Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ZNF358	140467	broad.mit.edu	37	19	7585576	7585576	+	Missense_Mutation	SNP	G	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr19:7585576G>C	uc002mgn.2	+	1	1618	c.1448G>C	c.(1447-1449)aGa>aCa	p.R483T	ZNF358_uc021unu.1_Missense_Mutation_p.R483T|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	483					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						cccggctccagatccaccccc	0.672000														24			14		0	0	0.016723	0	0
DHX9	1660	broad.mit.edu	37	1	182856426	182856426	+	Missense_Mutation	SNP	G	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:182856426G>C	uc001gpr.3	+	27	3845	c.3670G>C	c.(3670-3672)Ggt>Cgt	p.G1224R	DHX9_uc001gps.3_Missense_Mutation_p.G1010R|DHX9_uc001gpt.3_Missense_Mutation_p.G503R|DHX9_uc009wyd.3_Missense_Mutation_p.G189R	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	1224	NTD.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGTTTCCCGAGGTGGCTTTAG	0.592000														70			50		0	0	0.014410	0	0
ATP2B3	492	broad.mit.edu	37	X	152826336	152826336	+	Silent	SNP	C	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chrX:152826336C>T	uc004fht.1	+	16	3168	c.3042C>T	c.(3040-3042)ttC>ttT	p.F1014F	ATP2B3_uc004fhs.1_Silent_p.F1014F|ATP2B3_uc010nuf.1_Silent_p.F37F|ATP2B3_uc004fhu.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	1014					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.F1014F(7)|p.F1014L(4)|p.F1000F(2)|p.F1000L(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGCACTTTCGGGATTCAGG	0.572000														45			39		0	0	0.042209	0	0
SLC25A13	10165	broad.mit.edu	37	7	95818645	95818645	+	Silent	SNP	C	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr7:95818645C>T	uc003uog.4	-	8	1085	c.894G>A	c.(892-894)gaG>gaA	p.E298E	SLC25A13_uc003uof.4_Silent_p.E298E|SLC25A13_uc011kik.2_Silent_p.E190E	NM_001160210	NP_001153682	Q9UJS0	CMC2_HUMAN	Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	298					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GCAGAGTTCCCTCTTCCAGAG	0.458000														24			15		0	0	0.012319	0	0
NRAP	4892	broad.mit.edu	37	10	115365938	115365938	+	Splice_Site	SNP	T	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr10:115365938T>A	uc001lal.3	-	33	3971	c.3807_splice	c.e33+1	p.D1269_splice	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Splice_Site_p.D1269_splice|NRAP_uc001lak.3_Splice_Site_p.D1234_splice	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1269						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		AGGGCTTACGTCACTCAGGTT	0.473000														49			19		0	0	0.014323	0	0
AXIN1	8312	broad.mit.edu	37	16	338194	338194	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr16:338194C>A	uc002cgp.2	-	10	2906	c.2517G>T	c.(2515-2517)gaG>gaT	p.E839D	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.E803D	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	839	DIX.				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTCTCGAACCTCCTCAAACA	0.587000														106			41		2.24893e-16	2.90413e-16	0.036044	1	0
PHKB	5257	broad.mit.edu	37	16	47684490	47684490	+	Missense_Mutation	SNP	G	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr16:47684490G>T	uc002eev.4	+	18	1885	c.1833G>T	c.(1831-1833)atG>atT	p.M611I	PHKB_uc002eeu.4_Missense_Mutation_p.M604I	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	611					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	p.M611V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ATTGGAAAATGCATGGACGTC	0.408000														64			31		1.60099e-16	2.08382e-16	0.021022	1	0
FAM86DP	692099	broad.mit.edu	37	3	75475670	75475670	+	Missense_Mutation	SNP	A	C	C	rs7430363	by1000genomes	TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:75475670A>C	uc003dpp.4	-	6	927	c.568T>G	c.(568-570)Tct>Gct	p.S190A	FAM86DP_uc003dps.4_Non-coding_Transcript|FAM86DP_uc003dpq.4_Missense_Mutation_p.S98A|FAM86DP_uc003dpr.4_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA.																		ACCTCAGGAGACTGCTGGTGC	0.627000														75			5		0	0	0.014758	0	0
NPC2	10577	broad.mit.edu	37	14	74959964	74959964	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr14:74959964G>A	uc001xpy.3	-	0	121	c.14C>T	c.(13-15)gCa>gTa	p.A5V	NPC2_uc010tus.2_Missense_Mutation_p.A5V|ISCA2_uc001xpz.2_5'Flank	NM_006432	NP_006423	P61916	NPC2_HUMAN	Homo sapiens Niemann-Pick disease, type C2 (NPC2), mRNA.	5					cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus	extracellular region|lysosome	cholesterol binding|enzyme binding			breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.00149)		GAATGTAGCTGCCAGGAAACG	0.672000														16			4		0	0	0.014758	0	0
LRP6	4040	broad.mit.edu	37	12	12318144	12318144	+	Missense_Mutation	SNP	T	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr12:12318144T>A	uc001rah.4	-	7	1773	c.1631A>T	c.(1630-1632)tAt>tTt	p.Y544F	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.Y544F	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	544	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCAGTAAACATAGTCACCCAA	0.433000														118			67		0	0	0.014410	0	0
PC	5091	broad.mit.edu	37	11	66617172	66617172	+	Missense_Mutation	SNP	G	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr11:66617172G>C	uc001ojn.1	-	18	3106	c.3057C>G	c.(3055-3057)caC>caG	p.H1019Q	PC_uc001ojo.1_Missense_Mutation_p.H1019Q|PC_uc001ojp.1_Missense_Mutation_p.H1019Q	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	1019					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGTCCTTGAAGTGGGCAAACA	0.577000														60			25		0	0	0.018920	0	0
FLRT1	23769	broad.mit.edu	37	11	63885635	63885635	+	Silent	SNP	G	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr11:63885635G>A	uc021qks.1	+	0	1896	c.1896G>A	c.(1894-1896)gaG>gaA	p.E632E	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Silent_p.E632E	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	604					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CCAAAGAAGAGTACGTGGTCC	0.607000														68			43		0	0	0.014410	0	0
SALL4	57167	broad.mit.edu	37	20	50407897	50407897	+	Missense_Mutation	SNP	G	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr20:50407897G>C	uc002xwh.4	-	1	1226	c.1125C>G	c.(1123-1125)gaC>gaG	p.D375E	SALL4_uc010gii.3_Missense_Mutation_p.D375E|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	375					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGGCCGCCTCGTCTTTGGGTT	0.547000														63			36		0	0	0.030466	0	0
HINFP	25988	broad.mit.edu	37	11	119001504	119001504	+	Missense_Mutation	SNP	G	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr11:119001504G>T	uc001pvp.3	+	3	495	c.251G>T	c.(250-252)cGc>cTc	p.R84L	HINFP_uc010rzb.2_Missense_Mutation_p.R84L|HINFP_uc021qrj.1_Missense_Mutation_p.R84L|HINFP_uc001pvq.3_Missense_Mutation_p.R84L|HINFP_uc001pvr.3_5'Flank	NM_015517	NP_945322	Q9BQA5	HINFP_HUMAN	Homo sapiens histone H4 transcription factor (HINFP), transcript variant 1, mRNA.	84					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GACCTCATCCGCCATGTCTAC	0.532000														187			14		8.60227e-14	1.09362e-13	0.028581	1	0
WDR44	54521	broad.mit.edu	37	X	117526750	117526750	+	Missense_Mutation	SNP	T	G	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chrX:117526750T>G	uc004eqn.3	+	3	773	c.342T>G	c.(340-342)gaT>gaG	p.D114E	WDR44_uc004eqo.3_Missense_Mutation_p.D114E|WDR44_uc011mtr.2_Missense_Mutation_p.D89E|WDR44_uc010nqi.3_5'UTR	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA.	114	Binding activity.					Golgi apparatus|cytosol|endosome membrane|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TAGCCATAGATCAAGTACTAC	0.403000														95			69		0	0	0.014410	0	0
NTAN1	123803	broad.mit.edu	37	16	15133833	15133833	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr16:15133833C>G	uc002ddd.3	-	7	637	c.632G>C	c.(631-633)gGa>gCa	p.G211A	PDXDC1_uc002ddc.3_Intron|NTAN1_uc010uzo.2_Missense_Mutation_p.G106A	NM_173474	NP_775745	Q96AB6	NTAN1_HUMAN	Homo sapiens N-terminal asparagine amidase (NTAN1), mRNA.	211						cytoplasm				endometrium(1)|large_intestine(4)|lung(3)	8						CACTGGTCCTCCTGCTAAAGT	0.433000														151			85		0	0	0.014410	0	0
ANO6	196527	broad.mit.edu	37	12	45803213	45803213	+	Missense_Mutation	SNP	G	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr12:45803213G>T	uc010slf.2	+	16	2352	c.2017G>T	c.(2017-2019)Gac>Tac	p.D673Y	ANO6_uc001roo.3_Missense_Mutation_p.D652Y|ANO6_uc010sld.1_Missense_Mutation_p.D652Y|ANO6_uc010sle.1_Missense_Mutation_p.D652Y|ANO6_uc010slg.2_Missense_Mutation_p.D634Y	NM_001204803	NP_001191732	Q4KMQ2	ANO6_HUMAN	Homo sapiens anoctamin 6 (ANO6), transcript variant 5, mRNA.	652					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATGGGAACAGGACTACCATCT	0.353000														94			53		1.63038e-21	2.20977e-21	0.014410	1	0
BAHD1	22893	broad.mit.edu	37	15	40758294	40758294	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr15:40758294T>C	uc001zlu.2	+	6	2379	c.2308T>C	c.(2308-2310)Ttc>Ctc	p.F770L	BAHD1_uc001zlt.2_Missense_Mutation_p.F769L|BAHD1_uc010bbp.1_Missense_Mutation_p.F766L|BAHD1_uc001zlv.2_Missense_Mutation_p.F767L	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	770	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		TGTCTATGACTTCCGCCACGG	0.632000														119			85		0	0	0.014410	0	0
SEMA4D	10507	broad.mit.edu	37	9	92007357	92007357	+	Nonsense_Mutation	SNP	A	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr9:92007357A>T	uc004aqo.1	-	9	1175	c.603T>A	c.(601-603)taT>taA	p.Y201*	SEMA4D_uc011ltm.1_Nonsense_Mutation_p.Y201*|SEMA4D_uc011ltn.1_Non-coding_Transcript|SEMA4D_uc011lto.1_Non-coding_Transcript|SEMA4D_uc004aqp.1_Nonsense_Mutation_p.Y201*	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	201	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						AAGGGATTGCATATTCTGTCC	0.488000														79			31		0	0	0.021022	0	0
DBT	1629	broad.mit.edu	37	1	100680458	100680458	+	Missense_Mutation	SNP	G	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:100680458G>T	uc001dta.3	-	6	887	c.854C>A	c.(853-855)aCt>aAt	p.T285N	DBT_uc010oug.2_Missense_Mutation_p.T104N|DBT_uc021oqo.1_Missense_Mutation_p.T285N	NM_001918	NP_001909	P11182	ODB2_HUMAN	Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA.	285					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AACCAGTTCAGTAAGGTCAAT	0.373000														42			28		1.5548e-18	2.07307e-18	0.027356	1	0
ZNF770	54989	broad.mit.edu	37	15	35274327	35274327	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr15:35274327T>C	uc001ziw.3	-	2	1663	c.1309A>G	c.(1309-1311)Aag>Gag	p.K437E	ZNF770_uc021siy.1_Missense_Mutation_p.K437E	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AAGTCTTTCTTATTCACTGAA	0.348000														82			55		0	0	0.014410	0	0
RP1L1	94137	broad.mit.edu	37	8	10466983	10466983	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr8:10466983C>A	uc003wtc.3	-	3	4854	c.4625G>T	c.(4624-4626)cGa>cTa	p.R1542L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1542					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCAGCGTGCTCGGAGCTCAGC	0.647000														42			15		2.31682e-05	2.71399e-05	0.024245	1	0
KIAA1109	84162	broad.mit.edu	37	4	123202841	123202841	+	Missense_Mutation	SNP	G	C	C	rs115036597	by1000genomes	TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr4:123202841G>C	uc003ieh.3	+	49	8994	c.8949G>C	c.(8947-8949)atG>atC	p.M2983I	KIAA1109_uc003iel.1_Missense_Mutation_p.M918I	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2983					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCAGTGCCATGTTAGATGGTA	0.383000														92			53		0	0	0.014410	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56779418	56779418	+	Missense_Mutation	SNP	T	G	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:56779418T>G	uc003dih.2	-	9	891	c.781A>C	c.(781-783)Aag>Cag	p.K261Q	ARHGEF3_uc011bew.1_Missense_Mutation_p.K229Q|ARHGEF3_uc011bev.1_Missense_Mutation_p.K200Q|ARHGEF3_uc003dif.2_Missense_Mutation_p.K235Q|ARHGEF3_uc003dig.2_Missense_Mutation_p.K229Q|ARHGEF3_uc010hmy.1_Missense_Mutation_p.K27Q|ARHGEF3_uc003dii.2_Missense_Mutation_p.K229Q	NM_001128615	NP_001122087	Q9NR81	ARHG3_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), transcript variant 1, mRNA.	229	DH.				Rho protein signal transduction|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TGATCTTGCTTTTTGTGGTCC	0.478000														127			70		0	0	0.014410	0	0
HSPA2	3306	broad.mit.edu	37	14	65008173	65008173	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr14:65008173C>A	uc001xhj.3	+	1	682	c.606C>A	c.(604-606)gaC>gaA	p.D202E	HSPA2_uc001xhk.4_Missense_Mutation_p.D202E	NM_021979	NP_068814	P54652	HSP72_HUMAN	Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.	202					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		TCATCTTTGACCTGGGCGGTG	0.642000														111			43		4.25531e-23	5.8156e-23	0.014410	1	0
NLRP4	147945	broad.mit.edu	37	19	56370219	56370219	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr19:56370219A>G	uc002qmd.4	+	2	1882	c.1460A>G	c.(1459-1461)aAt>aGt	p.N487S	NLRP4_uc002qmf.3_Missense_Mutation_p.N412S|NLRP4_uc010etf.3_Missense_Mutation_p.N318S	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	487							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTAGTTGCCAATTTTGAAAAA	0.418000														93			70		0	0	0.014410	0	0
STRN	6801	broad.mit.edu	37	2	37129786	37129786	+	Missense_Mutation	SNP	T	G	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr2:37129786T>G	uc002rpn.3	-	4	609	c.600A>C	c.(598-600)aaA>aaC	p.K200N	STRN_uc010ezx.3_Missense_Mutation_p.K200N	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	200					Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				AGTCCTGATTTTTGTCATCTT	0.393000														106			74		0	0	0.014410	0	0
SEMA3A	10371	broad.mit.edu	37	7	83631283	83631283	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr7:83631283C>A	uc003uhz.3	-	11	1755	c.1440G>T	c.(1438-1440)atG>atT	p.M480I		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	480	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GAAAAACTGTCATTTCTTCCA	0.428000														43			19		7.45023e-12	9.327e-12	0.010504	1	0
MICALL1	85377	broad.mit.edu	37	22	38328888	38328888	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr22:38328888A>G	uc003aui.3	+	11	2502	c.2227A>G	c.(2227-2229)Atc>Gtc	p.I743V		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	743						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GTCCGAGCTCATCTATGTGTG	0.582000														37			29		0	0	0.034045	0	0
CUBN	8029	broad.mit.edu	37	10	16941136	16941136	+	Silent	SNP	A	G	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr10:16941136A>G	uc001ioo.3	-	53	8509	c.8457T>C	c.(8455-8457)ccT>ccC	p.P2819P	CUBN_uc009xjq.1_Non-coding_Transcript|CUBN_uc009xjr.1_Silent_p.P175P	NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2819	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)	GAGGCCAGTGAGGGGATCTGA	0.398000														56			33		0	0	0.030466	0	0
PRRC2C	23215	broad.mit.edu	37	1	171527271	171527271	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:171527271T>C	uc010pmg.2	+	18	6280	c.6014T>C	c.(6013-6015)aTc>aCc	p.I2005T	PRRC2C_uc010pmh.2_Missense_Mutation_p.I982T|PRRC2C_uc010pmi.2_5'UTR	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	2005							protein C-terminus binding										CTGAATGATATCTCTAAGAAA	0.423000														48			27		0	0	0.037714	0	0
USO1	8615	broad.mit.edu	37	4	76721515	76721515	+	Missense_Mutation	SNP	A	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr4:76721515A>T	uc003hiu.3	+	13	1597	c.1422A>T	c.(1420-1422)caA>caT	p.Q474H	USO1_uc003hiv.3_Missense_Mutation_p.Q367H|USO1_uc003hiw.3_Missense_Mutation_p.Q360H	NM_003715	NP_003706	O60763	USO1_HUMAN	Homo sapiens USO1 vesicle docking protein homolog (yeast) (USO1), mRNA.	525	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	Golgi membrane|cytosol	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTACAGGACAAATTGCAGAAA	0.348000														7			5		0	0	0.014758	0	0
GLYR1	84656	broad.mit.edu	37	16	4864623	4864623	+	Missense_Mutation	SNP	G	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr16:4864623G>C	uc002cxx.4	-	10	969	c.932C>G	c.(931-933)gCc>gGc	p.A311G	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Missense_Mutation_p.A225G|GLYR1_uc002cya.2_Missense_Mutation_p.A305G|GLYR1_uc010uxv.1_Missense_Mutation_p.A230G	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	311					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCCCAGACGGGCCCCCTCCTG	0.577000														39			17		0	0	0.028581	0	0
BACH2	60468	broad.mit.edu	37	6	90660214	90660214	+	Silent	SNP	G	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr6:90660214G>A	uc011eab.2	-	6	2485	c.1611C>T	c.(1609-1611)ccC>ccT	p.P537P	BACH2_uc003pnw.3_Silent_p.P537P|BACH2_uc010kch.3_Silent_p.P537P	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	537						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGAGGCTGCAGGGTGAGCCCC	0.612000														54			35		0	0	0.021022	0	0
ADAM20	8748	broad.mit.edu	37	14	70991146	70991146	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr14:70991146T>C	uc021rvs.1	-	0	479	c.479A>G	c.(478-480)tAc>tGc	p.Y160C	ADAM20_uc001xme.3_Missense_Mutation_p.Y160C	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	110					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ACCATGGTAGTAGCAGTCATC	0.498000														79			61		0	0	0.014410	0	0
ITGAM	3684	broad.mit.edu	37	16	31340556	31340556	+	Missense_Mutation	SNP	G	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr16:31340556G>T	uc002ebr.3	+	23	2901	c.2803G>T	c.(2803-2805)Gtc>Ttc	p.V935F	ITGAM_uc002ebq.3_Missense_Mutation_p.V934F|ITGAM_uc010can.3_Missense_Mutation_p.V340F	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	934					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAGCCATGGGGTCTCCACTAA	0.542000														12			9		7.48243e-07	8.89216e-07	0.006214	1	0
LGALS8	3964	broad.mit.edu	37	1	236702385	236702385	+	Missense_Mutation	SNP	T	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:236702385T>A	uc001hxz.2	+	4	722	c.341T>A	c.(340-342)tTc>tAc	p.F114Y	LGALS8_uc001hxw.2_Missense_Mutation_p.F114Y|LGALS8_uc001hxy.2_Missense_Mutation_p.F114Y|LGALS8_uc009xgg.2_Non-coding_Transcript|LGALS8_uc001hya.2_Missense_Mutation_p.F114Y|LGALS8_uc001hyc.2_Missense_Mutation_p.F114Y	NM_201543	NP_963838	O00214	LEG8_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 8 (LGALS8), transcript variant 2, mRNA.	114	Galectin 1.					cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AAGGACAAATTCCAGGTAGGT	0.443000														44			23		0	0	0.014323	0	0
QRICH2	84074	broad.mit.edu	37	17	74277019	74277019	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr17:74277019C>A	uc002jrd.1	-	8	3961	c.3781G>T	c.(3781-3783)Ggc>Tgc	p.G1261C	QRICH2_uc010dgw.1_Missense_Mutation_p.G105C	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1261							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TGCACACGGCCCAGCAGCTCC	0.617000														26			10		1.08611e-07	1.30972e-07	0.010729	1	0
MTRR	4552	broad.mit.edu	37	5	7878202	7878202	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr5:7878202G>T	uc003jed.3	+	4	658	c.628G>T	c.(628-630)Gag>Tag	p.E210*	MTRR_uc010itn.1_Non-coding_Transcript|MTRR_uc003jee.4_Nonsense_Mutation_p.E183*|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.	210	Hinge.				methionine biosynthetic process	cytosol	FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding	p.E210D(1)		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)	TGTGAAGTCAGAGCTGCTACA	0.478000														38			19		1.45105e-14	1.85916e-14	0.038395	1	0
CAMP	820	broad.mit.edu	37	3	48266893	48266893	+	Silent	SNP	T	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:48266893T>C	uc003csj.2	+	3	657	c.492T>C	c.(490-492)ctT>ctC	p.L164L		NM_004345	NP_004336	P49913	CAMP_HUMAN	Homo sapiens cathelicidin antimicrobial peptide (CAMP), mRNA.	164					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TGCGGAATCTTGTACCCAGGA	0.453000														116			65		0	0	0.014410	0	0
CA13	377677	broad.mit.edu	37	8	86180770	86180770	+	Missense_Mutation	SNP	T	G	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr8:86180770T>G	uc003ydg.2	+	5	925	c.583T>G	c.(583-585)Tat>Gat	p.Y195D	CA13_uc003ydf.1_Non-coding_Transcript	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	Homo sapiens carbonic anhydrase XIII (CA13), mRNA.	195					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						CTACTGGACATATCCTGGTTC	0.398000														87			55		0	0	0.014410	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543429	182543429	+	Silent	SNP	C	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr2:182543429C>A	uc021vto.1	-	0	159	c.159G>T	c.(157-159)ctG>ctT	p.L53L	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Silent_p.L53L|NEUROD1_uc021vtn.1_Silent_p.L53L	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	53					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CCCCGTTCCTCAGTGAGTCCT	0.572000														8			5		0.000602214	0.000695515	0.014758	1	0
CDC16	8881	broad.mit.edu	37	13	115022697	115022697	+	Missense_Mutation	SNP	G	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr13:115022697G>T	uc001vuk.1	+	12	1440	c.1242G>T	c.(1240-1242)caG>caT	p.Q414H	CDC16_uc001vul.1_Missense_Mutation_p.Q414H|CDC16_uc001vum.1_Missense_Mutation_p.Q320H|CDC16_uc001vun.1_Missense_Mutation_p.Q413H|CDC16_uc001vuo.1_Intron	NM_003903	NP_003894	Q13042	CDC16_HUMAN	Homo sapiens cell division cycle 16 homolog (S. cerevisiae) (CDC16), transcript variant 1, mRNA.	414					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	p.Q413E(1)		endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			TTGCATTTCAGAATGGAGAGT	0.438000														86			46		4.64027e-19	6.23773e-19	0.014410	1	0
MYO1C	4641	broad.mit.edu	37	17	1375218	1375218	+	Silent	SNP	G	A	A	rs78672478	byFrequency	TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr17:1375218G>A	uc002fsp.3	-	18	2224	c.2004C>T	c.(2002-2004)taC>taT	p.Y668Y	MYO1C_uc002fsn.3_Silent_p.Y649Y|MYO1C_uc002fso.3_Silent_p.Y633Y|MYO1C_uc010vqj.1_Silent_p.Y633Y|MYO1C_uc010vqk.1_Silent_p.Y644Y	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.	668	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGAAAGCTTCGTATTTGCGGC	0.632000														127			6		0	0	0.029380	0	0
HOXB7	3217	broad.mit.edu	37	17	46688052	46688052	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr17:46688052C>T	uc002inv.3	-	0	332	c.229G>A	c.(229-231)Ggc>Agc	p.G77S		NM_004502	NP_004493	P09629	HXB7_HUMAN	Homo sapiens homeobox B7 (HOXB7), mRNA.	77						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						AGCCCATAGCCGGCCGCGTAG	0.726000														6			6		0	0	0.029380	0	0
TTN	7273	broad.mit.edu	37	2	179599140	179599140	+	Silent	SNP	A	G	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr2:179599140A>G	uc021vsy.1	-	48	11904	c.11679T>C	c.(11677-11679)ttT>ttC	p.F3893F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F554F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4820							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCACTATTAAACGAAAAGA	0.373000														135			71		0	0	0.014410	0	0
CDC20	991	broad.mit.edu	37	1	43828621	43828621	+	Splice_Site	SNP	G	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:43828621G>A	uc001cix.3	+	11	1423	c.1322_splice	c.e11-1	p.G441_splice	CDC20_uc001ciy.3_Splice_Site_p.G441_splice	NM_001255	NP_001246	Q12834	CDC20_HUMAN	Homo sapiens cell division cycle 20 homolog (S. cerevisiae) (CDC20), mRNA.	441					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATTTGCTCCAGGTCACACATC	0.532000														73			51		0	0	0.014410	0	0
MEGF6	1953	broad.mit.edu	37	1	3511980	3511980	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:3511980A>G	uc001akl.3	-	2	525	c.298T>C	c.(298-300)Tat>Cat	p.Y100H		NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	100	EMI.					extracellular region	calcium ion binding	p.V99L(1)		cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TCCGTGGTATACACCTGCCTG	0.632000														57			34		0	0	0.019004	0	0
TCEB3	6924	broad.mit.edu	37	1	24080614	24080614	+	Missense_Mutation	SNP	A	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:24080614A>C	uc001bho.3	+	5	1700	c.1640A>C	c.(1639-1641)gAa>gCa	p.E547A		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	547					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CAGGAAGAAGAAGAAGCTGGA	0.473000														62			38		0	0	0.025465	0	0
SLC22A13	9390	broad.mit.edu	37	3	38316610	38316610	+	Silent	SNP	C	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:38316610C>A	uc003chz.3	+	3	822	c.768C>A	c.(766-768)acC>acA	p.T256T	SLC22A13_uc011aym.1_Non-coding_Transcript|SLC22A13_uc011ayn.1_Silent_p.T256T	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 13 (SLC22A13), mRNA.	256						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TTCAGATCACCGGCACTGCGC	0.597000														161			91		9.72315e-31	1.38661e-30	0.014410	1	0
PRB3	5544	broad.mit.edu	37	12	11420475	11420475	+	Silent	SNP	A	G	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr12:11420475A>G	uc001qzs.3	-	2	746	c.708T>C	c.(706-708)ccT>ccC	p.P236P	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	236	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGGACCTTGAGGTTTGTTGC	0.617000														6			4		0	0	0.009096	0	0
DHX33	56919	broad.mit.edu	37	17	5353590	5353590	+	Missense_Mutation	SNP	G	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr17:5353590G>T	uc002gca.3	-	9	1862	c.1661C>A	c.(1660-1662)tCc>tAc	p.S554Y	DHX33_uc002gbz.3_Missense_Mutation_p.S325Y|DHX33_uc002gcb.3_Missense_Mutation_p.S381Y|DHX33_uc010clf.3_Missense_Mutation_p.S389Y	NM_020162	NP_001186628	Q9H6R0	DHX33_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 33 (DHX33), transcript variant 1, mRNA.	554						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCCCTCGCTGGATATGAACTT	0.542000														158			97		1.29119e-40	1.8575e-40	0.014410	1	0
HSPA2	3306	broad.mit.edu	37	14	65008125	65008125	+	Silent	SNP	G	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr14:65008125G>A	uc001xhj.3	+	1	634	c.558G>A	c.(556-558)ctG>ctA	p.L186L	HSPA2_uc001xhk.4_Silent_p.L186L	NM_021979	NP_068814	P54652	HSP72_HUMAN	Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.	186					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CCTACGGCCTGGACAAGAAGG	0.642000														99			39		0	0	0.033182	0	0
PREP	5550	broad.mit.edu	37	6	105776878	105776878	+	Missense_Mutation	SNP	T	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr6:105776878T>A	uc003prc.3	-	8	1272	c.1039A>T	c.(1039-1041)Aac>Tac	p.N347Y		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	347					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ACCAAGAAGTTGGACCTGACA	0.413000														50			30		0	0	0.045705	0	0
RASGRP3	25780	broad.mit.edu	37	2	33768640	33768640	+	Missense_Mutation	SNP	G	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr2:33768640G>C	uc002rox.3	+	13	1967	c.1340G>C	c.(1339-1341)aGt>aCt	p.S447T	RASGRP3_uc010ync.2_Missense_Mutation_p.S447T|RASGRP3_uc002roy.3_Missense_Mutation_p.S446T	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	447	EF-hand 1.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GACTTTGAAAGTATAGCTGCC	0.338000														16			13		0	0	0.033300	0	0
TNR	7143	broad.mit.edu	37	1	175355248	175355248	+	Missense_Mutation	SNP	G	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:175355248G>C	uc001gkp.1	-	5	1778	c.1697C>G	c.(1696-1698)cCt>cGt	p.P566R	TNR_uc009wwu.1_Missense_Mutation_p.P566R	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	566	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.P566S(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCGGGAGCCAGGCCGCAGGGC	0.612000														60			30		0	0	0.034045	0	0
NRAP	4892	broad.mit.edu	37	10	115365937	115365937	+	Splice_Site	SNP	G	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr10:115365937G>T	uc001lal.3	-	33	3971	c.3807_splice	c.e33+1	p.D1269_splice	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Splice_Site_p.D1269_splice|NRAP_uc001lak.3_Splice_Site_p.D1234_splice	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1269						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		AAGGGCTTACGTCACTCAGGT	0.473000														47			19		1.9806e-07	2.37094e-07	0.014323	1	0
NRXN3	9369	broad.mit.edu	37	14	79423648	79423648	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr14:79423648G>A	uc001xun.3	+	7	1711	c.1220G>A	c.(1219-1221)cGg>cAg	p.R407Q	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.R532Q	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	177					angiogenesis|cell adhesion	integral to membrane		p.R407P(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CACACCGTTCGGGTGGTGCGG	0.473000														94			56		0	0	0.014410	0	0
FLG	2312	broad.mit.edu	37	1	152276023	152276023	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:152276023C>G	uc001ezu.1	-	2	11375	c.11339G>C	c.(11338-11340)aGg>aCg	p.R3780T		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3780	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCCAGACCTATCTACCGA	0.577000									Ichthyosis					408			216		0	0	0.014410	0	0
ZNF599	148103	broad.mit.edu	37	19	35250175	35250175	+	Nonsense_Mutation	SNP	C	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr19:35250175C>A	uc010edn.1	-	3	1919	c.1531G>T	c.(1531-1533)Gaa>Taa	p.E511*	ZNF599_uc010edm.2_Nonsense_Mutation_p.E474*	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	511					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTTCCACATTCTCTACAAACA	0.418000														94			65		2.19297e-23	3.02224e-23	0.014410	1	0
HERC2	8924	broad.mit.edu	37	15	28431846	28431846	+	Missense_Mutation	SNP	T	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr15:28431846T>A	uc001zbj.3	-	55	8808	c.8702A>T	c.(8701-8703)gAt>gTt	p.D2901V		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2901	DOC.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GATTTTACAATCGATTCCTGA	0.423000														34			24		0	0	0.018920	0	0
CLIP2	7461	broad.mit.edu	37	7	73790824	73790824	+	Missense_Mutation	SNP	G	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr7:73790824G>T	uc003uam.3	+	9	2420	c.2093G>T	c.(2092-2094)gGg>gTg	p.G698V	CLIP2_uc003uan.3_Missense_Mutation_p.G663V|CLIP2_uc003uao.3_Missense_Mutation_p.G92V	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	698						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GAGCTGGCTGGGCTGCAGCGG	0.687000														11			8		0.000157383	0.000183056	0.038147	1	0
SAMD15	161394	broad.mit.edu	37	14	77844646	77844646	+	Silent	SNP	G	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr14:77844646G>A	uc001xtq.1	+	0	885	c.885G>A	c.(883-885)aaG>aaA	p.K295K	TMED8_uc001xto.1_5'Flank|SAMD15_uc021rwt.1_Silent_p.K295K	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA.	295										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCAAAGAAAGGCAACTGAGG	0.493000														70			43		0	0	0.039052	0	0
MYO5C	55930	broad.mit.edu	37	15	52498142	52498142	+	Missense_Mutation	SNP	G	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr15:52498142G>T	uc010bff.3	-	36	4570	c.4408C>A	c.(4408-4410)Cca>Aca	p.P1470T	MYO5C_uc010uga.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1470	Dilute.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTCTGCTGTGGACTATTATGC	0.269000														23			16		2.35188e-11	2.92203e-11	0.038395	1	0
MRPS14	63931	broad.mit.edu	37	1	174987712	174987712	+	Splice_Site	SNP	T	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:174987712T>C	uc001gkk.3	-	2	93	c.46_splice	c.e2-1	p.M16_splice	MRPS14_uc009wwr.3_Splice_Site_p.M1_splice	NM_022100	NP_071383	O60783	RT14_HUMAN	Homo sapiens mitochondrial ribosomal protein S14 (MRPS14), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	16					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						GAAGGAACCATCTGAAAGACA	0.448000														45			31		0	0	0.012213	0	0
ATP7B	540	broad.mit.edu	37	13	52548876	52548876	+	Silent	SNP	G	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr13:52548876G>A	uc001vfw.2	-	1	637	c.480C>T	c.(478-480)tcC>tcT	p.S160S	ATP7B_uc001vfy.2_Silent_p.S160S|ATP7B_uc010adv.2_Silent_p.S160S|ATP7B_uc001vfx.2_Silent_p.S160S|ATP7B_uc010tgt.1_Silent_p.S160S|ATP7B_uc010tgu.1_Silent_p.S160S|ATP7B_uc010tgv.1_Silent_p.S160S|ATP7B_uc010tgw.1_Silent_p.S128S	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	160	HMA 2.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TGCCTTCAATGGAGCTGACAC	0.562000									Wilson disease					41			20		0	0	0.008871	0	0
ALS2CR8	79800	broad.mit.edu	37	2	203848266	203848266	+	Silent	SNP	A	G	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr2:203848266A>G	uc002uzo.2	+	15	2377	c.2097A>G	c.(2095-2097)caA>caG	p.Q699Q	ALS2CR8_uc010zia.1_Silent_p.Q623Q|ALS2CR8_uc010zib.1_Silent_p.Q623Q|ALS2CR8_uc010zic.1_Silent_p.Q611Q|ALS2CR8_uc002uzp.2_Silent_p.Q699Q	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	699										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						CTGTGAGCCAAGTTAAACAAG	0.328000														52			26		0	0	0.041601	0	0
FLT4	2324	broad.mit.edu	37	5	180030377	180030377	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr5:180030377C>T	uc003mlz.4	-	29	3986	c.3907G>A	c.(3907-3909)Ggc>Agc	p.G1303S		NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	0					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACATTCTGGCCAGGTCCTTTA	0.617000														20			15		0	0	0.028581	0	0
HELZ	9931	broad.mit.edu	37	17	65134125	65134125	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr17:65134125G>A	uc010wqk.2	-	21	3065	c.2878C>T	c.(2878-2880)Caa>Taa	p.Q960*	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Nonsense_Mutation_p.Q959*	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTAAACACTTGATCAGCATAT	0.403000														113			66		0	0	0.014410	0	0
RNF40	9810	broad.mit.edu	37	16	30775599	30775599	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr16:30775599T>C	uc002dzq.3	+	4	1362	c.542T>C	c.(541-543)cTg>cCg	p.L181P	C16orf93_uc002dzo.3_5'Flank|C16orf93_uc021tgp.1_5'Flank|C16orf93_uc002dzm.3_5'Flank|C16orf93_uc002dzp.3_5'Flank|RNF40_uc010caa.3_Missense_Mutation_p.L181P|RNF40_uc010cab.3_Missense_Mutation_p.L181P|RNF40_uc010vfa.2_Intron|RNF40_uc010vfb.2_Intron|RNF40_uc002dzr.3_Missense_Mutation_p.L181P	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	181					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GAGCTGGAGCTGCAAGGCCGA	0.632000														23			11		0	0	0.008291	0	0
EFR3A	23167	broad.mit.edu	37	8	132982859	132982859	+	Missense_Mutation	SNP	G	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr8:132982859G>T	uc003yte.3	+	9	1332	c.1128G>T	c.(1126-1128)aaG>aaT	p.K376N		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	376						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ATGATGAGAAGATTGTGCAGA	0.378000														102			40		3.86236e-30	5.46058e-30	0.014410	1	0
PSME2	5721	broad.mit.edu	37	14	24612672	24612672	+	Missense_Mutation	SNP	G	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr14:24612672G>T	uc001wmj.3	-	10	731	c.666C>A	c.(664-666)agC>agA	p.S222R	FAM158A_uc001wmi.3_5'Flank	NM_002818	NP_002809	Q9UL46	PSME2_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 2 (PA28 beta) (PSME2), mRNA.	222					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		TCTCCAGGTTGCTGCTGATGA	0.478000														65			33		2.42023e-17	3.20095e-17	0.015359	1	0
SH2B1	25970	broad.mit.edu	37	16	28880661	28880661	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr16:28880661C>A	uc002dri.3	+	6	1705	c.1266C>A	c.(1264-1266)gaC>gaA	p.D422E	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Missense_Mutation_p.D112E|SH2B1_uc002drj.3_Missense_Mutation_p.D422E|SH2B1_uc002drk.3_Missense_Mutation_p.D422E|SH2B1_uc002drl.3_Missense_Mutation_p.D422E|SH2B1_uc010vdd.2_Missense_Mutation_p.D86E|SH2B1_uc010vde.2_Missense_Mutation_p.D422E|SH2B1_uc002drm.3_Missense_Mutation_p.D422E	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	422	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCAGCCAGGACCTGCTGCTTG	0.632000														49			28		4.31634e-10	5.28268e-10	0.012213	1	0
CELSR2	1952	broad.mit.edu	37	1	109807126	109807126	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:109807126C>A	uc001dxa.4	+	10	5401	c.5340C>A	c.(5338-5340)agC>agA	p.S1780R		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1780	Laminin G-like 2.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGGATCCCAGCCATGGGGAGA	0.617000														94			58		1.44317e-28	2.0229e-28	0.014410	1	0
PUM1	9698	broad.mit.edu	37	1	31479871	31479871	+	Missense_Mutation	SNP	G	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:31479871G>C	uc001bsi.1	-	3	624	c.511C>G	c.(511-513)Caa>Gaa	p.Q171E	PUM1_uc001bsh.1_Missense_Mutation_p.Q171E|PUM1_uc001bsj.1_Missense_Mutation_p.Q171E|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Missense_Mutation_p.Q207E|PUM1_uc010ogb.1_Intron	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	171					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TCTCGCCATTGATCACCCAGG	0.418000														185			101		0	0	0.014410	0	0
DROSHA	29102	broad.mit.edu	37	5	31515239	31515239	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr5:31515239C>G	uc003jhg.2	-	6	1505	c.1146G>C	c.(1144-1146)aaG>aaC	p.K382N	DROSHA_uc003jhh.2_Missense_Mutation_p.K345N|DROSHA_uc003jhi.2_Missense_Mutation_p.K345N|DROSHA_uc010iui.1_Missense_Mutation_p.K305N	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	382					RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGGTATAGTTCTTGTCTTTGC	0.478000														97			55		0	0	0.014410	0	0
KRT4	3851	broad.mit.edu	37	12	53203234	53203234	+	Missense_Mutation	SNP	A	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr12:53203234A>T	uc001saz.3	-	3	989	c.989T>A	c.(988-990)gTg>gAg	p.V330E		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	256						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CTCCAACTCCACCTTGTTCAG	0.537000														103			34		0	0	0.023175	0	0
THOC2	57187	broad.mit.edu	37	X	122801090	122801090	+	Silent	SNP	A	G	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chrX:122801090A>G	uc004etu.3	-	10	1089	c.1057T>C	c.(1057-1059)Tta>Cta	p.L353L	THOC2_uc011muh.1_Silent_p.L274L|THOC2_uc011mui.1_Silent_p.L238L	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	353					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CCAATCTTTAATAAGGCTTCC	0.378000														86			59		0	0	0.014410	0	0
COL11A2	1302	broad.mit.edu	37	6	33156195	33156195	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr6:33156195C>A	uc003ocx.1	-	3	778	c.550G>T	c.(550-552)Gac>Tac	p.D184Y	COL11A2_uc003ocy.1_Missense_Mutation_p.D184Y|COL11A2_uc003ocz.1_Missense_Mutation_p.D184Y|COL11A2_uc003oda.3_Missense_Mutation_p.D184Y	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	184	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCATGGGTGTCCAATACTGGA	0.542000														75			47		7.90463e-13	9.972e-13	0.014410	1	0
CHIA	27159	broad.mit.edu	37	1	111862962	111862962	+	Silent	SNP	C	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:111862962C>T	uc001eas.3	+	11	1462	c.1305C>T	c.(1303-1305)aaC>aaT	p.N435N	CHIA_uc001ear.3_Silent_p.N327N|CHIA_uc001eaq.3_Silent_p.N327N|CHIA_uc009wgc.3_Silent_p.N327N|CHIA_uc001eat.3_Silent_p.N274N|CHIA_uc001eav.3_Silent_p.N274N|CHIA_uc001eau.3_Silent_p.N274N|CHIA_uc009wgd.3_Silent_p.N274N	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	435	Chitin-binding type-2.				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TCAGAGCCAACGGCCTCTACC	0.597000														42			25		0	0	0.030593	0	0
TMCO7	79613	broad.mit.edu	37	16	68953020	68953020	+	Missense_Mutation	SNP	A	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr16:68953020A>T	uc002ewi.4	+	11	2037	c.2025A>T	c.(2023-2025)agA>agT	p.R675S		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	675						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		CATTGCAGAGAGCCTGTGCAA	0.483000														15			9		0	0	0.010729	0	0
NRAP	4892	broad.mit.edu	37	10	115365939	115365939	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr10:115365939C>A	uc001lal.3	-	32	3969	c.3805G>T	c.(3805-3807)Gac>Tac	p.D1269Y	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Missense_Mutation_p.D1269Y|NRAP_uc001lak.3_Missense_Mutation_p.D1234Y	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1269						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGGCTTACGTCACTCAGGTTG	0.473000														48			19		6.21321e-17	8.15173e-17	0.016522	1	0
CPOX	1371	broad.mit.edu	37	3	98309567	98309567	+	Silent	SNP	A	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:98309567A>T	uc003dsx.3	-	2	827	c.720T>A	c.(718-720)gcT>gcA	p.A240A	CPOX_uc011bgz.2_Silent_p.A240A	NM_000097	NP_000088	P36551	HEM6_HUMAN	Homo sapiens coproporphyrinogen oxidase (CPOX), mRNA.	240						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TCACGCCCATAGCACAAAATG	0.388000														50			20		0	0	0.008871	0	0
CDKL2	8999	broad.mit.edu	37	4	76529105	76529105	+	Nonsense_Mutation	SNP	T	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr4:76529105T>A	uc011cbp.2	-	5	1216	c.691A>T	c.(691-693)Aaa>Taa	p.K231*	CDKL2_uc003hiq.3_Nonsense_Mutation_p.K231*|CDKL2_uc010iix.1_Non-coding_Transcript	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	231	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACAGGATTTTTATTAAAAAGC	0.388000														59			39		0	0	0.036044	0	0
IGSF9B	22997	broad.mit.edu	37	11	133816079	133816079	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr11:133816079C>T	uc001qgx.4	-	1	370	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	IGSF9B_uc001qgz.2_Non-coding_Transcript	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	47	Ig-like 1.					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)		GGGTGGATCACGTCGCATCGC	0.627000														31			8		0	0	0.008291	0	0
FARSA	2193	broad.mit.edu	37	19	13039366	13039366	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr19:13039366C>A	uc002mvs.2	-	5	756	c.708G>T	c.(706-708)caG>caT	p.Q236H	FARSA_uc010xmv.1_Missense_Mutation_p.Q205H	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	236					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CCAGGAAGATCTGTCGGAACT	0.652000														12			18		1.33834e-09	1.62583e-09	0.043863	1	0
HELZ	9931	broad.mit.edu	37	17	65134124	65134124	+	Missense_Mutation	SNP	T	G	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr17:65134124T>G	uc010wqk.2	-	21	3066	c.2879A>C	c.(2878-2880)cAa>cCa	p.Q960P	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.Q959P	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCTAAACACTTGATCAGCATA	0.403000														116			65		0	0	0.014410	0	0
SDHAP3	728609	broad.mit.edu	37	5	1574406	1574406	+	RNA	SNP	T	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr5:1574406T>C	uc011cmd.1	-	2		c.440A>G			SDHAP3_uc011cme.2_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA.																		CTCATCAATCTGCACCTGAGG	0.478000														19			3		0	0	0.004672	0	0
PLS3	5358	broad.mit.edu	37	X	114883786	114883786	+	Missense_Mutation	SNP	G	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chrX:114883786G>C	uc004eqe.3	+	15	1932	c.1798G>C	c.(1798-1800)Gtg>Ctg	p.V600L	PLS3_uc004eqd.3_Missense_Mutation_p.V600L|PLS3_uc011mtf.2_Missense_Mutation_p.V587L|PLS3_uc011mth.2_Missense_Mutation_p.V555L|PLS3_uc011mtg.2_Missense_Mutation_p.V573L|PLS3_uc011mti.2_Missense_Mutation_p.V276L|PLS3_uc011mtj.2_Missense_Mutation_p.V194L|PLS3_uc011mtl.2_Non-coding_Transcript	NM_001136025	NP_005023	P13797	PLST_HUMAN	Homo sapiens plastin 3 (PLS3), transcript variant 2, mRNA.	600	Actin-binding 2.|CH 4.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						CGGAGCCAGAGTGTATGCTCT	0.433000														96			62		0	0	0.014410	0	0
PLSCR2	57047	broad.mit.edu	37	3	146167110	146167110	+	Silent	SNP	C	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:146167110C>T	uc021xfa.1	-	7	1187	c.747G>A	c.(745-747)aaG>aaA	p.K249K	PLSCR2_uc003evw.2_Silent_p.K245K|PLSCR2_uc003evv.2_Silent_p.K176K	NM_001199978	NP_001186907	Q9NRY7	PLS2_HUMAN	Homo sapiens phospholipid scramblase 2 (PLSCR2), transcript variant 1, mRNA.	176					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						CAGACCAGTGCTTAGAAATCC	0.328000														106			68		0	0	0.014410	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96592980	96592980	+	RNA	SNP	C	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr2:96592980C>T	uc010yug.1	-	26		c.1933G>A			ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript					Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GATTGTTGTCCCTCCTTTATT	0.363000														54			26		0	0	0.030593	0	0
CNNM4	26504	broad.mit.edu	37	2	97428005	97428005	+	Nonsense_Mutation	SNP	C	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr2:97428005C>A	uc002swx.3	+	0	1367	c.1269C>A	c.(1267-1269)taC>taA	p.Y423*		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	423	CBS 1.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						ATATTCTCTACGTCAAAGACT	0.502000														107			59		8.50881e-52	1.23491e-51	0.014410	1	0
PRSS3	5646	broad.mit.edu	37	9	33798069	33798069	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr9:33798069T>C	uc003ztj.4	+	2	665	c.614T>C	c.(613-615)cTg>cCg	p.L205P	PRSS3_uc003zti.4_Missense_Mutation_p.L162P|PRSS3_uc022bfu.1_Missense_Mutation_p.L141P|PRSS3_uc003ztl.4_Missense_Mutation_p.L148P	NM_007343	NP_031369	P35030	TRY3_HUMAN	Homo sapiens protease, serine, 3 (PRSS3), transcript variant 1, mRNA.	205	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GGCAACACTCTGAGCTTTGGT	0.572000														82			43		0	0	0.014410	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232649814	232649814	+	Silent	SNP	A	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:232649814A>T	uc001hvg.3	-	0	1430	c.1272T>A	c.(1270-1272)atT>atA	p.I424I		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	424					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAGAGAGCGCAATCCGCCTGT	0.517000														139			86		0	0	0.014410	0	0
PRPF18	8559	broad.mit.edu	37	10	13653627	13653627	+	Missense_Mutation	SNP	T	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr10:13653627T>A	uc001imp.3	+	5	671	c.523T>A	c.(523-525)Tcc>Acc	p.S175T	PRPF18_uc001imq.3_Intron	NM_003675	NP_003666	Q99633	PRP18_HUMAN	Homo sapiens PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae) (PRPF18), mRNA.	175					RNA splicing|mRNA processing	nuclear speck|spliceosomal complex		p.E174Q(1)		central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						GCTTGGAGAGTCCTTAGGGAA	0.423000														55			37		0	0	0.019004	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140741729	140741729	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr5:140741729G>A	uc003ljs.2	+	0	2027	c.2027G>A	c.(2026-2028)aGc>aAc	p.S676N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.S676N|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	678	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGACCTCAGCGACCGCCGG	0.602000														23			39		0	0	0.027894	0	0
MPEG1	219972	broad.mit.edu	37	11	58978386	58978386	+	Silent	SNP	A	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr11:58978386A>T	uc001nnu.4	-	0	2109	c.1953T>A	c.(1951-1953)ggT>ggA	p.G651G		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	651						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CTCCTGACAGACCACCACCAT	0.577000														106			51		0	0	0.014410	0	0
CHD1	1105	broad.mit.edu	37	5	98192299	98192299	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr5:98192299G>A	uc003knf.3	-	34	5066	c.4918C>T	c.(4918-4920)Cat>Tat	p.H1640Y	CHD1_uc010jbn.3_Missense_Mutation_p.H366Y	NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	1640	3 X 5 AA repeats of H-S-D-H-R.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TGGTCTGAATGTAACCGATGA	0.428000														15			24		0	0	0.024334	0	0
IQCF2	389123	broad.mit.edu	37	3	51897303	51897303	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:51897303T>C	uc003dbt.1	+	2	450	c.412T>C	c.(412-414)Tgc>Cgc	p.C138R	IQCF1_uc003dbq.4_Intron|IQCF2_uc003dbu.1_Non-coding_Transcript	NM_203424	NP_982248	Q8IXL9	IQCF2_HUMAN	Homo sapiens IQ motif containing F2 (IQCF2), mRNA.	138										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATGCCACAACTGCCAGACCTG	0.577000														147			10		0	0	0.010729	0	0
CDKAL1	54901	broad.mit.edu	37	6	20548882	20548882	+	Missense_Mutation	SNP	T	G	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr6:20548882T>G	uc003ndd.2	+	3	399	c.232T>G	c.(232-234)Tca>Gca	p.S78A	CDKAL1_uc003nde.2_Intron|CDKAL1_uc021ymk.1_Missense_Mutation_p.S78A|CDKAL1_uc010jpo.1_Missense_Mutation_p.S78A|CDKAL1_uc003ndb.1_Missense_Mutation_p.S78A	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	78	MTTase N-terminal.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TCATAATAATTCAGATGGAGA	0.294000														66			44		0	0	0.014410	0	0
RABEP2	79874	broad.mit.edu	37	16	28925762	28925762	+	Missense_Mutation	SNP	T	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr16:28925762T>A	uc002drq.3	-	4	737	c.689A>T	c.(688-690)gAc>gTc	p.D230V	NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_Missense_Mutation_p.D159V|RABEP2_uc010byn.3_Missense_Mutation_p.D230V|RABEP2_uc002drr.3_Missense_Mutation_p.D230V	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA.	230					endocytosis|protein transport	early endosome	GTPase activator activity|growth factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						GGAGGCGCTGTCATCGCAGTT	0.682000														34			10		0	0	0.008291	0	0
NUP214	8021	broad.mit.edu	37	9	134019822	134019822	+	Missense_Mutation	SNP	T	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr9:134019822T>A	uc004cag.3	+	11	1561	c.1450T>A	c.(1450-1452)Ttt>Att	p.F484I	NUP214_uc004cah.3_Missense_Mutation_p.F484I|NUP214_uc004cai.3_5'UTR|NUP214_uc004caf.1_Missense_Mutation_p.F484I|NUP214_uc010mzf.3_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	484	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)		TGTGTTCTCCTTTGGTTCTTC	0.582000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									272			141		0	0	0.014410	0	0
C3orf14	57415	broad.mit.edu	37	3	62317065	62317065	+	Silent	SNP	T	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:62317065T>A	uc003dlf.3	+	4	387	c.243T>A	c.(241-243)gtT>gtA	p.V81V	C3orf14_uc010hnq.3_Silent_p.V81V|C3orf14_uc003dlg.3_Silent_p.V81V	NM_020685	NP_065736	Q9HBI5	CC014_HUMAN	Homo sapiens chromosome 3 open reading frame 14 (C3orf14), mRNA.	81										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		CTGAGGTGGTTTCTCTTGAGG	0.393000														72			49		0	0	0.014410	0	0
ANKRD44	91526	broad.mit.edu	37	2	197889959	197889959	+	Silent	SNP	T	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr2:197889959T>C	uc021vuj.1	-	16	1876	c.1683A>G	c.(1681-1683)gaA>gaG	p.E561E	ANKRD44_uc002utz.4_Silent_p.E268E|ANKRD44_uc021vuk.1_Silent_p.E536E	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	561							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAGAATCTGATTCTTCAAATC	0.388000														53			33		0	0	0.019004	0	0
ZNF674	641339	broad.mit.edu	37	X	46401551	46401551	+	Splice_Site	SNP	T	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chrX:46401551T>A	uc004dgr.3	-	3	199	c.-28_splice	c.e3-1		ZNF674_uc011mlg.2_Splice_Site|ZNF674_uc022bvl.1_Splice_Site|ZNF674_uc010nhm.2_Splice_Site	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN	Homo sapiens zinc finger protein 674 (ZNF674), transcript variant 1, mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						AGGATGGAGATCTACAAATAC	0.408000														20			13		0	0	0.016723	0	0
C14orf49	161176	broad.mit.edu	37	14	95903278	95903278	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr14:95903278A>G	uc001yei.4	-	13	2432	c.2417T>C	c.(2416-2418)tTc>tCc	p.F806S	C14orf49_uc010avi.3_Missense_Mutation_p.F801S	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	806					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		GAGCTGGGAGAAATCTTCATG	0.517000														71			55		0	0	0.014410	0	0
FLII	2314	broad.mit.edu	37	17	18150014	18150014	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr17:18150014C>T	uc002gsr.1	-	22	2996	c.2945G>A	c.(2944-2946)tGc>tAc	p.C982Y	FLII_uc002gsq.1_Missense_Mutation_p.C853Y|FLII_uc010vxn.1_Missense_Mutation_p.C951Y|FLII_uc010vxo.1_Missense_Mutation_p.C927Y|FLII_uc002gss.1_Missense_Mutation_p.C981Y	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	982					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GTACACGATGCACTGGAAGtc	0.567000														20			9		0	0	0.004482	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000														9			4		0	0	0.009096	0	0
MCCC1	56922	broad.mit.edu	37	3	182789038	182789038	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:182789038T>C	uc003fle.3	-	5	736	c.599A>G	c.(598-600)tAt>tGt	p.Y200C	MCCC1_uc010hxi.3_Non-coding_Transcript|MCCC1_uc011bqo.2_Non-coding_Transcript|MCCC1_uc003flf.3_Missense_Mutation_p.Y83C|MCCC1_uc003flg.3_Missense_Mutation_p.Y91C|MCCC1_uc011bqp.1_Missense_Mutation_p.Y153C|MCCC1_uc011bqq.1_Missense_Mutation_p.Y91C	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA.	200	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CATGACAGGATAGCCAATTCT	0.463000														85			26		0	0	0.027356	0	0
BC101079	0	broad.mit.edu	37	15	102292785	102292785	+	Missense_Mutation	SNP	C	G	G	rs61084368		TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr15:102292785C>G	uc010usj.2	+	3	432	c.373C>G	c.(373-375)Cag>Gag	p.Q125E	DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602000														38			5		0	0	0.004482	0	0
KLRK1	22914	broad.mit.edu	37	12	10541382	10541382	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr12:10541382G>A	uc009zhj.3	-	1	205	c.28C>T	c.(28-30)Cga>Tga	p.R10*	AK096314_uc001qya.1_Intron|KLRK1_uc001qyb.3_Non-coding_Transcript|KLRK1_uc001qyc.3_Nonsense_Mutation_p.R10*|KLRK1_uc009zhk.3_Nonsense_Mutation_p.R10*|KLRK1_uc001qyd.3_Nonsense_Mutation_p.R10*	NM_007360	NP_001186734	P26718	NKG2D_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily K, member 1 (KLRK1), mRNA.	10					T cell costimulation|natural killer cell activation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						CAGCTGTGTCGAGACCTCCGA	0.388000														50			38		0	0	0.039052	0	0
STX17	55014	broad.mit.edu	37	9	102730748	102730748	+	Silent	SNP	G	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr9:102730748G>A	uc004bal.4	+	7	838	c.702G>A	c.(700-702)gtG>gtA	p.V234V	STX17_uc010msx.3_Non-coding_Transcript|STX17_uc011lvd.2_Non-coding_Transcript	NM_017919	NP_060389	P56962	STX17_HUMAN	Homo sapiens syntaxin 17 (STX17), mRNA.	234					intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CTCTGCCTGTGGCAGGTGCAC	0.488000														38			4		0	0	0.014758	0	0
TINF2	26277	broad.mit.edu	37	14	24709984	24709984	+	Silent	SNP	G	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr14:24709984G>C	uc001woa.4	-	5	1044	c.702C>G	c.(700-702)gcC>gcG	p.A234A	TINF2_uc010alm.3_Silent_p.A58A|TINF2_uc001wob.4_Silent_p.A234A|TINF2_uc010tof.2_Silent_p.A199A|TINF2_uc001woc.4_3'UTR	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	Homo sapiens TERF1 (TRF1)-interacting nuclear factor 2 (TINF2), transcript variant 1, mRNA.	234					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		TGCCAGGCTTGGCTTTTGGCA	0.552000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome					93			30		0	0	0.012213	0	0
DMXL2	23312	broad.mit.edu	37	15	51790750	51790750	+	Splice_Site	SNP	T	G	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr15:51790750T>G	uc010ufy.2	-	18	4897	c.4672_splice	c.e18+1	p.G1558_splice	DMXL2_uc002abf.3_Splice_Site_p.G1558_splice|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1558						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AATATTTACCTGAGCAACTCT	0.368000														23			15		0	0	0.024245	0	0
DRD2	1813	broad.mit.edu	37	11	113288847	113288847	+	Silent	SNP	C	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr11:113288847C>T	uc001pnz.3	-	1	618	c.297G>A	c.(295-297)gaG>gaA	p.E99E	DRD2_uc010rwv.2_Silent_p.E98E|DRD2_uc001poa.4_Silent_p.E99E|DRD2_uc001pob.4_Silent_p.E99E|DRD2_uc009yyr.1_Silent_p.E99E	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	99					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TGAATTTCCACTCACCTACCA	0.532000														38			15		0	0	0.028581	0	0
RSBN1	54665	broad.mit.edu	37	1	114308975	114308975	+	Missense_Mutation	SNP	G	C	C			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:114308975G>C	uc001edq.3	-	6	2072	c.2036C>G	c.(2035-2037)cCt>cGt	p.P679R	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	679						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACATTTCTAGGGATGAAGTA	0.443000														95			67		0	0	0.014410	0	0
FAR2	55711	broad.mit.edu	37	12	29469910	29469910	+	Nonsense_Mutation	SNP	T	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr12:29469910T>A	uc001rit.3	+	8	1360	c.1092T>A	c.(1090-1092)taT>taA	p.Y364*	FAR2_uc001ris.4_Nonsense_Mutation_p.Y364*|FAR2_uc009zjm.3_Nonsense_Mutation_p.Y267*|AX746523_uc001riu.1_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	Homo sapiens fatty acyl CoA reductase 2 (FAR2), mRNA.	364					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CCATTATCTATGACTGCTATC	0.502000														171			110		0	0	0.014410	0	0
KIAA0020	9933	broad.mit.edu	37	9	2810352	2810352	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr9:2810352C>G	uc003zhp.1	-	15	1811	c.1715G>C	c.(1714-1716)gGg>gCg	p.G572A	KIAA0020_uc003zhq.1_Missense_Mutation_p.G571A	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	572						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		ACCTTCTCTCCCATTTTCTTT	0.393000														59			20		0	0	0.008871	0	0
COL9A1	1297	broad.mit.edu	37	6	71003975	71003975	+	Silent	SNP	G	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr6:71003975G>A	uc003pfg.4	-	4	750	c.591C>T	c.(589-591)gaC>gaT	p.D197D		NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	197	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.D197G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCCTGTTGCAGTCAACAAAAA	0.433000														119			65		0	0	0.014410	0	0
LRRK2	120892	broad.mit.edu	37	12	40758851	40758851	+	Splice_Site	SNP	A	G	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr12:40758851A>G	uc001rmg.4	+	49	7511	c.7390_splice	c.e49+1	p.G2464_splice	LRRK2_uc009zjw.3_Splice_Site_p.G1302_splice|LRRK2_uc001rmi.3_Silent_p.L1296L	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	2464					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CAGCACAGCTAGGCAAGTTTC	0.343000														53			29		0	0	0.037714	0	0
RGS18	64407	broad.mit.edu	37	1	192128419	192128419	+	Silent	SNP	C	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:192128419C>T	uc001gsg.3	+	1	365	c.189C>T	c.(187-189)tcC>tcT	p.S63S		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	Homo sapiens regulator of G-protein signaling 18 (RGS18), mRNA.	63					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.R62S(1)|p.R62H(1)		kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACACCCGCTCCAGTAGATCTG	0.363000														50			17		0	0	0.043863	0	0
COG1	9382	broad.mit.edu	37	17	71197359	71197359	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr17:71197359A>G	uc002jjg.3	+	6	1429	c.1393A>G	c.(1393-1395)Atc>Gtc	p.I465V	COG1_uc002jjf.1_Missense_Mutation_p.I465V|COG1_uc002jjh.3_Missense_Mutation_p.I465V	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	Homo sapiens component of oligomeric golgi complex 1 (COG1), mRNA.	465					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			AAATAAGCACATCCACTTTGA	0.522000														107			65		0	0	0.014410	0	0
BEGAIN	57596	broad.mit.edu	37	14	101012903	101012903	+	Silent	SNP	G	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr14:101012903G>A	uc010txa.2	-	1	257	c.111C>T	c.(109-111)caC>caT	p.H37H	BEGAIN_uc001yhp.3_5'UTR|BEGAIN_uc001yhq.3_Silent_p.H37H	NM_001159531	NP_065887	Q9BUH8	BEGIN_HUMAN	Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA.	37						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				TCTCCAGGTAGTGGCGCGTGG	0.692000														64			36		0	0	0.030466	0	0
ZNF599	148103	broad.mit.edu	37	19	35250173	35250173	+	Missense_Mutation	SNP	T	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr19:35250173T>A	uc010edn.1	-	3	1921	c.1533A>T	c.(1531-1533)gaA>gaT	p.E511D	ZNF599_uc010edm.2_Missense_Mutation_p.E474D	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	511					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CCTTTCCACATTCTCTACAAA	0.418000														93			64		0	0	0.014410	0	0
STIL	6491	broad.mit.edu	37	1	47717027	47717027	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:47717027delT	uc001crd.1	-	16	3803	c.3648delA	c.(3646-3648)ccafs	p.P1216fs	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Frame_Shift_Del_p.P1169fs|STIL_uc010omo.1_Frame_Shift_Del_p.P1198fs|STIL_uc001crc.1_Frame_Shift_Del_p.P1215fs|STIL_uc001cre.1_Frame_Shift_Del_p.P1215fs	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	1215					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CTAAGAAAGCTGGCTTTTCAG	0.423													---	106	---	---	71	---					
PRPF38A	84950	broad.mit.edu	37	1	52881045	52881046	+	In_Frame_Ins	INS	-	AGT	AGT			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:52881045_52881046insAGT	uc001ctv.4	+	8	1086_1087	c.883_884insAGT	c.(883-885)aag>aAGTag	p.295_296ins*	PRPF38A_uc001ctw.4_In_Frame_Ins_p.106_107insS	NM_032864	NP_116253	Q8NAV1	PR38A_HUMAN	Homo sapiens PRP38 pre-mRNA processing factor 38 (yeast) domain containing A (PRPF38A), mRNA.	295					RNA splicing|mRNA processing	spliceosomal complex				cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						GAGCCACTCAAAGTCTCCCGAA	0.401													---	32	---	---	19	---					
NBPF10	100132406	broad.mit.edu	37	1	145323659	145323659	+	Frame_Shift_Del	DEL	A	-	-			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:145323659delA	uc021oul.1	+	26	3531	c.3496delA	c.(3496-3498)aaafs	p.K1166fs	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021oum.1_Intron|NBPF10_uc021oun.1_Intron|NBPF10_uc021ouo.1_Intron|NBPF10_uc021oup.1_Intron|NBPF10_uc010oyp.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	1166								p.I1165F(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGCAGGAATTAAAAAGGACGA	0.473													---	1176	---	---	7	---					
PBX1	5087	broad.mit.edu	37	1	164781319	164781320	+	Frame_Shift_Ins	INS	-	GTATA	GTATA			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr1:164781319_164781320insGTATA	uc001gct.3	+	5	1393_1394	c.930_931insGTATA	c.(928-933)gctgtcfs	p.A310fs	PBX1_uc010pku.2_Frame_Shift_Ins_p.A310fs|PBX1_uc001gcs.3_Frame_Shift_Ins_p.A310fs|PBX1_uc010pkv.2_Frame_Shift_Ins_p.A227fs|PBX1_uc010pkw.1_Frame_Shift_Ins_p.A200fs	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	310					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CCAAAACAGCTGTCACTGCTAC	0.455			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								---	79	---	---	23	---					
CHL1	10752	broad.mit.edu	37	3	407694	407695	+	Frame_Shift_Ins	INS	-	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:407694_407695insT	uc003bot.3	+	14	2289_2290	c.1647_1648insT	c.(1645-1650)gaattafs	p.E549fs	CHL1_uc003bou.3_Frame_Shift_Ins_p.E533fs|CHL1_uc003bow.2_Frame_Shift_Ins_p.E533fs|CHL1_uc011asi.2_Frame_Shift_Ins_p.E549fs|BC065754_uc003box.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	533	Ig-like C2-type 6.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.E549Q(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATATGCTTGAATTACATTGTGA	0.361													---	51	---	---	36	---					
LRTM1	57408	broad.mit.edu	37	3	54952818	54952823	+	In_Frame_Del	DEL	CAGGAA	-	-			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:54952818_54952823delCAGGAA	uc003dhl.3	-	2	835_840	c.701_706delTTCCTG	c.(700-708)cttcctgct>cct	p.234_236LPA>P	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	234	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GGATCAGGAGCAGGAAGAGGGCAGGG	0.597													---	29	---	---	14	---					
ZBTB20	26137	broad.mit.edu	37	3	114057877	114057878	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr3:114057877_114057878delAT	uc003ebi.3	-	4	2380_2381	c.2200_2201delAT	c.(2200-2202)atgfs	p.M734fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.M661fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.M661fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.M661fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.M661fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.M661fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.M661fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ATGCATCCTCATGTGGTCGTTG	0.480													---	86	---	---	56	---					
DIAPH1	1729	broad.mit.edu	37	5	140953588	140953589	+	In_Frame_Ins	INS	-	GAT	GAT			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr5:140953588_140953589insGAT	uc003llb.4	-	15	1969_1970	c.1828_1829insATC	c.(1828-1830)cct>cATCct	p.609_610insH	DIAPH1_uc003llc.4_In_Frame_Ins_p.600_601insH|DIAPH1_uc021yep.1_In_Frame_Ins_p.609_610insH|DIAPH1_uc021yeq.1_In_Frame_Ins_p.600_601insH|DIAPH1_uc010jgc.1_In_Frame_Ins_p.48_49insH	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	609	FH1.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			aggaggaggaggaggaggagTG	0.584													---	3	---	---	3	---					
F12	2161	broad.mit.edu	37	5	176829362	176829363	+	Frame_Shift_Del	DEL	GC	-	-			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr5:176829362_176829363delGC	uc003mgo.4	-	13	1827_1828	c.1778_1779delGC	c.(1777-1779)cgcfs	p.R593fs	PFN3_uc003mgl.2_5'Flank	NM_000505	NP_000496	P00748	FA12_HUMAN	Homo sapiens coagulation factor XII (Hageman factor) (F12), mRNA.	593	Peptidase S1.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGCTTGTTGCGGTCACCACA	0.619									Hereditary Angioedema				---	32	---	---	13	---					
TNKS2	80351	broad.mit.edu	37	10	93601945	93601946	+	Frame_Shift_Ins	INS	-	A	A			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr10:93601945_93601946insA	uc001khp.3	+	15	2153_2154	c.1856_1857insA	c.(1855-1857)acafs	p.T619fs		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	619					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	p.N622fs*29(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCAGACCCTACAAAAAAAAACA	0.391													---	63	---	---	8	---					
FUT4	2526	broad.mit.edu	37	11	94278647	94278649	+	In_Frame_Del	DEL	TTT	-	-			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr11:94278647_94278649delTTT	uc001pez.3	+	0	1631_1633	c.1348_1350delTTT	c.(1348-1350)tttdel	p.F450del	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.2_5'Flank	NM_002033	NP_002024	P22083	FUT4_HUMAN	Homo sapiens fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) (FUT4), mRNA.	450					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTACGAGCGCTTTGTGCCCCGCG	0.655													---	50	---	---	25	---					
CLEC1B	51266	broad.mit.edu	37	12	10145838	10145838	+	Frame_Shift_Del	DEL	A	-	-			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr12:10145838delA	uc001qwu.3	-	5	794	c.594delT	c.(592-594)tttfs	p.F198fs	CLEC1B_uc009zhd.3_Frame_Shift_Del_p.F165fs	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN	Homo sapiens C-type lectin domain family 1, member B (CLEC1B), transcript variant 1, mRNA.	198	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TCCCATTATGAAAATAAGCAC	0.373													---	121	---	---	72	---					
AHNAK2	113146	broad.mit.edu	37	14	105408067	105408067	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr14:105408067delT	uc010axc.1	-	6	13841	c.13721delA	c.(13720-13722)gacfs	p.D4574fs	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Frame_Shift_Del_p.D4474fs	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4574						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTTTCAGGTCCAGCTTGGG	0.627													---	210	---	---	94	---					
SKAP1	8631	broad.mit.edu	37	17	46423341	46423341	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr17:46423341delT	uc002ini.1	-	3	318	c.206delA	c.(205-207)gatfs	p.D69fs	SKAP1_uc002inj.1_Frame_Shift_Del_p.D69fs|SKAP1_uc010dbd.1_5'UTR|SKAP1_uc010dbe.1_Frame_Shift_Del_p.D69fs	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	69					T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|plasma membrane	SH2 domain binding|antigen binding|protein kinase binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GTGATTATCATCAGAGCTGTC	0.438													---	37	---	---	30	---					
SOGA2	23255	broad.mit.edu	37	18	8813134	8813135	+	Frame_Shift_Ins	INS	-	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chr18:8813134_8813135insT	uc002knr.2	+	11	2904_2905	c.2762_2763insT	c.(2761-2763)aacfs	p.N921fs	SOGA2_uc002knq.2_Frame_Shift_Ins_p.N880fs|SOGA2_uc002kns.2_Frame_Shift_Ins_p.N289fs	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1231																	AGCGAGAAGAACTGGAACCGGG	0.574													---	12	---	---	14	---					
ARMCX1	51309	broad.mit.edu	37	X	100808732	100808733	+	Frame_Shift_Ins	INS	-	T	T			TCGA-GL-7773-01A-11D-2136-08	TCGA-GL-7773-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a0f4f1-391f-4eff-9dc9-023a2993549c	06b70c78-6523-4956-a2b4-dd78e80cad60	g.chrX:100808732_100808733insT	uc022cak.1	+	0	819_820	c.819_820insT	c.(817-822)aacttgfs	p.N273fs	ARMCX1_uc004ehv.3_Frame_Shift_Ins_p.N273fs|ARMCX1_uc004ehw.3_Frame_Shift_Ins_p.N273fs	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	Homo sapiens armadillo repeat containing, X-linked 1 (ARMCX1), mRNA.	273						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						CCCTTAATAACTTGAGTGTGAA	0.426													---	59	---	---	44	---					
