q.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CCTGATACTGGGGCCCCAAAT	0.423000														42			7		0	0	0.000442599	0	0
ADORA3	140	broad.mit.edu	37	1	112043095	112043095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:112043095G>A	uc001ebh.4	-	1	1201	c.434C>T	c.(433-435)cCc>cTc	p.P145L	ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Intron	NM_000677	NP_000668	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA.	145					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GCCAAACATGGGGGTCAATCC	0.483000														88			18		0	0	0.000958276	0	0
ERRFI1	54206	broad.mit.edu	37	1	8073678	8073678	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:8073678C>T	uc001aoz.3	-	3	1230	c.981G>A	c.(979-981)ccG>ccA	p.P327P	ERRFI1_uc001apa.1_Silent_p.P252P	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	Homo sapiens ERBB receptor feedback inhibitor 1 (ERRFI1), mRNA.	327					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	Rho GTPase activator activity|protein kinase binding			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GCGAGTTACTCGGTGACAAAG	0.512000														126			22		0	0	0.000586117	0	0
SH3GL2	6456	broad.mit.edu	37	9	17786438	17786438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr9:17786438G>A	uc003zna.3	+	3	535	c.247G>A	c.(247-249)Ggg>Agg	p.G83R	SH3GL2_uc011lmx.1_Missense_Mutation_p.G48R|SH3GL2_uc011lmy.2_Missense_Mutation_p.G36R	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	83	BAR.|Binds and tubulates liposomes (By similarity).|Required for dimerization upon membrane association (By similarity).				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		CCAGGAGAAGGGGCCAGGCTA	0.502000														67			13		0	0	0.000308642	0	0
EPPK1	83481	broad.mit.edu	37	8	144946534	144946534	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:144946534G>A	uc003zaa.1	-	0	901	c.888C>T	c.(886-888)ggC>ggT	p.G296G		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	296						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.E295K(1)		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)			TCTTCTTGTGGCCTTCGGGCA	0.687000														62			13		0	0	0.000422831	0	0
ASB15	142685	broad.mit.edu	37	7	123277012	123277012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:123277012G>A	uc003vku.1	+	11	2036	c.1744G>A	c.(1744-1746)Gga>Aga	p.G582R	ASB15_uc003vkw.1_Missense_Mutation_p.G582R	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	582					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TGATCTCTATGGACAAGAGCT	0.333000														53			10		0	0	0.000673444	0	0
CDK4	1019	broad.mit.edu	37	12	58145436	58145436	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr12:58145436T>A	uc001spv.3	-	1	357	c.65A>T	c.(64-66)aAg>aTg	p.K22M	CDK4_uc010ssb.2_5'UTR|CDK4_uc001spw.3_Non-coding_Transcript|DM110804_uc010ssc.1_Non-coding_Transcript	NM_000075	NP_000066	P11802	CDK4_HUMAN	Homo sapiens cyclin-dependent kinase 4 (CDK4), mRNA.	22	Protein kinase.				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.K22R(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			ATCACGGGCCTTGTACACTGT	0.557000			Mis			melanoma			Hereditary Melanoma					33			12		0	0	0.00010058	0	0
CA8	767	broad.mit.edu	37	8	61178492	61178492	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:61178492G>A	uc003xtz.1	-	2	657	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	CA8_uc003xua.1_Missense_Mutation_p.P137S|CA8_uc003xub.3_Missense_Mutation_p.P137S	NM_004056	NP_004047	P35219	CAH8_HUMAN	Homo sapiens carbonic anhydrase VIII (CA8), mRNA.	137					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				ACCTCCATGGGAAAAGCTTTG	0.358000														36			4		0	0	0.00024832	0	0
OR8K5	219453	broad.mit.edu	37	11	55927529	55927529	+	Nonsense_Mutation	SNP	G	A	A	rs147577134		TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:55927529G>A	uc010rja.2	-	0	265	c.265C>T	c.(265-267)Cga>Tga	p.R89*		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R89R(2)|p.D88E(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATAGTATTTCGATCCACAACA	0.393000														68			16		0	0	0.000422831	0	0
SEMA5A	9037	broad.mit.edu	37	5	9154652	9154652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:9154652C>T	uc003jek.2	-	11	2141	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	477	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ACCACGTGCTCCCGCAGGCCC	0.612000														48			6		0	0	8.12818e-05	0	0
CNTN4	152330	broad.mit.edu	37	3	3081846	3081846	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:3081846G>A	uc003bpc.3	+	19	2628	c.2289G>A	c.(2287-2289)agG>agA	p.R763R	CNTN4_uc003bpb.1_Silent_p.R434R|CNTN4_uc021wsg.1_Silent_p.R763R|CNTN4_uc003bpe.3_Silent_p.R435R|CNTN4_uc003bpf.3_Silent_p.R434R|CNTN4_uc003bpg.3_Silent_p.R19R	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	763	Fibronectin type-III 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ACGTGTTCAGGAATGAGAGCG	0.522000														82			16		0	0	0.000566183	0	0
GRM8	2918	broad.mit.edu	37	7	126249460	126249460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr7:126249460C>T	uc003vlr.2	-	6	1761	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.E484K|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	484					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ACTTTGTACTCTGTGCTTTTG	0.403000										HNSCC(24;0.065)				112			24		0	0	0.000720815	0	0
STYK1	55359	broad.mit.edu	37	12	10774478	10774478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr12:10774478G>A	uc001qys.2	-	9	1582	c.1061C>T	c.(1060-1062)aCc>aTc	p.T354I		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	354	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.H353R(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CACTTACATGGTATGTGTGCA	0.468000										HNSCC(73;0.22)				82			15		0	0	0.000422831	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153312982	153312982	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:153312982C>T	uc001fbo.3	-	6	764	c.699G>A	c.(697-699)gcG>gcA	p.A233A	PGLYRP4_uc001fbp.3_Silent_p.A229A	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	233					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCATACTTCGCTGGGAGAG	0.597000														28			6		0	0	8.12818e-05	0	0
GRHL2	79977	broad.mit.edu	37	8	102555576	102555576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr8:102555576C>T	uc010mbu.3	+	1	458	c.128C>T	c.(127-129)cCc>cTc	p.P43L	GRHL2_uc010mbt.1_Missense_Mutation_p.P43L|GRHL2_uc011lhi.1_Missense_Mutation_p.P43L	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	43	Transcription activation.					cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TTGGAGAATCCCCTGACAGCA	0.542000														85			8		0	0	0.000274275	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64511225	64511225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:64511225G>A	uc003jtp.3	-	18	3176	c.2362C>T	c.(2362-2364)Cat>Tat	p.H788Y	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.H409Y	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	788	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CTCTTGTAATGAAAAGCTGTC	0.393000														55			9		0	0	0.000442599	0	0
LCLAT1	253558	broad.mit.edu	37	2	30748459	30748459	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:30748459G>T	uc002rnj.3	+	2	326	c.117G>T	c.(115-117)atG>atT	p.M39I	LCLAT1_uc010ymp.2_Intron|LCLAT1_uc002rnk.1_Missense_Mutation_p.M39I|LCLAT1_uc002rnl.3_Missense_Mutation_p.M1I|LCLAT1_uc010ymq.2_Missense_Mutation_p.M1I	NM_182551	NP_001002257	Q6UWP7	LCLT1_HUMAN	Homo sapiens lysocardiolipin acyltransferase 1 (LCLAT1), transcript variant 1, mRNA.	39					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						TCAGAATCATGGTGTCATGGA	0.328000														93			8		5.18039e-06	7.36981e-05	0.000157383	1	0
ZBTB40	9923	broad.mit.edu	37	1	22817048	22817048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:22817048C>T	uc001bft.2	+	2	1118	c.607C>T	c.(607-609)Cca>Tca	p.P203S	ZBTB40_uc001bfu.2_Missense_Mutation_p.P203S|ZBTB40_uc009vqi.1_Missense_Mutation_p.P203S	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	203					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGCAGAAACCCCAGCGGAGAC	0.522000														88			17		0	0	0.000422831	0	0
CCR3	1232	broad.mit.edu	37	3	46307036	46307036	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr3:46307036C>T	uc003cpl.2	+	2	1517	c.486C>T	c.(484-486)atC>atT	p.I162I	CCR3_uc003cpg.2_Silent_p.I129I|CCR3_uc003cpk.2_Silent_p.I150I|CCR3_uc003cpi.2_Silent_p.I129I|CCR3_uc010hjb.2_Silent_p.I147I|CCR3_uc003cpj.2_Silent_p.I129I|CCR3_uc021wwz.1_Silent_p.I129I	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	129					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TGCTGACAATCGACAGGTACC	0.522000														55			19		0	0	0.000958276	0	0
OASL	8638	broad.mit.edu	37	12	121471302	121471302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr12:121471302G>A	uc001tzj.1	-	1	449	c.443C>T	c.(442-444)cCc>cTc	p.P148L	OASL_uc001tzk.1_Missense_Mutation_p.P148L	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	148					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACCGTGATGGGCTCCGCAGT	0.632000														127			26		0	0	0.000147802	0	0
SLC12A3	6559	broad.mit.edu	37	16	56899360	56899360	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr16:56899360C>T	uc002ekd.4	+	0	242	c.213C>T	c.(211-213)gcC>gcT	p.A71A	SLC12A3_uc010ccm.3_Silent_p.A71A|SLC12A3_uc010ccn.3_Silent_p.A71A	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	71					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	AGCACTATGCCAACAGCACCC	0.597000														83			10		0	0	0.000442599	0	0
ZNF638	27332	broad.mit.edu	37	2	71577070	71577070	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr2:71577070C>T	uc002shx.3	+	1	1309	c.986C>T	c.(985-987)cCt>cTt	p.P329L	ZNF638_uc010fec.2_Missense_Mutation_p.P435L|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Missense_Mutation_p.P329L|ZNF638_uc002shz.3_Missense_Mutation_p.P329L|ZNF638_uc002shy.3_Missense_Mutation_p.P329L|ZNF638_uc002sia.3_Missense_Mutation_p.P329L|ZNF638_uc002sib.1_Missense_Mutation_p.P329L	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	329					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTCTGATTCCTCCATCTATG	0.413000														147			17		0	0	0.000132079	0	0
OR2M3	127062	broad.mit.edu	37	1	248366886	248366886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:248366886G>A	uc010pzg.2	+	0	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R172L(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGGTCTCGGGAAATAGCCCA	0.418000														108			25		0	0	0.00047179	0	0
MGA	23269	broad.mit.edu	37	15	42057258	42057258	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr15:42057258C>A	uc010ucy.2	+	22	8100	c.7919C>A	c.(7918-7920)cCa>cAa	p.P2640Q	MGA_uc010ucz.2_Missense_Mutation_p.P2431Q	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2601						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTGGCTCTACCAGGTATGTTG	0.443000														160			9		0.000274275	0.00386278	0.000274275	1	0
GFRAL	389400	broad.mit.edu	37	6	55264062	55264062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr6:55264062C>T	uc003pcm.1	+	6	1123	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	346						integral to membrane	receptor activity	p.H345Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGATTTCATTCCCCCTTCAAT	0.284000														28			7		0	0	0.000274275	0	0
SNX15	29907	broad.mit.edu	37	11	64802341	64802341	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr11:64802341C>T	uc001oci.4	+	6	933	c.279C>T	c.(277-279)atC>atT	p.I93I	SNX15_uc001ock.3_Silent_p.I93I	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	Homo sapiens sorting nexin 15 (SNX15), transcript variant A, mRNA.	93	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CCTCAGTGATCGAGGAGCGGC	0.617000														40			7		0	0	0.000673444	0	0
MAGI3	260425	broad.mit.edu	37	1	114189223	114189223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:114189223C>T	uc001edk.3	+	11	2295	c.2114C>T	c.(2113-2115)tCt>tTt	p.S705F	MAGI3_uc001edh.3_Missense_Mutation_p.S730F|MAGI3_uc001edi.4_Missense_Mutation_p.S705F|MAGI3_uc010owm.2_Missense_Mutation_p.S730F|MAGI3_uc001edj.3_Missense_Mutation_p.S426F	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	730					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGATCCTTCTGAGGTCTAC	0.378000														60			14		0	0	0.000422831	0	0
TCHH	7062	broad.mit.edu	37	1	152082565	152082565	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr1:152082565A>C	uc009wne.1	-	2	3400	c.3128T>G	c.(3127-3129)cTc>cGc	p.L1043R	TCHH_uc001ezp.2_Missense_Mutation_p.L1043R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1043	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.L1043R(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGCTCCTGGAGTCTTCTTTT	0.592000														62			4		0	0	0.00024832	0	0
KIF25	3834	broad.mit.edu	37	6	168443323	168443323	+	Silent	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr6:168443323G>A	uc003qwk.1	+	7	1174	c.912G>A	c.(910-912)ggG>ggA	p.G304G	KIF25_uc003qwl.1_Intron	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	304					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCGTCCTGGGGGCTTTGTTGG	0.657000														86			11		0	0	6.40141e-05	0	0
COL5A3	50509	broad.mit.edu	37	19	10097052	10097052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr19:10097052C>T	uc002mmq.1	-	29	2377	c.2291G>A	c.(2290-2292)gGg>gAg	p.G764E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	764	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCCCTTCGGCCCCTCAGGACC	0.607000														15			4		0	0	0.00024832	0	0
ACSBG1	23205	broad.mit.edu	37	15	78466040	78466040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr15:78466040C>T	uc002bdh.3	-	12	2190	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K	ACSBG1_uc010umx.2_Missense_Mutation_p.E420K|ACSBG1_uc010umw.2_Missense_Mutation_p.E658K	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	662					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						ATCCCCTCTTCGATGGCCTGG	0.582000														36			9		0	0	0.000274275	0	0
OSMR	9180	broad.mit.edu	37	5	38886238	38886238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr5:38886238G>A	uc003jln.2	+	6	1339	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	OSMR_uc003jlm.2_Missense_Mutation_p.E313K	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	313					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ACTCATAGCTGAAAATTACTT	0.393000														70			13		0	0	0.000308642	0	0
CNKSR2	22866	broad.mit.edu	37	X	21624974	21624974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chrX:21624974G>A	uc004czx.2	+	18	2602	c.2122G>A	c.(2122-2124)Gat>Aat	p.D708N	CNKSR2_uc004czw.3_Missense_Mutation_p.D708N|CNKSR2_uc011mjn.2_Missense_Mutation_p.D659N|CNKSR2_uc011mjo.2_Missense_Mutation_p.D678N|CNKSR2_uc004czy.3_Missense_Mutation_p.D300N	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	708					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ACCCCCATATGATACATACCC	0.403000														25			18		0	0	0.000958276	0	0
C14orf159	80017	broad.mit.edu	37	14	91642291	91642291	+	Silent	SNP	C	T	T			TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr14:91642291C>T	uc001xyw.2	+	6	973	c.621C>T	c.(619-621)atC>atT	p.I207I	C14orf159_uc010atv.1_Non-coding_Transcript|C14orf159_uc001xyy.2_Silent_p.I207I|C14orf159_uc001xyz.2_Silent_p.I78I|C14orf159_uc001xzb.2_Silent_p.I202I|C14orf159_uc001xyx.2_Silent_p.I190I|C14orf159_uc001xzc.2_Silent_p.I202I|C14orf159_uc001xza.2_Silent_p.I207I|C14orf159_uc001xyv.2_Silent_p.I207I|C14orf159_uc001xze.2_Silent_p.I202I	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA.	202						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TGTTGGGAATCAAAGAGCTTT	0.488000														66			11		0	0	0.000219431	0	0
GJC1	10052	broad.mit.edu	37	17	42882796	42882796	+	Silent	SNP	C	T	T	rs45478503	byFrequency	TCGA-EE-A2MG-06A-11D-A197-08	TCGA-EE-A2MG-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	625ea078-f2fa-4061-9b16-5eff81558723	18363141-4118-43b1-b80b-165b1b0456c2	g.chr17:42882796C>T	uc002ihj.3	-	1	901	c.390G>A	c.(388-390)acG>acA	p.T130T	GJC1_uc002ihk.3_Silent_p.T130T|GJC1_uc002ihl.3_Silent_p.T130T|GJC1_uc021tyf.1_Silent_p.T130T	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	130					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		p.E129*(1)		NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TGTCCTCCTCCGTTTCTTCCA	0.483000														73			19		0	0	0.000175454	0	0
