Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MYLIP	29116	broad.mit.edu	37	6	16143330	16143330	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr6:16143330A>G	uc003nbq.3	+	3	781	c.544A>G	c.(544-546)Atg>Gtg	p.M182V	MYLIP_uc003nbr.3_Missense_Mutation_p.M1V	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	182	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			TGTGTCGGCAATGGAAAACTA	0.473000													61	60					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85411510	85411510	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr15:85411510G>C	uc002ble.3	+	13	5714	c.5547G>C	c.(5545-5547)agG>agC	p.R1849S	ALPK3_uc010upc.2_Missense_Mutation_p.R150S	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1849					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTGCTGGCAGGAAAGGCTCCC	0.627000													34	42					0	0	1	0	0
ARCN1	372	broad.mit.edu	37	11	118464375	118464375	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr11:118464375T>G	uc009zag.3	+	8	1528	c.1326T>G	c.(1324-1326)aaT>aaG	p.N442K	ARCN1_uc001ptq.3_Missense_Mutation_p.N401K|ARCN1_uc010ryg.2_Missense_Mutation_p.N313K	NM_001142281	NP_001135753	P48444	COPD_HUMAN	Homo sapiens archain 1 (ARCN1), transcript variant 2, mRNA.	401	MHD.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|clathrin adaptor complex|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AAGAAGATAATTTAGAACTGA	0.438000													32	38					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36069579	36069579	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr4:36069579G>A	uc003gsq.2	-	32	5403	c.5065C>T	c.(5065-5067)Cgg>Tgg	p.R1689W	ARAP2_uc003gso.3_Intron	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1689					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTTCTTGACCGTTGTAGAACC	0.358000													21	33					0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921405	24921405	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr15:24921405C>T	uc001ywo.3	+	0	865	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	131					cell differentiation|multicellular organismal development|spermatogenesis			p.R131C(2)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GCCTTCACCACGTGAGCCGGC	0.627000													18	37					0	0	1	0	0
C15orf52	388115	broad.mit.edu	37	15	40631768	40631768	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr15:40631768G>A	uc001zlh.4	-	2	324	c.308C>T	c.(307-309)aCa>aTa	p.T103I	C15orf52_uc001zli.1_5'UTR|C15orf52_uc010ucn.2_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	103										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GAGTGCTGGTGTGGTCACAGC	0.662000													42	53					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134019825	134019825	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr9:134019825G>C	uc004cag.3	+	11	1564	c.1453G>C	c.(1453-1455)Ggt>Cgt	p.G485R	NUP214_uc004cah.3_Missense_Mutation_p.G485R|NUP214_uc004cai.3_5'UTR|NUP214_uc004caf.1_Missense_Mutation_p.G485R|NUP214_uc010mzf.3_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	485	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GTTCTCCTTTGGTTCTTCATC	0.577000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								23	40					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138880882	138880882	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chrX:138880882A>C	uc004faz.3	-	8	839	c.740T>G	c.(739-741)cTc>cGc	p.L247R	ATP11C_uc004fay.3_5'Flank|ATP11C_uc004fba.3_Missense_Mutation_p.L247R	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	247					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTTCAGCAAGAGATTTTCAGG	0.368000													36	7					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53959526	53959526	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr19:53959526T>G	uc010eqp.3	+	6	2223	c.1765T>G	c.(1765-1767)Ttc>Gtc	p.F589V	ZNF761_uc010ydy.2_Missense_Mutation_p.F535V|ZNF761_uc002qbt.2_Missense_Mutation_p.F535V	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A588S(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AGCTTACAGTTTCAAATCAAA	0.403000													42	48					0	0	1	0	0
LPL	4023	broad.mit.edu	37	8	19811710	19811710	+	Silent	SNP	C	C	T	rs118204076		TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr8:19811710C>T	uc003wzk.4	+	4	991	c.621C>T	c.(619-621)gaC>gaT	p.D207D		NM_000237	NP_000228	P06858	LIPL_HUMAN	Homo sapiens lipoprotein lipase (LPL), mRNA.	207			D -> E (in LPL deficiency).		fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	ATTTTGTAGACGTCTTACACA	0.483000													60	61					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220349151	220349151	+	Silent	SNP	C	C	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr2:220349151C>T	uc010fwg.3	+	29	6966	c.6966C>T	c.(6964-6966)agC>agT	p.S2322S		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2322					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTCTCAGTAGCAGCATCGAAA	0.692000													9	19					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70202285	70202285	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr11:70202285A>T	uc001opo.3	+	18	2722	c.2507A>T	c.(2506-2508)gAt>gTt	p.D836V	PPFIA1_uc001opn.2_Missense_Mutation_p.D836V|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	836					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCCGAGACGGATAACTCATCT	0.398000													37	63					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27959441	27959441	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr17:27959441T>A	uc002heo.1	-	14	2690	c.2690A>T	c.(2689-2691)aAg>aTg	p.K897M	SSH2_uc010wbh.1_Missense_Mutation_p.K924M	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	897					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTTGAATTCTTACGAGTGGA	0.502000													83	63					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53245084	53245084	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chrX:53245084T>C	uc004drz.3	-	6	1389	c.856A>G	c.(856-858)Aca>Gca	p.T286A	KDM5C_uc022bxe.1_Missense_Mutation_p.T219A|KDM5C_uc004dsa.3_Missense_Mutation_p.T285A	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	286					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TTAGGCGATGTTGACTCCACC	0.547000			"""N, F, S"""		clear cell renal carcinoma								67	20					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227182674	227182674	+	Silent	SNP	G	G	A	rs16846779	byFrequency	TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr1:227182674G>A	uc001hqr.3	-	34	5821	c.4878C>T	c.(4876-4878)tcC>tcT	p.S1626S	CDC42BPA_uc001hqq.3_Silent_p.S925S|CDC42BPA_uc001hqs.3_Silent_p.S1545S|CDC42BPA_uc009xes.3_Silent_p.S1598S|CDC42BPA_uc010pvs.2_Silent_p.S1606S|CDC42BPA_uc001hqp.3_Silent_p.S844S	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	1639					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.S1545S(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CATTCTGTGCGGATGACCCTA	0.522000													3	55					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535264	96535264	+	Missense_Mutation	SNP	G	G	A	rs58973490	byFrequency	TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr10:96535264G>A	uc010qnz.2	+	2	449	c.449G>A	c.(448-450)cGc>cAc	p.R150H	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.R128H	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	150			R -> H (in allele CYP2C19*11; dbSNP:rs58973490).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.R150S(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAGGAAGCCCGCTGCCTTGTG	0.512000													6	240					0	0	1	0	0
CCDC9	26093	broad.mit.edu	37	19	47767895	47767895	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr19:47767895G>T	uc010xym.2	+	5	705	c.498G>T	c.(496-498)aaG>aaT	p.K166N		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	Homo sapiens coiled-coil domain containing 9 (CCDC9), mRNA.	166										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		ACATTGAGAAGATGAATGAGG	0.617000													12	24					2.23348e-06	2.25274e-06	1	1	0
PSG4	5672	broad.mit.edu	37	19	43708130	43708130	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr19:43708130G>A	uc002ovy.3	-	1	440	c.338C>T	c.(337-339)aCg>aTg	p.T113M	PSG4_uc002ovz.3_Missense_Mutation_p.T113M|PSG4_uc002owb.3_Missense_Mutation_p.T113M	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	113	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ATCCTCCTGCGTGACATTCTG	0.458000													82	179					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160825863	160825863	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr2:160825863C>G	uc002ube.2	-	18	2880	c.2668G>C	c.(2668-2670)Gat>Cat	p.D890H	PLA2R1_uc010zcp.2_Missense_Mutation_p.D890H|PLA2R1_uc002ubf.3_Missense_Mutation_p.D890H	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	890	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGTGTTCCATCTCTCCAGCTG	0.408000													9	26					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16941145	16941145	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr10:16941145G>C	uc001ioo.3	-	53	8500	c.8448C>G	c.(8446-8448)atC>atG	p.I2816M	CUBN_uc009xjq.1_Non-coding_Transcript|CUBN_uc009xjr.1_Missense_Mutation_p.I172M	NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2816	CUB 21.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGGGGATCTGATTGTACCAT	0.403000													26	41					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80730767	80730767	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr12:80730767A>T	uc001szd.3	+	40	4822	c.4816A>T	c.(4816-4818)Aat>Tat	p.N1606Y		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AATAATTGTCAATCGGTTGGC	0.279000													3	6					0	0	1	0	0
CALCB	797	broad.mit.edu	37	11	15096663	15096663	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr11:15096663T>A	uc001mlx.1	+	2	216	c.143T>A	c.(142-144)cTc>cAc	p.L48H	CALCB_uc009ygr.1_Missense_Mutation_p.L48H	NM_000728	NP_000719	P10092	CALCB_HUMAN	Homo sapiens calcitonin-related polypeptide beta (CALCB), mRNA.	48					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						GACGCGCGCCTCCTGCTGGCT	0.627000											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	135	188					0	0	1	0	0
GPSM2	29899	broad.mit.edu	37	1	109439646	109439646	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr1:109439646T>G	uc010ovc.2	+	2	713	c.217T>G	c.(217-219)Ttc>Gtc	p.F73V	AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_Missense_Mutation_p.F73V|GPSM2_uc010ove.1_Missense_Mutation_p.F73V	NM_013296	NP_037428	P81274	GPSM2_HUMAN	Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA.	73					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CAATGCTTATTTCTATTTGCA	0.378000													22	32					0	0	1	0	0
BHLHE41	79365	broad.mit.edu	37	12	26276658	26276658	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr12:26276658T>C	uc001rhb.3	-	3	542	c.251A>G	c.(250-252)gAg>gGg	p.E84G	BHLHE41_uc021qwg.1_5'Flank	NM_030762	NP_110389	Q9C0J9	BHE41_HUMAN	Homo sapiens basic helix-loop-helix family, member e41 (BHLHE41), mRNA.	84	Helix-loop-helix motif.				cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						TACAGCTTTCTCCAGATGTCC	0.408000													14	24					0	0	1	0	0
FAM13B	51306	broad.mit.edu	37	5	137354741	137354741	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr5:137354741T>C	uc003lbz.2	-	2	594	c.60A>G	c.(58-60)atA>atG	p.I20M	FAM13B_uc003lcb.2_Intron|FAM13B_uc003lca.2_Missense_Mutation_p.I20M	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	20					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						GAATTCCAAATATTTTGTTAG	0.448000													86	98					0	0	1	0	0
ZBTB1	22890	broad.mit.edu	37	14	64988346	64988346	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr14:64988346C>G	uc021rul.1	+	0	124	c.124C>G	c.(124-126)Cta>Gta	p.L42V	ZBTB1_uc001xhh.4_Missense_Mutation_p.L42V|ZBTB1_uc010aqg.3_Missense_Mutation_p.L42V|ZBTB1_uc001xhi.2_Missense_Mutation_p.L42V	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN	Homo sapiens zinc finger and BTB domain containing 1 (ZBTB1), transcript variant 1, mRNA.	42	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CAAGGCAGTTCTAGCTGCCTG	0.393000													22	45					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739650	15739650	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr19:15739650C>G	uc002nbi.3	+	12	1455	c.1391C>G	c.(1390-1392)cCc>cGc	p.P464R	CYP4F8_uc010xoj.2_Missense_Mutation_p.P277R	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	465					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TCGGCGGGGCCCAGGTGAGGC	0.582000													21	23					0	0	1	0	0
ZNF436	80818	broad.mit.edu	37	1	23693623	23693623	+	Silent	SNP	G	G	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr1:23693623G>A	uc001bgt.3	-	1	453	c.72C>T	c.(70-72)acC>acT	p.T24T	ZNF436_uc001bgu.3_Silent_p.T24T|C1orf213_uc001bgw.3_5'Flank|C1orf213_uc021oif.1_5'Flank	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN	Homo sapiens zinc finger protein 436 (ZNF436), transcript variant 2, mRNA.	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ATTCTTCCCGGGTGAGATACA	0.438000													35	61					0	0	1	0	0
FAM53B	9679	broad.mit.edu	37	10	126311947	126311947	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr10:126311947G>A	uc001lhv.1	-	4	1656	c.1133C>T	c.(1132-1134)tCa>tTa	p.S378L	FAM53B_uc001lhu.1_Intron	NM_014661	NP_055476	Q14153	FA53B_HUMAN	Homo sapiens family with sequence similarity 53, member B (FAM53B), mRNA.	378										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GCAGCTGTCTGACTCCTCACA	0.711000													14	12					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54557623	54557623	+	Silent	SNP	T	T	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr15:54557623T>A	uc021smr.1	+	7	3741	c.3741T>A	c.(3739-3741)gtT>gtA	p.V1247V	UNC13C_uc021sms.1_Silent_p.V1249V|UNC13C_uc002acl.3_Silent_p.V79V	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1249	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAGTTCAAGTTGGAAAGAACA	0.318000													44	71					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8378412	8378412	+	Splice_Site	SNP	G	G	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr18:8378412G>T	uc002knn.4	+	25	4076	c.3573_splice	c.e25+1	p.R1191_splice	PTPRM_uc010dkv.3_Splice_Site_p.R1204_splice|PTPRM_uc010wzl.2_Splice_Site_p.R978_splice	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	1191	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGGAATTCCGGGTAAGTGATG	0.493000													44	70					5.18031e-10	5.36369e-10	1	1	0
KIAA1755	85449	broad.mit.edu	37	20	36841970	36841970	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr20:36841970C>T	uc002xhy.1	-	13	3349	c.3077G>A	c.(3076-3078)cGg>cAg	p.R1026Q	KIAA1755_uc002xhv.1_Missense_Mutation_p.R90Q|KIAA1755_uc002xhw.1_Missense_Mutation_p.R81Q|KIAA1755_uc002xhx.1_Missense_Mutation_p.R304Q	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	1026										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CAGGCCTGCCCGGCTCAGGGA	0.677000													20	24					0	0	1	0	0
LOC100132247	100132247	broad.mit.edu	37	16	22545906	22545906	+	Silent	SNP	C	C	T	rs144380467	by1000genomes	TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr16:22545906C>T	uc010bxg.3	+	8	1784	c.1602C>T	c.(1600-1602)gcC>gcT	p.A534A	LOC100132247_uc010vbv.2_Silent_p.A534A|LOC100132247_uc021tew.1_Silent_p.A534A|LOC100132247_uc010bxi.3_Silent_p.A515A|LOC100132247_uc010bxk.3_Silent_p.A351A|DQ576951_uc021tey.1_5'Flank|DQ576951_uc010vbx.1_5'Flank	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		AGACACCTGCCGAGCGTCTGC	0.592000													9	24					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186082053	186082053	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr1:186082053A>G	uc001grq.1	+	71	11328	c.11099A>G	c.(11098-11100)aAg>aGg	p.K3700R	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3700	Ig-like C2-type 35.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTGCAGGAAAGACTACAAGA	0.393000													18	31					0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137813760	137813760	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr3:137813760A>T	uc003erq.3	-	3	1015	c.652T>A	c.(652-654)Tgg>Agg	p.W218R	DZIP1L_uc003err.1_Missense_Mutation_p.W218R	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	218						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CCTTGGGTCCACTTTAGCTTG	0.567000													43	82					0	0	1	0	0
CABLES2	81928	broad.mit.edu	37	20	60967982	60967982	+	Silent	SNP	C	C	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr20:60967982C>G	uc002ycv.2	-	6	985	c.978G>C	c.(976-978)tcG>tcC	p.S326S		NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	Homo sapiens Cdk5 and Abl enzyme substrate 2 (CABLES2), mRNA.	326					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TCACCATGTACGACGCAAAGA	0.657000													42	80					0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	66997181	66997181	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr16:66997181T>G	uc002eqt.3	+	1	261	c.182T>G	c.(181-183)cTg>cGg	p.L61R	CES3_uc010cdz.3_Missense_Mutation_p.L61R	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	61						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AATGTCTTTCTGGGCATTCCA	0.662000													4	57					0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25811999	25811999	+	Splice_Site	SNP	C	C	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr6:25811999C>T	uc003nfh.4	-	9	1014	c.898_splice	c.e9-1	p.N300_splice	SLC17A1_uc011djy.2_Splice_Site|SLC17A1_uc010jqb.1_Splice_Site_p.N300_splice|SLC17A1_uc010jqc.1_Splice_Site_p.N244_splice	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	300					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AGAACCCATTCTGAAGAGGAA	0.403000													20	35					0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9971714	9971714	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr3:9971714T>C	uc003bua.3	+	13	1590	c.1372T>C	c.(1372-1374)Tcc>Ccc	p.S458P	CIDEC_uc003bto.3_Intron|IL17RC_uc010hcs.3_Missense_Mutation_p.S362P|IL17RC_uc003btz.3_Missense_Mutation_p.S387P|IL17RC_uc011atp.2_Missense_Mutation_p.S226P|IL17RC_uc003bud.3_Intron|IL17RC_uc010hct.3_Missense_Mutation_p.S387P|IL17RC_uc010hcu.3_Missense_Mutation_p.S370P|IL17RC_uc003bub.3_Missense_Mutation_p.S372P|IL17RC_uc010hcv.3_Missense_Mutation_p.S355P|IL17RC_uc003buc.3_5'UTR|IL17RC_uc011atq.2_Missense_Mutation_p.S372P|IL17RC_uc003bue.3_Missense_Mutation_p.S23P	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	458						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCTTCCAGACTCCCTGGGGCC	0.597000													39	59					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152320162	152320162	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr2:152320162A>T	uc002txm.3	+	29	4289	c.4128A>T	c.(4126-4128)aaA>aaT	p.K1376N	RIF1_uc002txn.3_Missense_Mutation_p.K1376N|RIF1_uc002txl.3_Missense_Mutation_p.K1376N|RIF1_uc002txo.3_Missense_Mutation_p.K1376N|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	1376					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TAGAGGAGAAAAATGTAGAAA	0.348000													8	11					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141301159	141301159	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr8:141301159C>G	uc003yvh.2	-	11	2096	c.2081G>C	c.(2080-2082)gGa>gCa	p.G694A	TRAPPC9_uc003yvj.2_Missense_Mutation_p.G596A|TRAPPC9_uc010mel.1_Missense_Mutation_p.G17A|TRAPPC9_uc003yvi.1_Missense_Mutation_p.G587A	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	596					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ACACACATCTCCTTGAACCCA	0.368000													62	77					0	0	1	0	0
AK093525	0	broad.mit.edu	37	2	15841434	15841434	+	RNA	SNP	A	A	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr2:15841434A>G	uc002rcf.1	+	3		c.469A>G								Homo sapiens cDNA FLJ36206 fis, clone TESTI2028662.																		tgtacttgaaaggagacttca	0.483000													47	48					0	0	1	0	0
GCLC	2729	broad.mit.edu	37	6	53370243	53370243	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr6:53370243G>C	uc003pbw.2	-	11	1826	c.1342C>G	c.(1342-1344)Ctc>Gtc	p.L448V	GCLC_uc003pbv.1_Missense_Mutation_p.L172V|GCLC_uc021zau.1_Missense_Mutation_p.L410V	NM_001498	NP_001489	P48506	GSH1_HUMAN	Homo sapiens glutamate-cysteine ligase, catalytic subunit (GCLC), transcript variant 1, mRNA.	448					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	ACTCTGGTGAGCAGTACCACA	0.403000													47	77					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20077782	20077782	+	Splice_Site	SNP	G	G	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr22:20077782G>C	uc002zri.3	+	5	1735	c.1306_splice	c.e5+1	p.D436_splice	DGCR8_uc010grz.3_Splice_Site_p.D436_splice|DGCR8_uc002zrj.3_Splice_Site_p.D79_splice	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	436	Necessary for heme-binding and pri-miRNA processing.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GAATCCGTTGGTGAGTTTTTG	0.532000													19	23					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46931730	46931730	+	Silent	SNP	G	G	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr22:46931730G>A	uc003bhw.1	-	0	1338	c.1338C>T	c.(1336-1338)taC>taT	p.Y446Y		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	446	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCACCTCGATGTACACGGTGG	0.672000													8	14					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427723	47427723	+	Silent	SNP	C	C	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr4:47427723C>G	uc003gxh.3	+	8	1487	c.1113C>G	c.(1111-1113)acC>acG	p.T371T	GABRB1_uc011bze.2_Silent_p.T301T	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	371					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCCTCAGCACCCTGGAAATCC	0.547000													42	57					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53269420	53269420	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr19:53269420T>A	uc002qab.4	-	2	1875	c.1589A>T	c.(1588-1590)gAg>gTg	p.E530V	ZNF600_uc021uyz.1_Missense_Mutation_p.E530V	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		CTTGCTGCACTCATTACACTT	0.458000													31	62					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64974605	64974605	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr10:64974605T>G	uc001jmn.3	-	7	1622	c.1322A>C	c.(1321-1323)aAa>aCa	p.K441T	JMJD1C_uc001jml.3_Missense_Mutation_p.K222T|JMJD1C_uc001jmm.3_Missense_Mutation_p.K153T|JMJD1C_uc010qiq.2_Missense_Mutation_p.K259T|JMJD1C_uc009xpi.3_Missense_Mutation_p.K259T|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Missense_Mutation_p.K153T	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	441					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTCATGTTTTTTATCTTCCTG	0.388000													10	26					0	0	1	0	0
ODF2	4957	broad.mit.edu	37	9	131256869	131256869	+	Silent	SNP	T	T	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr9:131256869T>C	uc004bvc.3	+	16	2111	c.2025T>C	c.(2023-2025)gcT>gcC	p.A675A	ODF2_uc011maz.2_Silent_p.A611A|ODF2_uc011mbc.2_Silent_p.A530A|ODF2_uc022boj.1_Silent_p.A607A|ODF2_uc004bva.3_Silent_p.A655A|ODF2_uc004bvb.3_Silent_p.A587A|ODF2_uc011mbd.2_Silent_p.A611A|ODF2_uc011mbe.2_Silent_p.A606A|ODF2_uc011mbf.2_Silent_p.A592A|ODF2_uc004bvd.4_Silent_p.A611A|ODF2_uc004bve.3_Silent_p.A592A|ODF2_uc004bvh.3_5'Flank	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	611					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CGAAGCTGGCTGAGTGCCAAG	0.572000													73	107					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596191	179596191	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr2:179596191C>T	uc021vsy.1	-	55	13795	c.13570G>A	c.(13570-13572)Gat>Aat	p.D4524N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1185N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5451	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E4523K(1)		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)			GTGATTTCATCGCTGTCTTTT	0.483000													3	94					0	0	1	0	0
FAM124B	79843	broad.mit.edu	37	2	225244614	225244614	+	Silent	SNP	G	G	A	rs150364918	by1000genomes	TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr2:225244614G>A	uc002vnx.3	-	1	1270	c.1044C>T	c.(1042-1044)ctC>ctT	p.L348L	FAM124B_uc002vnw.3_3'UTR	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA.	348							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)		TTTCCCGGTTGAGGACCTTCA	0.537000													4	75					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20026023	20026023	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr20:20026023A>T	uc002wrs.3	-	6	1245	c.1213T>A	c.(1213-1215)Ttc>Atc	p.F405I		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	405					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TCTCCAAAGAATTCCACAGCT	0.398000													40	73					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121475939	121475939	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr11:121475939T>G	uc001pxx.3	+	33	4898	c.4769T>G	c.(4768-4770)gTc>gGc	p.V1590G	SORL1_uc010rzp.1_Missense_Mutation_p.V436G|SORL1_uc010rzq.1_Missense_Mutation_p.V205G	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1590	Fibronectin type-III 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTATATAATGTCTACTACAGG	0.443000													25	38					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17150900	17150900	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr11:17150900T>G	uc001mmq.4	-	11	2411	c.2346A>C	c.(2344-2346)agA>agC	p.R782S	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Missense_Mutation_p.R402S|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	782					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CTGGTCCCTTTCTCTGCTTAT	0.388000													37	71					0	0	1	0	0
LDB1	8861	broad.mit.edu	37	10	103871028	103871028	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr10:103871028A>G	uc009xwz.3	-	2	501	c.158T>C	c.(157-159)cTg>cCg	p.L53P	LDB1_uc001kuk.4_Missense_Mutation_p.L17P|LDB1_uc001kul.3_Missense_Mutation_p.L17P	NM_001113407	NP_003884	Q86U70	LDB1_HUMAN	Homo sapiens LIM domain binding 1 (LDB1), transcript variant 1, mRNA.	53					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		CCCTGGCTCCAGGTATGTAGG	0.577000													48	65					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62460750	62460750	+	Silent	SNP	C	C	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr8:62460750C>T	uc003xuj.3	-	20	1913	c.1644G>A	c.(1642-1644)gaG>gaA	p.E548E	ASPH_uc011leg.2_Silent_p.E519E	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	548					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	p.E548E(2)|p.E548V(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGTGCCCAAGCTCATACCACT	0.403000													45	63					0	0	1	0	0
FUT6	2528	broad.mit.edu	37	19	5832530	5832530	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr19:5832530G>T	uc002mdf.1	-	3	575	c.49C>A	c.(49-51)Ctg>Atg	p.L17M	FUT6_uc021unl.1_Missense_Mutation_p.L17M|FUT6_uc002mdg.1_Missense_Mutation_p.L17M|FUT6_uc002mdh.1_Missense_Mutation_p.L17M|FUT6_uc021unm.1_Missense_Mutation_p.L17M	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA.	17					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						AGCGTGGTCAGACAGCAGCGC	0.572000													46	61					1.27862e-28	1.37246e-28	1	1	0
SSTR1	6751	broad.mit.edu	37	14	38678806	38678806	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr14:38678806T>C	uc021rsi.1	+	0	212	c.212T>C	c.(211-213)gTg>gCg	p.V71A	SSTR1_uc001wul.1_Missense_Mutation_p.V71A	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	71					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	p.V71V(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GTGTGCCTGGTGGGGCTGTGT	0.562000													42	72					0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31072415	31072415	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr16:31072415C>G	uc021tgt.1	-	3	2259	c.1903G>C	c.(1903-1905)Gga>Cga	p.G635R	ZNF668_uc010cag.2_Missense_Mutation_p.G612R|ZNF668_uc010caf.3_Missense_Mutation_p.G612R|ZNF668_uc002eao.3_Missense_Mutation_p.G612R	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TCAGGCATTCCTAGCAAAGCC	0.657000													24	44					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219878079	219878079	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr2:219878079C>T	uc002vjl.1	-	23	3943	c.3859G>A	c.(3859-3861)Ggt>Agt	p.G1287S		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1287						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTGTCACACCTATGAAATTT	0.542000													62	82					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133789844	133789844	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr11:133789844G>A	uc001qgx.4	-	17	4007	c.3776C>T	c.(3775-3777)tCc>tTc	p.S1259F		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	1259	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTGCTCTGGGAGGGGGAGCC	0.687000													15	20					0	0	1	0	0
PPP1CC	5501	broad.mit.edu	37	12	111168372	111168372	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr12:111168372C>T	uc001tru.3	-	2	651	c.380G>A	c.(379-381)tGt>tAt	p.C127Y	PPP1CC_uc021rdx.1_Missense_Mutation_p.C127Y	NM_002710	NP_002701	P36873	PP1G_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, gamma isozyme (PPP1CC), transcript variant 1, mRNA.	127					cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|nuclear speck|nucleolus	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|large_intestine(2)|lung(3)	6						GATGCTGGCACATTCATGGTT	0.338000													6	9					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15519770	15519770	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr2:15519770G>T	uc002rcc.1	-	29	3572	c.3546C>A	c.(3544-3546)ttC>ttA	p.F1182L	NBAS_uc010exl.1_Missense_Mutation_p.F254L|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1182										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TAGAAGAATTGAAGTACTCTC	0.443000													47	61					8.72158e-25	9.27659e-25	1	1	0
ADAM12	8038	broad.mit.edu	37	10	127806755	127806755	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr10:127806755T>G	uc001ljk.2	-	5	877	c.464A>C	c.(463-465)gAa>gCa	p.E155A	ADAM12_uc010qul.1_Missense_Mutation_p.E152A|ADAM12_uc001ljm.3_Missense_Mutation_p.E155A|ADAM12_uc001ljn.3_Missense_Mutation_p.E152A|ADAM12_uc001ljl.4_Missense_Mutation_p.E152A	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	155					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.E155Q(1)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TTTCATTGGTTCTAAGACATA	0.383000													29	51					0	0	1	0	0
ERGIC2	51290	broad.mit.edu	37	12	29502995	29502995	+	Silent	SNP	A	A	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr12:29502995A>T	uc001riv.3	-	8	712	c.579T>A	c.(577-579)atT>atA	p.I193I	ERGIC2_uc001riw.3_Non-coding_Transcript	NM_016570	NP_057654	Q96RQ1	ERGI2_HUMAN	Homo sapiens ERGIC and golgi 2 (ERGIC2), mRNA.	193					vesicle-mediated transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	GAGGATGTGGAATTGCCCTGA	0.303000													52	88					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81193369	81193369	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr16:81193369C>G	uc002fgh.1	-	22	3754	c.3754G>C	c.(3754-3756)Gtc>Ctc	p.V1252L	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1252					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAATAGTAGACCCCTTCTCCA	0.587000													43	59					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	26211991	26211991	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr8:26211991T>C	uc003xeu.3	+	3	517	c.188T>C	c.(187-189)aTc>aCc	p.I63T	DOCK5_uc003xek.3_Intron|DOCK5_uc011laf.2_Missense_Mutation_p.I73T	NM_002717	NP_002708	Q9H7D0	DOCK5_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, alpha (PPP2R2A), transcript variant 1, mRNA.	0	SH3.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TAGAACAAAATCCAGTCTCAT	0.318000													9	18					0	0	1	0	0
IL28B	282617	broad.mit.edu	37	19	39735444	39735444	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr19:39735444C>T	uc010xut.2	-	0	166	c.164G>A	c.(163-165)aGg>aAg	p.R55K	IL28B_uc010xuu.2_Missense_Mutation_p.R55K	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Homo sapiens interleukin 28B (interferon, lambda 3) (IL28B), mRNA.	55					response to virus	extracellular space	cytokine activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			ATCTTTGGCCCTCTTAAAGGC	0.622000													85	187					0	0	1	0	0
LRRC14	9684	broad.mit.edu	37	8	145745730	145745730	+	Silent	SNP	A	A	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr8:145745730A>G	uc003zdk.2	+	2	612	c.438A>G	c.(436-438)acA>acG	p.T146T	RECQL4_uc003zdj.3_5'Flank|LRRC14_uc003zdl.2_Silent_p.T146T	NM_014665	NP_055480	Q15048	LRC14_HUMAN	Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA.	146										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TAGCTCGCACATGCATTGCCC	0.662000													4	17					0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219611762	219611762	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr2:219611762A>C	uc002viy.3	+	8	2381	c.2011A>C	c.(2011-2013)Aag>Cag	p.K671Q	TTLL4_uc010zkl.1_Missense_Mutation_p.K506Q|TTLL4_uc010fvx.3_Intron|TTLL4_uc010zkm.1_5'UTR	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	671	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GATTGGGAGGAAGGACCGGCT	0.537000													53	93					0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90179946	90179946	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr1:90179946A>C	uc001dnl.4	+	2	2059	c.1817A>C	c.(1816-1818)cAt>cCt	p.H606P		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	606						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CGTATTCCTCATGCTGTGTTC	0.448000													29	66					0	0	1	0	0
TGIF1	7050	broad.mit.edu	37	18	3452341	3452341	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr18:3452341G>C	uc002klz.3	+	0	751	c.364G>C	c.(364-366)Ggt>Cgt	p.G122R	TGIF1_uc002klu.3_Intron|TGIF1_uc002klv.3_Intron|TGIF1_uc002klx.3_Intron|TGIF1_uc002klw.3_Intron|TGIF1_uc010dkm.1_Intron|TGIF1_uc002kly.3_Intron|TGIF1_uc002kma.3_Intron|TGIF1_uc002kmb.3_5'Flank	NM_170695	NP_777480	Q15583	TGIF1_HUMAN	Homo sapiens TGFB-induced factor homeobox 1 (TGIF1), transcript variant 1, mRNA.	122					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GGGCGCACAGGGTCCAGCTCC	0.687000													34	34					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47460314	47460314	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr3:47460314C>A	uc003crh.1	-	13	2215	c.1960G>T	c.(1960-1962)Gtc>Ttc	p.V654F	SCAP_uc011baz.1_Missense_Mutation_p.V399F|SCAP_uc003crg.2_Missense_Mutation_p.V262F	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	654					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		ACTGGGATGACGGGCAGCAGG	0.706000													4	13					0.00024832	0.00024832	1	1	0
CCNI2	645121	broad.mit.edu	37	5	132088594	132088594	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr5:132088594G>A	uc011cxg.1	+	5	1141	c.1090G>A	c.(1090-1092)Gta>Ata	p.V364I	CCNI2_uc011cxh.1_Missense_Mutation_p.V349I|CCNI2_uc003kxq.1_Missense_Mutation_p.V348I|SEPT8_uc003kxr.2_Intron	NM_001039780	NP_001034869	Q6ZMN8	CCNI2_HUMAN	Homo sapiens cyclin I family, member 2 (CCNI2), mRNA.	348					regulation of cyclin-dependent protein kinase activity		protein kinase binding			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAAGGAACTTGTAATGCAGCA	0.478000													29	49					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	93073196	93073196	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr1:93073196T>A	uc010otf.2	-	15	1911	c.1901A>T	c.(1900-1902)aAa>aTa	p.K634I	EVI5_uc001dox.3_Missense_Mutation_p.K623I|EVI5_uc001doy.1_Non-coding_Transcript	NM_005665	NP_005656	O60447	EVI5_HUMAN	Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.	623	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AAGGAGTCCTTTGTTCTGTGC	0.358000													31	26					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2428360	2428360	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr11:2428360C>T	uc010qxl.2	-	19	3116	c.3107G>A	c.(3106-3108)cGg>cAg	p.R1036Q	TRPM5_uc001lwm.4_Missense_Mutation_p.R1036Q|TRPM5_uc009ydn.3_Missense_Mutation_p.R1038Q	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	1036						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAGGTGCTCCCGCTTGTGCTC	0.706000													11	7					0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75431106	75431106	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr11:75431106C>A	uc010rru.2	+	1	161	c.161C>A	c.(160-162)gCg>gAg	p.A54E	MOGAT2_uc001oww.1_Missense_Mutation_p.A54E|MOGAT2_uc010rrv.2_5'UTR	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	54					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	p.A54A(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GTCCTGTATGCGGCCTGGTGG	0.567000													41	60					3.76604e-16	3.96961e-16	1	1	0
C6orf162	57150	broad.mit.edu	37	6	88046811	88046811	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr6:88046811A>C	uc003plp.1	+	2	151	c.62A>C	c.(61-63)cAa>cCa	p.Q21P	C6orf162_uc021zck.1_Non-coding_Transcript|C6orf162_uc003plq.1_Missense_Mutation_p.Q21P	NM_001042493	NP_065158	Q96KF7	CF162_HUMAN	Homo sapiens chromosome 6 open reading frame 162 (C6orf162), transcript variant 1, mRNA.	21						integral to membrane				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;3.81e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.3e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0164)		AAAGAGTTTCAAAGCCCAGGG	0.398000													21	20					0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4069042	4069042	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr6:4069042A>G	uc003mvx.3	-	6	1821	c.1415T>C	c.(1414-1416)cTt>cCt	p.L472P	FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_Missense_Mutation_p.L409P	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.	472																	TTGTCGGTAAAGTTTCTTTTT	0.403000													26	47					0	0	1	0	0
SNX1	6642	broad.mit.edu	37	15	64424017	64424017	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr15:64424017G>C	uc002amv.3	+	10	1277	c.1147G>C	c.(1147-1149)Gaa>Caa	p.E383Q	SNX1_uc010bgv.3_Missense_Mutation_p.E97Q|SNX1_uc010uio.2_Missense_Mutation_p.E383Q|SNX1_uc002amx.3_Missense_Mutation_p.E318Q|SNX1_uc010bgw.3_Missense_Mutation_p.E285Q	NM_003099	NP_003090	Q13596	SNX1_HUMAN	Homo sapiens sorting nexin 1 (SNX1), transcript variant 1, mRNA.	383	BAR.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	Golgi apparatus|early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GCTCCACCAGGAACAGGCCAA	0.537000													56	83					0	0	1	0	0
CST1	1469	broad.mit.edu	37	20	23728528	23728528	+	Silent	SNP	C	C	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr20:23728528C>T	uc002wtp.3	-	2	422	c.351G>A	c.(349-351)ttG>ttA	p.L117L		NM_001898	NP_001889	P01037	CYTN_HUMAN	Homo sapiens cystatin SN (CST1), mRNA.	117						extracellular region	cysteine-type endopeptidase inhibitor activity	p.L117L(2)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CGAAAGAGCACAACTGTTTCT	0.527000													5	75					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120021685	120021685	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr5:120021685C>A	uc003ksq.3	+	1	359	c.196C>A	c.(196-198)Cag>Aag	p.Q66K	PRR16_uc003ksp.3_Missense_Mutation_p.Q43K|PRR16_uc003ksr.3_5'UTR	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	66										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CTCTGACCTACAGCTGGAGGA	0.463000													27	43					1.26612e-14	1.32264e-14	1	1	0
EDEM3	80267	broad.mit.edu	37	1	184723718	184723718	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr1:184723718delT	uc010pom.2	-	0	324	c.63delA	c.(61-63)ctafs	p.L21fs	EDEM3_uc010pok.2_Frame_Shift_Del_p.L21fs|EDEM3_uc010pol.2_Non-coding_Transcript|EDEM3_uc001gqy.3_5'UTR	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	21					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCGCCGCCACTAGTCTCCATC	0.716													13	41	---	---	---	---					
IL5RA	3568	broad.mit.edu	37	3	3139630	3139630	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr3:3139630delA	uc011ask.2	-	7	1277	c.633delT	c.(631-633)cttfs	p.L211fs	IL5RA_uc010hbq.3_Frame_Shift_Del_p.L211fs|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Frame_Shift_Del_p.L211fs|IL5RA_uc011asl.2_Frame_Shift_Del_p.L211fs|IL5RA_uc011asm.1_Frame_Shift_Del_p.L211fs|IL5RA_uc010hbt.2_Frame_Shift_Del_p.L211fs|IL5RA_uc011asn.1_Frame_Shift_Del_p.L211fs|IL5RA_uc010hbu.2_Frame_Shift_Del_p.L211fs	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	211					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CAAGCACCGCAAGCCAGTCAC	0.507													86	133	---	---	---	---					
EOMES	8320	broad.mit.edu	37	3	27760357	27760358	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr3:27760357_27760358insT	uc003cdy.3	-	3	1185_1186	c.1185_1186insA	c.(1183-1188)aaatacfs	p.K395fs	EOMES_uc003cdx.3_Frame_Shift_Ins_p.K395fs|EOMES_uc010hfn.2_Frame_Shift_Ins_p.K395fs|EOMES_uc011axc.1_Frame_Shift_Ins_p.K100fs	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	395					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						CGGGGTTGGTATTTGTGTAAGG	0.381													11	24	---	---	---	---					
ARL13B	200894	broad.mit.edu	37	3	93761993	93761993	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr3:93761993delT	uc003drc.3	+	6	1218	c.933delT	c.(931-933)aatfs	p.N311fs	ARL13B_uc010hop.3_Frame_Shift_Del_p.N162fs|ARL13B_uc003drf.3_Frame_Shift_Del_p.N311fs|ARL13B_uc003drg.3_Frame_Shift_Del_p.N208fs|ARL13B_uc003drd.3_Frame_Shift_Del_p.N204fs|ARL13B_uc003dre.3_Frame_Shift_Del_p.N296fs	NM_182896	NP_001167622	Q3SXY8	AR13B_HUMAN	Homo sapiens ADP-ribosylation factor-like 13B (ARL13B), transcript variant 1, mRNA.	311							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						GCCAAAAAAATAATGAATTTG	0.373													58	106	---	---	---	---					
MTRR	4552	broad.mit.edu	37	5	7895903	7895903	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr5:7895903delC	uc003jed.3	+	11	1725	c.1695delC	c.(1693-1695)atcfs	p.I565fs	MTRR_uc003jee.4_Frame_Shift_Del_p.I538fs|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	565					methionine biosynthetic process	cytosol	FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	ACCCCTCAATCCCCATCATAA	0.403													39	42	---	---	---	---					
GBX1	2636	broad.mit.edu	37	7	150864527	150864529	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr7:150864527_150864529delGCG	uc011kvg.2	-	0	339_341	c.107_109delCGC	c.(106-111)ccgcgc>cgc	p.P36del		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	Homo sapiens gastrulation brain homeobox 1 (GBX1), mRNA.	36	Pro-rich.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCCGGAGCGCGGCGGCGGCGG	0.773													2	4	---	---	---	---					
ADAM9	8754	broad.mit.edu	37	8	38854664	38854670	+	Frame_Shift_Del	DEL	GGTGCGG	GGTGCGG	-			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr8:38854664_38854670delGGTGCGG	uc003xmr.3	+	0	160_166	c.82_88delGGTGCGG	c.(82-90)ggtgcggcgfs	p.G28fs	ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript|TM2D2_uc003xmk.3_5'Flank|TM2D2_uc003xml.3_5'Flank|TM2D2_uc003xmm.3_5'Flank|TM2D2_uc003xmn.3_5'Flank|ADAM9_uc003xmp.3_Frame_Shift_Del_p.G28fs	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	28				Missing (in Ref. 2; no nucleotide entry).	PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CCCAGTCCTCGGTGCGGCGCGGCCAGG	0.715													4	2	---	---	---	---					
FOXD4L3	286380	broad.mit.edu	37	9	70919081	70919082	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr9:70919081_70919082delGG	uc004agm.1	+	0	1299_1300	c.1214_1215delGG	c.(1213-1215)cggfs	p.R405fs		NM_199135	NP_954586	Q6VB84	FX4L3_HUMAN	Homo sapiens forkhead box D4-like 3 (FOXD4L3), mRNA.	405						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		CCAAGGGCGCGGTGCTGGGCGG	0.668													9	8	---	---	---	---					
OR5AR1	219493	broad.mit.edu	37	11	56432020	56432028	+	In_Frame_Del	DEL	CCCTTGATC	CCCTTGATC	-	rs139654321		TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr11:56432020_56432028delCCCTTGATC	uc010rjm.2	+	0	859_867	c.859_867delCCCTTGATC	c.(859-867)cccttgatcdel	p.PLI287del	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CATGTTAAATCCCTTGATCTACAGTTTGC	0.407													27	142	---	---	---	---					
SLX4	84464	broad.mit.edu	37	16	3645657	3645657	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr16:3645657delC	uc002cvp.2	-	8	2589	c.1962delG	c.(1960-1962)gggfs	p.G654fs		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	654	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCACCACAAACCCAGTCAGAG	0.627								Direct reversal of damage					41	64	---	---	---	---					
STAT5B	6777	broad.mit.edu	37	17	40370236	40370236	+	Frame_Shift_Del	DEL	G	G	-	rs144993426		TCGA-HE-A5NH-01A-11D-A26P-10	TCGA-HE-A5NH-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b7e799-ad10-498f-9948-8ce433311539	10fb6a4b-3cb8-484e-abfd-0987cdecb32e	g.chr17:40370236delG	uc002hzh.3	-	8	1271	c.1102delC	c.(1102-1104)cagfs	p.Q368fs	STAT5B_uc002hzi.3_Frame_Shift_Del_p.Q368fs	NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	368					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GCCTTCACCTGGGGGGGGTTC	0.577													9	370	---	---	---	---					
