Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NIT2	56954	broad.mit.edu	37	3	100059940	100059940	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:100059940G>T	uc003dtv.3	+	3	345	c.271G>T	c.(271-273)Ggg>Tgg	p.G91W	NIT2_uc011bha.1_Missense_Mutation_p.G91W	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	Homo sapiens nitrilase family, member 2 (NIT2), mRNA.	91	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						AGAGGATGCTGGGAAATTATA	0.373000													4	41					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940816	144940816	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:144940816C>A	uc003zaa.1	-	0	6619	c.6606G>T	c.(6604-6606)acG>acT	p.T2202T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2202						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.T2202T(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCTCCGTCCCGTTTCCAGGT	0.592000													8	281					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85476419	85476419	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:85476419C>A	uc002blg.3	+	12	1329	c.1127C>A	c.(1126-1128)cCt>cAt	p.P376H	SLC28A1_uc010bnb.3_Missense_Mutation_p.P376H|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.P376H|SLC28A1_uc010upg.1_Missense_Mutation_p.P376H	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	376					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATGGCTGCCCCTTGTGCCTTG	0.562000													8	187					0	0	1	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56763412	56763412	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:56763412C>A	uc003dih.2	-	12	1673	c.1563G>T	c.(1561-1563)tcG>tcT	p.S521S	ARHGEF3_uc011bew.1_Silent_p.S489S|ARHGEF3_uc011bev.1_Silent_p.S460S|ARHGEF3_uc003dif.2_Silent_p.S495S|ARHGEF3_uc003dig.2_Silent_p.S489S|ARHGEF3_uc010hmy.1_Silent_p.S287S	NM_001128615	NP_001122087	Q9NR81	ARHG3_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), transcript variant 1, mRNA.	489					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)		ACTCACTGTCCGATTGGTCCA	0.552000													6	105					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117301514	117301514	+	Silent	SNP	G	G	T	rs141667886		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:117301514G>T	uc001prh.1	-	31	5792	c.5790C>A	c.(5788-5790)acC>acA	p.T1930T		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1870					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGGTGAGGCGGTAAAGCGGC	0.612000													5	215					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152647464	152647464	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:152647464C>A	uc021zhb.1	-	76	15483	c.15260G>T	c.(15259-15261)cGg>cTg	p.R5087L	SYNE1_uc003qot.4_Missense_Mutation_p.R5016L|SYNE1_uc003qou.4_Missense_Mutation_p.R5087L|SYNE1_uc010kiz.3_Missense_Mutation_p.R842L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5087					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.R5087W(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCAGAGTCCCGGCTCATCCT	0.473000										HNSCC(10;0.0054)			4	112					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6973079	6973079	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:6973079G>T	uc001qri.4	+	15	2099	c.2040G>T	c.(2038-2040)acG>acT	p.T680T	USP5_uc001qrh.4_Silent_p.T657T	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	680	UBA 1.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TCTACTACACGGGCAACAGCG	0.597000													4	82					0	0	1	0	0
GATA6	2627	broad.mit.edu	37	18	19780663	19780663	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr18:19780663C>A	uc002ktt.1	+	6	1930	c.1665C>A	c.(1663-1665)ccC>ccA	p.P555P	GATA6_uc002ktu.1_Silent_p.P555P	NM_005257	NP_005248	Q92908	GATA6_HUMAN	Homo sapiens GATA binding protein 6 (GATA6), mRNA.	555					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GCACCAATCCCGAGAACAGCG	0.607000													5	132					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10443926	10443926	+	Silent	SNP	C	C	A	rs149226182		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:10443926C>A	uc003bvt.3	-	3	943	c.504G>T	c.(502-504)acG>acT	p.T168T	ATP2B2_uc003bvv.3_Silent_p.T168T|ATP2B2_uc003bvw.3_Silent_p.T168T|ATP2B2_uc010hdp.2_Silent_p.T168T|ATP2B2_uc010hdo.3_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	168					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CATTGAAGGCCGTGACCAGGA	0.612000													6	218					0	0	1	0	0
GSTM2P1	442245	broad.mit.edu	37	6	111368551	111368551	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:111368551G>T	uc003puq.3	-	0	207	c.72C>A	c.(70-72)ccC>ccA	p.P24P						Homo sapiens glutathione S-transferase mu 2 (muscle) pseudogene 1 (GSTM2P1), non-coding RNA.																		AGGGCAGATTGGGAAAGTCCA	0.507000													7	95					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146823514	146823514	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:146823514C>A	uc003ikn.3	-	1	945	c.897G>T	c.(895-897)gcG>gcT	p.A299A	ZNF827_uc003ikm.3_Silent_p.A299A|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GAAGACTGCCCGCAGCCCTTG	0.617000													6	114					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4927413	4927413	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:4927413C>A	uc002cyb.3	+	16	3632	c.3293C>A	c.(3292-3294)cCg>cAg	p.P1098Q	UBN1_uc010uxw.2_Intron|UBN1_uc002cyc.3_Missense_Mutation_p.P1098Q	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	1098					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CACTCCAGCCCGCCCCATGCA	0.592000													8	322					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17707146	17707146	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:17707146C>A	uc002grm.3	+	3	6111	c.5642C>A	c.(5641-5643)cCg>cAg	p.P1881Q		NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1881						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TACCACTACCCGTGTGCCAGC	0.612000													4	82					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714931	138714931	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:138714931C>A	uc004cgr.4	-	10	1576	c.1576G>T	c.(1576-1578)Ggg>Tgg	p.G526W	CAMSAP1_uc004cgq.4_Missense_Mutation_p.G416W|CAMSAP1_uc010nbg.3_Missense_Mutation_p.G248W	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	526						cytoplasm|microtubule		p.G526W(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AGGCTCTTCCCGTGGCTCTTC	0.552000													7	262					0	0	1	0	0
FGF10	2255	broad.mit.edu	37	5	44388499	44388499	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:44388499C>A	uc003jog.1	-	0	286	c.286G>T	c.(286-288)Ggg>Tgg	p.G96W		NM_004465	NP_004456	O15520	FGF10_HUMAN	Homo sapiens fibroblast growth factor 10 (FGF10), mRNA.	96					ERK1 and ERK2 cascade|actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of Ras protein signal transduction|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					CTGACCTTCCCGTTCTTCTCA	0.532000													6	90					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597547	136597547	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:136597547C>A	uc003qgx.1	-	4	1369	c.1116G>T	c.(1114-1116)gaG>gaT	p.E372D	BCLAF1_uc003qgy.1_Missense_Mutation_p.E370D|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.E370D|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	372					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCCATTCTCCCTCTGCCCTCC	0.433000													9	382					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30092850	30092850	+	Splice_Site	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:30092850C>A	uc001zcr.3	-	2	559	c.84_splice	c.e2+1	p.R28_splice	TJP1_uc010azl.3_Splice_Site_p.R16_splice|TJP1_uc001zcq.3_Splice_Site_p.R32_splice|TJP1_uc001zcs.3_Splice_Site_p.R28_splice	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	28	PDZ 1.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CAAACTTACCCTGTGAAGCGT	0.398000													5	84					0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144671277	144671277	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:144671277G>T	uc003yyq.2	-	0	1354	c.1125C>A	c.(1123-1125)gcC>gcA	p.A375A	EEF1D_uc003yyp.2_Silent_p.A325A|EEF1D_uc011lki.2_Intron|EEF1D_uc003yyv.3_Intron|EEF1D_uc003yyu.3_Intron|EEF1D_uc011lkk.2_Intron|EEF1D_uc003yyt.3_Silent_p.A325A|EEF1D_uc003yyr.3_Silent_p.A325A|EEF1D_uc003yys.3_Intron|EEF1D_uc011lkl.2_Intron	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGCGGCACTCGGCGCTGTCGT	0.692000													5	34					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524975	112524975	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:112524975G>T	uc001ebu.1	-	1	854	c.374C>A	c.(373-375)cCg>cAg	p.P125Q	KCND3_uc001ebv.1_Missense_Mutation_p.P125Q	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	125						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GATGATCTCCGGGAGGATGCC	0.617000													4	70					0	0	1	0	0
EIF2C3	192669	broad.mit.edu	37	1	36505490	36505490	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:36505490C>A	uc001bzp.3	+	14	2287	c.1942C>A	c.(1942-1944)Cgg>Agg	p.R648R	EIF2C3_uc001bzq.3_Silent_p.R414R	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA.	648	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4)	33		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTCCATGGTCCGGGAACTTCT	0.483000													4	79					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177052766	177052766	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:177052766C>A	uc003iuj.3	+	7	1350	c.1047C>A	c.(1045-1047)ccC>ccA	p.P349P	WDR17_uc003ium.4_Silent_p.P325P|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	349										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CAGTTCCACCCCCAACTTTAA	0.388000													8	179					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26707840	26707840	+	Silent	SNP	C	C	A	rs150994059		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr22:26707840C>A	uc003acb.3	+	7	1984	c.1788C>A	c.(1786-1788)ccC>ccA	p.P596P	SEZ6L_uc003acd.3_Silent_p.P596P|SEZ6L_uc011akd.2_Silent_p.P596P|SEZ6L_uc003ace.3_Silent_p.P596P|SEZ6L_uc011akc.2_Silent_p.P596P|SEZ6L_uc003acc.3_Silent_p.P596P|SEZ6L_uc003acf.1_Silent_p.P369P|SEZ6L_uc010gvc.1_Silent_p.P369P	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	596	Sushi 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCTGCGACCCCGGCCACTCCC	0.567000													6	250					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427749	97427749	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:97427749G>T	uc002swx.3	+	0	1111	c.1013G>T	c.(1012-1014)cGg>cTg	p.R338L		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	338	DUF21.				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						GTTTACAACCGGGAGAAGCTG	0.493000													6	113					0	0	1	0	0
FAHD2A	51011	broad.mit.edu	37	2	96071494	96071494	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:96071494C>A	uc002sur.3	+	1	367	c.188C>A	c.(187-189)cCg>cAg	p.P63Q		NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 2A (FAHD2A), mRNA.	63							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						CCCACACTCCCGAAGACGATG	0.607000													4	76					0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124596398	124596398	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:124596398G>T	uc001lgs.3	-	6	1717	c.766C>A	c.(766-768)Cgg>Agg	p.R256R	CUZD1_uc001lgp.3_5'UTR|CUZD1_uc009yad.3_5'UTR|CUZD1_uc009yaf.3_Intron|CUZD1_uc001lgr.3_5'UTR|CUZD1_uc010qty.2_5'UTR|CUZD1_uc009yae.3_5'UTR|CUZD1_uc010qtz.2_Silent_p.R256R	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	256	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GAAAATCCCCGGTAAGAATTG	0.423000													5	89					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26225294	26225294	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:26225294C>A	uc003sxq.3	+	3	2248	c.1976C>A	c.(1975-1977)cCc>cAc	p.P659H		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 3 (NFE2L3), mRNA.	659					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CCAGTCAATCCCAACCACTAT	0.403000													5	78					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73050841	73050841	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:73050841C>A	uc001jro.3	+	8	1720	c.1269C>A	c.(1267-1269)ccC>ccA	p.P423P	UNC5B_uc001jrp.3_Silent_p.P412P	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	423					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GTTTCCACCCCGTCAACTTTA	0.597000													7	279					0	0	1	0	0
MTX1	4580	broad.mit.edu	37	1	155181949	155181949	+	Missense_Mutation	SNP	G	G	T	rs139091255	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:155181949G>T	uc001fjb.3	+	3	816	c.710G>T	c.(709-711)cGg>cTg	p.R237L	THBS3_uc001fja.2_5'Flank|THBS3_uc009wqj.1_5'Flank|MTX1_uc001fjc.3_Intron	NM_002455	NP_002446	Q13505	MTX1_HUMAN	Homo sapiens metaxin 1 (MTX1), transcript variant 1, mRNA.	237					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGTCAGCTCGGCAAGGGGCA	0.577000													4	63					0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799337	45799337	+	Silent	SNP	C	C	A	rs144324031	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:45799337C>A	uc001jcc.1	-	3	843	c.534G>T	c.(532-534)acG>acT	p.T178T	OR13A1_uc001jcd.1_Silent_p.T174T|OR13A1_uc021ppq.1_Silent_p.T178T	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GCATCAGCCCCGTGTGGATGG	0.607000													5	81					0	0	1	0	0
MECP2	4204	broad.mit.edu	37	X	153296742	153296742	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:153296742G>T	uc004fjv.2	-	3	763	c.537C>A	c.(535-537)ccC>ccA	p.P179P	MECP2_uc004fjw.2_Silent_p.P191P	NM_004992	NP_004983	P51608	MECP2_HUMAN	Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 1, mRNA.	179					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAGCTTTGGGAGATTTGG	0.612000													5	77					0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109281269	109281269	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:109281269C>A	uc001tnr.4	+	2	909	c.238C>A	c.(238-240)Cat>Aat	p.H80N	DAO_uc001tnq.4_Missense_Mutation_p.H80N|DAO_uc009zvb.3_Intron|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	80					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						GAGCCATGTCCATTCTCCCAA	0.522000													10	444					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48881478	48881478	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr13:48881478C>A	uc001vcb.3	+	1	366	c.200C>A	c.(199-201)cCa>cAa	p.P67Q	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	67					G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(3)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTAAAGATACCAGATCATGTC	0.318000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			5	66					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33337257	33337257	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr20:33337257G>T	uc002xav.3	-	9	5312	c.2741C>A	c.(2740-2742)cCg>cAg	p.P914Q	NCOA6_uc002xaw.3_Missense_Mutation_p.P914Q|NCOA6_uc021wcd.1_Missense_Mutation_p.P914Q|NCOA6_uc021wce.1_Missense_Mutation_p.P914Q|NCOA6_uc021wcf.1_Missense_Mutation_p.P914Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	914	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|Poly-Lys.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.P914L(2)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTTCTTCTTCGGTTTATTTGC	0.383000													4	104					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149515197	149515197	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:149515197C>A	uc003lro.3	-	2	754	c.285G>T	c.(283-285)acG>acT	p.T95T	PDGFRB_uc010jhd.3_5'UTR|PDGFRB_uc011dcg.1_Silent_p.T95T	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	95	Ig-like C2-type 1.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGTATTCTCCCGTGTCTAGCC	0.587000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								4	107					0	0	1	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518234	161518234	+	Missense_Mutation	SNP	G	G	T	rs145557772		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:161518234G>T	uc001gar.3	-	2	588	c.404C>A	c.(403-405)cCg>cAg	p.P135Q	FCGR3A_uc001gas.3_Missense_Mutation_p.P134Q|FCGR3A_uc001gat.4_Missense_Mutation_p.P99Q|FCGR3A_uc009wuh.3_Missense_Mutation_p.P98Q|FCGR3A_uc009wui.3_Missense_Mutation_p.P99Q	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	99	Ig-like C2-type 2.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	p.D134G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TAGCTGCACCGGGTCACTGAG	0.512000													5	213					0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10404518	10404518	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:10404518A>C	uc002mnu.4	+	6	1675	c.1610A>C	c.(1609-1611)gAg>gCg	p.E537A	ICAM5_uc002mnv.4_Missense_Mutation_p.E412A	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA.	537	Ig-like C2-type 6.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCCGTCATCGAGGGGCTGTTG	0.662000													21	93					0	0	1	0	0
TAGLN3	29114	broad.mit.edu	37	3	111719762	111719762	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:111719762C>A	uc003dym.3	+	2	702	c.324C>A	c.(322-324)acC>acA	p.T108T	TAGLN3_uc003dyl.3_Silent_p.T108T|TAGLN3_uc003dyn.3_Silent_p.T108T|TAGLN3_uc003dyo.3_Silent_p.T108T	NM_001008272	NP_037391	Q9UI15	TAGL3_HUMAN	Homo sapiens transgelin 3 (TAGLN3), transcript variant 2, mRNA.	108	CH.				central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						TCAGAACCACCGACATCTTTC	0.478000													6	189					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70049277	70049277	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:70049277A>T	uc010kak.3	+	24	3616	c.3340A>T	c.(3340-3342)Atg>Ttg	p.M1114L	BAI3_uc003pev.4_Missense_Mutation_p.M1114L|BAI3_uc011dxx.2_Missense_Mutation_p.M320L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1114					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.M1114T(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTTGACGTGGATGTCTGCGGT	0.453000													44	171					0	0	1	0	0
PATE2	399967	broad.mit.edu	37	11	125648648	125648648	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:125648648C>A	uc001qcu.3	-	0	67	c.21G>T	c.(19-21)ctG>ctT	p.L7L	PATE2_uc010sbj.2_Silent_p.L7L	NM_212555	NP_997720	Q6UY27	PATE2_HUMAN	Homo sapiens prostate and testis expressed 2 (PATE2), mRNA.	7						extracellular space				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						AGACTGTGCCCAGGAGAAAGA	0.517000													5	74					0	0	1	0	0
TXNRD2	10587	broad.mit.edu	37	22	19870898	19870898	+	Silent	SNP	G	G	T	rs61736941		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr22:19870898G>T	uc021wlj.1	-	11	1069	c.1036C>A	c.(1036-1038)Cgg>Agg	p.R346R	TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Silent_p.R345R|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqq.1_5'Flank	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	346					cell redox homeostasis|response to oxygen radical	mitochondrion	NADP binding|flavin adenine dinucleotide binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GTGGCTTCCCGGGAGTCCACC	0.607000													5	128					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42751255	42751255	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:42751255C>A	uc003cly.4	-	14	1993	c.1909G>T	c.(1909-1911)Ggg>Tgg	p.G637W		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	637										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TTCTCGCTCCCGGTTGGGTTG	0.607000													5	133					0	0	1	0	0
ZNF181	339318	broad.mit.edu	37	19	35230096	35230096	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:35230096G>T	uc002nvu.3	+	1	516	c.53G>T	c.(52-54)tGg>tTg	p.W18L	ZNF181_uc010xsb.1_Missense_Mutation_p.W18L|ZNF181_uc010xsc.1_5'UTR	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	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)			CATGAAGAGTGGGGATGGCTC	0.448000													6	86					0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79813038	79813038	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:79813038C>A	uc002kbn.1	-	3	801	c.604G>T	c.(604-606)Ggg>Tgg	p.G202W	P4HB_uc002kbm.1_5'UTR	NM_000918	NP_000909	P07237	PDIA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.	202					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.G202G(1)		NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			AGGACAACCCCATCTTTGTCG	0.522000													8	365					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157431632	157431632	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:157431632G>T	uc003qqp.3	+	5	2269	c.2269G>T	c.(2269-2271)Ggg>Tgg	p.G757W	ARID1B_uc003qqo.3_Missense_Mutation_p.G770W|ARID1B_uc003qqn.3_Missense_Mutation_p.G757W|ARID1B_uc003qqq.1_Missense_Mutation_p.G141W	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	757	Ser-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.G756A(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCAGCCACCCGGGAGCCAGTC	0.517000													4	103					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167384959	167384959	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:167384959C>A	uc001gec.3	+	16	2383	c.2144C>A	c.(2143-2145)tCt>tAt	p.S715Y	POU2F1_uc001gee.3_Missense_Mutation_p.S738Y|POU2F1_uc010plh.2_Missense_Mutation_p.S675Y|POU2F1_uc001ged.3_Missense_Mutation_p.S713Y|POU2F1_uc001gef.3_Missense_Mutation_p.S727Y|POU2F1_uc001geg.3_Intron	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	715					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						ACCTCCACCTCTGCTGAGTCC	0.627000													8	258					0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2583464	2583464	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:2583464C>A	uc003smi.3	-	4	851	c.563G>T	c.(562-564)gGg>gTg	p.G188V	BRAT1_uc003smh.4_5'Flank|BRAT1_uc021zyz.1_Missense_Mutation_p.G13V|BRAT1_uc003smj.2_Missense_Mutation_p.G188V	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.	188					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CCAGTCACCCCCCGGCAGGCA	0.662000													6	93					0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135679325	135679325	+	Splice_Site	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:135679325C>A	uc003qgi.3	-	24	3494	c.3110_splice	c.e24-1	p.G1037_splice	AHI1_uc003qgf.3_Splice_Site|AHI1_uc003qgg.3_Splice_Site_p.G487_splice|AHI1_uc003qgh.3_Splice_Site_p.G1037_splice|AHI1_uc003qgj.3_Splice_Site_p.G1037_splice|AHI1_uc003qgk.4_Splice_Site	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	1037						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GCTGATAATCCCTGTGGAAAG	0.343000													11	367					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19444324	19444324	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:19444324G>T	uc001bbi.3	-	71	10626	c.10622C>A	c.(10621-10623)cCg>cAg	p.P3541Q	UBR4_uc001bbj.1_5'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3541					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TACACAGAACGGTACTTCCGG	0.458000													5	121					0	0	1	0	0
DHRS1	115817	broad.mit.edu	37	14	24761465	24761465	+	Silent	SNP	C	C	A	rs149781043		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:24761465C>A	uc001woj.2	-	5	848	c.579G>T	c.(577-579)ccG>ccT	p.P193P	HP08474_uc021rro.1_Intron|DHRS1_uc010aln.2_Non-coding_Transcript|DHRS1_uc001wok.3_Silent_p.P193P	NM_138452	NP_612461	Q96LJ7	DHRS1_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 1 (DHRS1), transcript variant 2, mRNA.	193						endoplasmic reticulum	binding|oxidoreductase activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		GCACAATCCCCGGCCACAGAG	0.602000													5	133					0	0	1	0	0
CD74	972	broad.mit.edu	37	5	149782827	149782827	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:149782827G>T	uc003lsc.3	-	6	861	c.674C>A	c.(673-675)cCg>cAg	p.P225Q	CD74_uc003lsd.3_Intron|CD74_uc003lse.3_Intron	NM_001025159	NP_001020330	P04233	HG2A_HUMAN	Homo sapiens CD74 molecule, major histocompatibility complex, class II invariant chain (CD74), transcript variant 1, mRNA.	225	Thyroglobulin type-1.				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|lysosome|receptor complex	MHC class II protein binding|beta-amyloid binding|cytokine receptor activity|identical protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATGAACCCGGGTGGACAGC	0.577000			T	ROS1	NSCLC								6	232					0	0	1	0	0
SP7	121340	broad.mit.edu	37	12	53722322	53722322	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:53722322C>A	uc001sct.3	-	1	1011	c.904G>T	c.(904-906)Ggc>Tgc	p.G302C	SP7_uc001scv.3_Missense_Mutation_p.G302C|SP7_uc001scu.3_Missense_Mutation_p.G284C	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						TACACCTTGCCGCAGCCAGGG	0.637000													4	69					0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6213388	6213388	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:6213388C>A	uc002mek.3	-	10	1675	c.1511G>T	c.(1510-1512)cGg>cTg	p.R504L		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	504					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CATCAGCCTCCGGTGTAGCTC	0.706000			T	MLL	AL								5	123					0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90536664	90536664	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:90536664C>A	uc010mqi.3	+	3	1871	c.1842C>A	c.(1840-1842)ccC>ccA	p.P614P	FAM75C1_uc004apq.4_Silent_p.P597P	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		AGGCTTTTCCCGTATCCAACA	0.542000													9	228					0	0	1	0	0
ZUFSP	221302	broad.mit.edu	37	6	116973301	116973301	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:116973301C>A	uc003pxf.2	-	5	1276	c.1016G>T	c.(1015-1017)cGg>cTg	p.R339L	ZUFSP_uc010kef.2_Missense_Mutation_p.R143L	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	Homo sapiens zinc finger with UFM1-specific peptidase domain (ZUFSP), mRNA.	339						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AAGCCACACCCGTCTCACATC	0.383000													4	58					0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172752929	172752929	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:172752929C>A	uc003mco.1	-	1	1546	c.236G>T	c.(235-237)cGg>cTg	p.R79L	STC2_uc003mcn.1_5'UTR	NM_003714	NP_003705	O76061	STC2_HUMAN	Homo sapiens stanniocalcin 2 (STC2), mRNA.	79					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATGTAAGCCCCGAATCTCACA	0.468000													9	357					0	0	1	0	0
SPRED3	399473	broad.mit.edu	37	19	38882639	38882639	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:38882639C>A	uc002oim.3	+	1	235	c.231C>A	c.(229-231)ccC>ccA	p.P77P	SPRED3_uc002oil.1_Silent_p.P77P	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 3 (SPRED3), transcript variant 1, mRNA.	77	WH1.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGTGAATCCCATCTTTCACC	0.547000													7	139					0	0	1	0	0
DPH5	51611	broad.mit.edu	37	1	101479332	101479332	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:101479332C>A	uc001dts.2	-	3	450	c.303G>T	c.(301-303)ctG>ctT	p.L101L	DPH5_uc001dtr.2_Silent_p.L101L|DPH5_uc001dtt.2_Silent_p.L101L|DPH5_uc001dtw.2_Non-coding_Transcript|DPH5_uc001dty.2_Intron|DPH5_uc001dtq.2_Intron|DPH5_uc001dtz.2_Non-coding_Transcript	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN	Homo sapiens DPH5 homolog (S. cerevisiae) (DPH5), transcript variant 2, mRNA.	101					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		AAGGAATTCCCAGCTTTGTTG	0.383000													6	119					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13414690	13414690	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:13414690C>A	uc002mwy.3	-	15	2231	c.1995G>T	c.(1993-1995)acG>acT	p.T665T	CACNA1A_uc010dzc.2_Silent_p.T191T|CACNA1A_uc010xnd.2_Silent_p.T665T|CACNA1A_uc021ups.1_Silent_p.T665T|CACNA1A_uc010xne.2_Silent_p.T665T|CACNA1A_uc010dze.2_Silent_p.T665T|CACNA1A_uc021upt.1_Silent_p.T666T	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	666					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.T666T(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGTCTTCGCCCGTCAGGATCT	0.597000													6	154					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95618172	95618172	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:95618172G>T	uc004asu.1	-	3	305	c.156C>A	c.(154-156)ccC>ccA	p.P52P	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Silent_p.P54P|ZNF484_uc004asv.1_Silent_p.P16P|ZNF484_uc010mrb.1_Silent_p.P16P	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						CTTCTGGTTTGGGAACTTGAC	0.458000													6	121					0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	796443	796443	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:796443G>T	uc010krz.1	+	5	1302	c.1282G>T	c.(1282-1284)Ggg>Tgg	p.G428W	HEATR2_uc003siz.2_Missense_Mutation_p.G296W	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	428							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		AGAGCTCGTCGGGACGTTTGT	0.607000													5	208					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84473064	84473064	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:84473064G>T	uc010chj.3	+	12	1232	c.1143G>T	c.(1141-1143)acG>acT	p.T381T	ATP2C2_uc002fhx.3_Silent_p.T381T|ATP2C2_uc002fhy.3_Silent_p.T398T|ATP2C2_uc002fhz.3_Silent_p.T230T	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	381					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTGACAAGACGGGGACTCTGA	0.502000													6	182					0	0	1	0	0
SPATA9	83890	broad.mit.edu	37	5	95018262	95018262	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:95018262G>T	uc003klj.1	-	1	276	c.120C>A	c.(118-120)ccC>ccA	p.P40P	SPATA9_uc010jbh.1_Non-coding_Transcript|SPATA9_uc003klh.1_Non-coding_Transcript|SPATA9_uc003kli.1_Non-coding_Transcript	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	Homo sapiens spermatogenesis associated 9 (SPATA9), mRNA.	40					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		TTAGGATGGTGGGAAATTCAT	0.308000													6	93					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38119787	38119787	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:38119787C>A	uc003gtb.3	+	16	3294	c.2936C>A	c.(2935-2937)cCg>cAg	p.P979Q	TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Missense_Mutation_p.P766Q|TBC1D1_uc021xnh.1_Missense_Mutation_p.P76Q|TBC1D1_uc021xni.1_Missense_Mutation_p.P76Q|TBC1D1_uc003gtd.3_5'Flank	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	979	Rab-GAP TBC.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCACAGTTCCCGCTGGGATTC	0.527000													5	159					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1093680	1093680	+	Splice_Site	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:1093680G>T	uc001lsx.1	+	32	5515	c.5488_splice	c.e32-1	p.G1830_splice		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1915						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGGAAGCACGGGGCCCCCCA	0.617000													5	127					0	0	1	0	0
PRRX1	5396	broad.mit.edu	37	1	170695536	170695536	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:170695536C>A	uc001ghf.3	+	2	640	c.593C>A	c.(592-594)cCg>cAg	p.P198Q	PRRX1_uc001ghe.3_Missense_Mutation_p.P198Q	NM_022716	NP_073207	P54821	PRRX1_HUMAN	Homo sapiens paired related homeobox 1 (PRRX1), transcript variant pmx-1b, mRNA.	198						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACAGCGTCTCCGTACAGGTGA	0.562000													4	57					0	0	1	0	0
SIX6	4990	broad.mit.edu	37	14	60976230	60976230	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:60976230C>A	uc001xfa.4	+	0	293	c.114C>A	c.(112-114)ccC>ccA	p.P38P		NM_007374	NP_031400	O95475	SIX6_HUMAN	Homo sapiens SIX homeobox 6 (SIX6), mRNA.	38					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GGTCGCTGCCCGTGGCCCCTG	0.637000													4	66					0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62996946	62996946	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:62996946G>T	uc001nwr.1	-	0	179	c.179C>A	c.(178-180)cCt>cAt	p.P60H	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Missense_Mutation_p.P60H	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	60					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GTCATTGTCAGGGATAGTGTC	0.488000													6	101					0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14808096	14808096	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:14808096G>T	uc001mln.3	+	2	1496	c.1143G>T	c.(1141-1143)cgG>cgT	p.R381R	PDE3B_uc010rcr.2_Intron	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	381					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	Golgi apparatus|cytosol|endoplasmic reticulum|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTCTCTACGGAGTATTAGTA	0.438000													7	225					0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118166117	118166117	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:118166117C>A	uc021osq.1	+	0	627	c.627C>A	c.(625-627)acC>acA	p.T209T	FAM46C_uc001ehe.3_Silent_p.T209T	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	209								p.T209T(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		TCCACCCCACCGTGATTGGGG	0.483000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			6	179					0	0	1	0	0
NEDD4L	23327	broad.mit.edu	37	18	55992305	55992305	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr18:55992305C>A	uc002lgy.3	+	8	874	c.591C>A	c.(589-591)ccC>ccA	p.P197P	NEDD4L_uc002lgz.3_Silent_p.P197P|NEDD4L_uc002lgx.3_Silent_p.P197P|NEDD4L_uc010xee.1_Silent_p.P76P|NEDD4L_uc002lhc.2_Silent_p.P189P|NEDD4L_uc002lhd.2_Silent_p.P76P|NEDD4L_uc002lhb.2_Silent_p.P76P|NEDD4L_uc002lhe.2_Silent_p.P189P|NEDD4L_uc002lhf.3_Silent_p.P76P|NEDD4L_uc002lhg.3_Silent_p.P76P|NEDD4L_uc002lhh.2_Silent_p.P76P|NEDD4L_uc010dpm.1_Silent_p.P48P	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	197	WW 1.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	p.P197S(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CTCTGCCTCCCGGGTGGGAAG	0.507000													6	231					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161759	57161759	+	Missense_Mutation	SNP	C	C	T	rs141766544		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:57161759C>T	uc001cyk.4	+	5	786	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	239	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	p.R239C(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						ATATCTCAATCGTTCTGTCGC	0.428000													10	337					0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34310909	34310909	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:34310909G>T	uc003zua.4	-	1	556	c.436C>A	c.(436-438)Cag>Aag	p.Q146K	KIF24_uc010mkb.3_Missense_Mutation_p.Q177K	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	Homo sapiens kinesin family member 24 (KIF24), mRNA.	146					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GTATGGTACTGGGAATCATCT	0.398000													7	225					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173734829	173734829	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:173734829C>A	uc003isv.3	+	6	1614	c.878C>A	c.(877-879)cCc>cAc	p.P293H		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	293						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.I292I(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AAAAGAATCCCCATCCCTCCA	0.557000													6	52					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18074954	18074954	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:18074954G>T	uc021trm.1	+	61	10304	c.10085G>T	c.(10084-10086)cGg>cTg	p.R3362L	MYO15A_uc021trl.1_Missense_Mutation_p.R3360L|MYO15A_uc010vxi.2_Missense_Mutation_p.R626L|MYO15A_uc010vxk.1_Missense_Mutation_p.R55L|MYO15A_uc010vxl.1_Missense_Mutation_p.R351L|MYO15A_uc002gsl.3_Missense_Mutation_p.R369L|MYO15A_uc010vxm.2_Missense_Mutation_p.G186W|MYO15A_uc010cpv.3_Non-coding_Transcript	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	3362	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTACACAGGCGGGAAGTCCAG	0.607000													5	118					0	0	1	0	0
VDR	7421	broad.mit.edu	37	12	48251438	48251438	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:48251438C>A	uc001rql.3	-	4	862	c.461G>T	c.(460-462)cGg>cTg	p.R154L	VDR_uc001rqm.3_Missense_Mutation_p.R104L|VDR_uc001rqn.3_Missense_Mutation_p.R104L|VDR_uc010slq.2_Missense_Mutation_p.R72L	NM_001017536	NP_001017536	P11473	VDR_HUMAN	Homo sapiens vitamin D (1,25- dihydroxyvitamin D3) receptor (VDR), transcript variant 3, mRNA.	104	Hinge.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GATCATCTCCCGCTTCCTCTG	0.602000													4	90					0	0	1	0	0
VEZF1	7716	broad.mit.edu	37	17	56060629	56060629	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:56060629C>A	uc002ivf.1	-	1	302	c.159G>T	c.(157-159)caG>caT	p.Q53H	VEZF1_uc010dcn.1_5'UTR	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	53					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CTGGTGCACCCTGAGGTTTCT	0.473000													8	183					0	0	1	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22865544	22865544	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:22865544C>A	uc003xcp.2	+	7	1889	c.1606C>A	c.(1606-1608)Cac>Aac	p.H536N	RHOBTB2_uc011kzp.1_Missense_Mutation_p.H521N|RHOBTB2_uc003xcq.2_Missense_Mutation_p.H514N|BC043400_uc003xcr.3_Non-coding_Transcript	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	514	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CATCAGCGCCCACAAGCCCCT	0.562000													5	76					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9036052	9036052	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:9036052G>T	uc003brf.1	-	18	3059	c.2383C>A	c.(2383-2385)Cat>Aat	p.H795N	SRGAP3_uc003brg.1_Missense_Mutation_p.H771N	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	795					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		ATGTACTGATGGGGGATGAGT	0.562000			T	RAF1	pilocytic astrocytoma								5	95					0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35477698	35477698	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:35477698C>A	uc003okv.4	-	5	519	c.507G>T	c.(505-507)ctG>ctT	p.L169L	TULP1_uc003okw.4_Silent_p.L116L|TULP1_uc021yyx.1_Silent_p.L169L|TULP1_uc021yyy.1_Silent_p.L169L	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	169					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGGGCTTCCCAGGTCTCCTG	0.567000													5	110					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18976574	18976574	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:18976574C>A	uc002nkg.3	+	21	3532	c.3257C>A	c.(3256-3258)cCg>cAg	p.P1086Q	UPF1_uc002nkf.3_Missense_Mutation_p.P1075Q|UPF1_uc002nkh.3_Missense_Mutation_p.P330Q	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	1086	Gln/Ser-rich.				DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CTCTCCCAGCCGGAGCTGTCC	0.647000													4	86					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	628429	628429	+	Silent	SNP	C	C	A	rs142362312		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:628429C>A	uc002cho.3	+	4	1131	c.993C>A	c.(991-993)ccC>ccA	p.P331P	PIGQ_uc010bqw.3_Silent_p.P331P|PIGQ_uc002chn.3_Silent_p.P331P|PIGQ_uc010uui.2_Silent_p.P345P	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	331	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGGGTGCTCCCGCCGGGCTCA	0.682000													4	51					0	0	1	0	0
LIF	3976	broad.mit.edu	37	22	30639684	30639684	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr22:30639684C>A	uc003agz.2	-	2	677	c.565G>T	c.(565-567)Ggg>Tgg	p.G189W	LIF_uc011aks.1_3'UTR|MGC20647_uc003aha.3_5'Flank	NM_002309	NP_002300	P15018	LIF_HUMAN	Homo sapiens leukemia inhibitory factor (cholinergic differentiation factor) (LIF), mRNA.	189					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			TTATACTTCCCCAGGAGTTGA	0.567000													6	108					0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128626838	128626838	+	Silent	SNP	A	A	G			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:128626838A>G	uc003ifk.2	+	10	1762	c.1659A>G	c.(1657-1659)aaA>aaG	p.K553K	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	553										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TAGCAGCAAAACAAAGAATTG	0.438000													25	127					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11514043	11514043	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:11514043C>A	uc021zzo.1	-	7	2422	c.2170G>T	c.(2170-2172)Ggg>Tgg	p.G724W	THSD7A_uc021zzn.1_Missense_Mutation_p.G724W	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	724	TSP type-1 7.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GAGGCCTCCCCATTCCAAGTC	0.517000										HNSCC(18;0.044)			5	109					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58149009	58149009	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:58149009C>A	uc003djj.2	+	42	7315	c.7150C>A	c.(7150-7152)Cct>Act	p.P2384T	FLNB_uc010hne.2_Missense_Mutation_p.P2415T|FLNB_uc003djk.2_Missense_Mutation_p.P2373T|FLNB_uc010hnf.2_Missense_Mutation_p.P2360T|FLNB_uc003djl.2_Missense_Mutation_p.P2204T|FLNB_uc003djm.2_Missense_Mutation_p.P2191T|BC041347_uc003djn.3_Non-coding_Transcript	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2384	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGCGGGGAACCCTGCCCTGGT	0.587000													5	70					0	0	1	0	0
FAM107A	11170	broad.mit.edu	37	3	58555562	58555562	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:58555562C>A	uc003dko.3	-	2	735	c.119G>T	c.(118-120)cGg>cTg	p.R40L	FAM107A_uc003dkm.3_Missense_Mutation_p.R9L|FAM107A_uc003dkn.3_Missense_Mutation_p.R9L|FAM107A_uc010hnm.3_Missense_Mutation_p.R37L|FAM107A_uc003dkp.1_Missense_Mutation_p.R9L	NM_007177	NP_009108	O95990	F107A_HUMAN	Homo sapiens family with sequence similarity 107, member A (FAM107A), transcript variant 1, mRNA.	9					regulation of cell growth	nucleus	protein binding	p.R9Q(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		AATGTCTGCCCGCTCCCTCTG	0.592000													5	114					0	0	1	0	0
PRR4	11272	broad.mit.edu	37	12	10999752	10999752	+	Silent	SNP	G	G	T	rs78191133		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:10999752G>T	uc001qyz.4	-	2	354	c.315C>A	c.(313-315)ccC>ccA	p.P105P	PRH1_uc001qzb.4_Non-coding_Transcript|TAS2R14_uc021qve.1_Non-coding_Transcript|PRR4_uc001qza.4_Intron	NM_007244	NP_009175	Q16378	PROL4_HUMAN	Homo sapiens proline rich 4 (lacrimal) (PRR4), transcript variant 2, mRNA.	105					visual perception	extracellular space				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						AAGGAAATCGGGGTAGAGAGA	0.542000													8	214					0	0	1	0	0
MFSD2A	84879	broad.mit.edu	37	1	40422864	40422864	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:40422864C>A	uc001cev.3	+	1	380	c.199C>A	c.(199-201)Ctt>Att	p.L67I	MFSD2A_uc010ojb.1_Intron|MFSD2A_uc001ceu.3_Missense_Mutation_p.L67I|MFSD2A_uc010ojc.2_Intron|MFSD2A_uc009vvy.3_Non-coding_Transcript	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.	67					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GGGTTTCTTCCTTCAGATCTA	0.532000													8	217					0	0	1	0	0
CDK19	23097	broad.mit.edu	37	6	110942495	110942495	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:110942495G>T	uc003puh.1	-	11	1262	c.1189C>A	c.(1189-1191)Cca>Aca	p.P397T	CDK19_uc003pui.1_Missense_Mutation_p.P337T|CDK19_uc011eax.1_Missense_Mutation_p.P273T	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.	397	Gln-rich.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TGCTGTGGTGGGGGCGCCTGT	0.652000													7	201					0	0	1	0	0
TFIP11	24144	broad.mit.edu	37	22	26895460	26895460	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr22:26895460G>T	uc003acr.2	-	7	1313	c.939C>A	c.(937-939)ccC>ccA	p.P313P	TFIP11_uc003acs.2_Silent_p.P313P|TFIP11_uc003act.2_Silent_p.P313P	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	313					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GCGCGAAGCCGGGGGCCTTGG	0.607000													5	115					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62294008	62294008	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:62294008C>A	uc001ntl.3	-	4	8181	c.7881G>T	c.(7879-7881)gtG>gtT	p.V2627V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2627					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGAACACCCACATCTGGGG	0.542000													8	354					0	0	1	0	0
TBC1D28	254272	broad.mit.edu	37	17	18539850	18539850	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:18539850G>T	uc002gud.2	-	9	970	c.558C>A	c.(556-558)ccC>ccA	p.P186P		NM_001039397	NP_001034486	Q2M2D7	TBC28_HUMAN	Homo sapiens TBC1 domain family, member 28 (TBC1D28), mRNA.	186	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						ATCGCTGCCCGGGAATACTCA	0.483000													6	185					0	0	1	0	0
RAET1E	135250	broad.mit.edu	37	6	150209736	150209736	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:150209736C>A	uc003qnl.1	-	3	823	c.690G>T	c.(688-690)ctG>ctT	p.L230L	LOC100652739_uc003qni.2_Intron|RAET1E_uc003qnj.3_Intron|RAET1E_uc003qnk.2_Silent_p.L194L|RAET1E_uc010kih.1_Non-coding_Transcript|LOC100652739_uc021zgr.1_5'Flank	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	Homo sapiens retinoic acid early transcript 1E (RAET1E), transcript variant 1, mRNA.	230					antigen processing and presentation|immune response|regulation of immune response	MHC class I protein complex|integral to membrane	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TGAATGCCCCCAGGATGATCC	0.418000													6	84					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28456198	28456198	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:28456198C>A	uc001zbj.3	-	43	7125	c.7019G>T	c.(7018-7020)cGg>cTg	p.R2340L		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2340					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	p.R2340P(2)		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)		CAGGATCTGCCGCAGTTTATC	0.502000													5	133					0	0	1	0	0
FAM53A	152877	broad.mit.edu	37	4	1643112	1643112	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:1643112C>A	uc021xkk.1	-	4	1303	c.1105G>T	c.(1105-1107)Ggg>Tgg	p.G369W	FAM53A_uc010ibw.3_3'UTR|FAM53A_uc021xkl.1_Missense_Mutation_p.G369W	NM_001013622	NP_001167541	Q6NSI3	FA53A_HUMAN	Homo sapiens family with sequence similarity 53, member A (FAM53A), transcript variant 1, mRNA.	369						nucleus		p.S368N(1)		breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CGGGGGTCCCCGCTGCTCCTG	0.692000													4	70					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64601680	64601680	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:64601680C>A	uc003dmg.3	-	19	3012	c.2980G>T	c.(2980-2982)Ggg>Tgg	p.G994W	ADAMTS9_uc011bfo.2_Missense_Mutation_p.G966W|ADAMTS9_uc003dmh.1_Missense_Mutation_p.G823W|ADAMTS9_uc003dmk.1_Missense_Mutation_p.G994W|ADAMTS9_uc011bfp.1_5'UTR	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	994	TSP type-1 3.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S993S(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTACATTCCCCTGAGCATTTT	0.483000													8	304					0	0	1	0	0
CA11	770	broad.mit.edu	37	19	49143086	49143086	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:49143086G>T	uc002pjz.1	-	4	1088	c.526C>A	c.(526-528)Cgc>Agc	p.R176S	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|DBP_uc002pjx.4_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	NM_001217	NP_001208	O75493	CAH11_HUMAN	Homo sapiens carbonic anhydrase XI (CA11), mRNA.	176						extracellular region		p.S175F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		TTGGGGCCGCGGGAGGCAGCG	0.622000													5	95					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51054041	51054041	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:51054041C>A	uc001rwv.3	+	3	522	c.366C>A	c.(364-366)ccC>ccA	p.P122P	DIP2B_uc001rwu.3_Silent_p.P122P|DIP2B_uc009zls.2_Silent_p.P4P	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	122						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGGCTTTGCCCATGCCAACCA	0.448000													5	68					0	0	1	0	0
HIST1H4B	8366	broad.mit.edu	37	6	26027278	26027278	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:26027278C>A	uc003nfr.3	-	0	203	c.203G>T	c.(202-204)cGg>cTg	p.R68L		NM_003544	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4b (HIST1H4B), mRNA.	68					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.R68W(1)		large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CACGGCGTCCCGGATCACGTT	0.562000											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	66					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10207137	10207137	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:10207137C>A	uc021ogc.1	+	19	3421	c.2733C>A	c.(2731-2733)ccC>ccA	p.P911P	UBE4B_uc001aqs.4_Silent_p.P860P|UBE4B_uc001aqr.4_Silent_p.P731P|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Silent_p.P315P	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	860					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TCCTGGACCCCGCATATCCCG	0.493000													7	237					0	0	1	0	0
C21orf59	56683	broad.mit.edu	37	21	33954644	33954644	+	Silent	SNP	G	G	T	rs145810413		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr21:33954644G>T	uc002ypy.2	-	6	1209	c.844C>A	c.(844-846)Cgg>Agg	p.R282R	C21orf59_uc002ypw.4_Silent_p.R76R|C21orf59_uc002ypx.1_Silent_p.R99R|C21orf59_uc002ypz.2_Silent_p.R250R	NM_021254	NP_067077	P57076	CU059_HUMAN	Homo sapiens chromosome 21 open reading frame 59 (C21orf59), transcript variant 1, mRNA.	276						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						ATATGACTCCGGAGTTTTCCA	0.507000													5	136					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157405953	157405953	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:157405953C>A	uc003qqp.3	+	4	2156	c.2156C>A	c.(2155-2157)cCg>cAg	p.P719Q	ARID1B_uc003qqo.3_Missense_Mutation_p.P732Q|ARID1B_uc003qqn.3_Missense_Mutation_p.P719Q|ARID1B_uc003qqq.1_Missense_Mutation_p.P103Q	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	719	Ser-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCAGCATCCCGGGGGGCCCA	0.597000													5	95					0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145416655	145416655	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:145416655C>A	uc001eni.2	+	3	1325	c.1000C>A	c.(1000-1002)Cgt>Agt	p.R334S	HFE2_uc001enk.2_Missense_Mutation_p.R221S|HFE2_uc001enj.2_Missense_Mutation_p.R108S|HFE2_uc001enl.2_Missense_Mutation_p.R108S|HFE2_uc021oux.1_Missense_Mutation_p.R108S	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	334					axon guidance	anchored to membrane		p.R334H(2)|p.N333K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGAGCGCAATCGTCGGGGAGC	0.532000													5	70					0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71150073	71150073	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:71150073C>A	uc001oqk.3	-	6	933	c.683G>T	c.(682-684)cGg>cTg	p.R228L	DHCR7_uc001oql.3_Missense_Mutation_p.R228L	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	228					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CTTCCCGATCCGAGGGTTAAA	0.463000									Smith-Lemli-Opitz syndrome				4	51					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70871832	70871832	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:70871832C>A	uc003pfc.1	+	34	2450	c.2333C>A	c.(2332-2334)cCg>cAg	p.P778Q	COL19A1_uc010kam.2_Missense_Mutation_p.P674Q	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	778	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GCTCCAGGCCCGACTGGACCC	0.408000													5	88					0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92134096	92134096	+	Missense_Mutation	SNP	G	G	T	rs141509344		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:92134096G>T	uc003uly.3	-	11	2117	c.2021C>A	c.(2020-2022)cCg>cAg	p.P674Q	PEX1_uc011khr.2_Missense_Mutation_p.P466Q|PEX1_uc010ley.3_Intron|PEX1_uc011khs.2_Missense_Mutation_p.P352Q|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	674			Missing (in NALD).		microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CTCATGTTCCGGGACAGCAGG	0.532000													4	115					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50595942	50595942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:50595942C>A	uc003tpg.4	-	5	808	c.607G>T	c.(607-609)Gga>Tga	p.G203*	DDC_uc022ade.1_Nonsense_Mutation_p.G125*|DDC_uc003tpf.4_Nonsense_Mutation_p.G203*|DDC_uc022adb.1_Nonsense_Mutation_p.G165*|DDC_uc022adc.1_Intron|DDC_uc022add.1_Intron|DDC_uc022adf.1_Nonsense_Mutation_p.G203*	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	203					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	AATTTCACTCCACCAATTAAC	0.532000													7	134					0	0	1	0	0
NOP56	10528	broad.mit.edu	37	20	2637144	2637144	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr20:2637144C>A	uc002wgh.3	+	8	1237	c.1108C>A	c.(1108-1110)Cga>Aga	p.R370R	NOP56_uc010zpy.2_Non-coding_Transcript|NOP56_uc002wgi.3_Silent_p.R204R	NM_006392	NP_006383	O00567	NOP56_HUMAN	Homo sapiens NOP56 ribonucleoprotein homolog (yeast) (NOP56), transcript variant 1, mRNA.	370	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						CCGCATCTCCCGATACCTGGC	0.547000													5	75					0	0	1	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130425710	130425710	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:130425710C>A	uc003qbt.3	+	18	2052	c.1876C>A	c.(1876-1878)Cct>Act	p.P626T	L3MBTL3_uc003qbu.3_Missense_Mutation_p.P601T	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA.	626					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.P626T(2)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CTCTTCTTCCCCTGAAATCAG	0.348000													7	128					0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6357450	6357450	+	Splice_Site	SNP	C	C	A	rs35344839		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:6357450C>A	uc003wqi.3	+	12	2290	c.2214_splice	c.e12+1	p.P738_splice	ANGPT2_uc003wqj.4_3'UTR|ANGPT2_uc003wqk.4_3'UTR|ANGPT2_uc010lri.3_3'UTR	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	738						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CTGCAGCTCCCGTAAGTCAGA	0.428000													5	114					0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060285	16060285	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:16060285G>T	uc010xov.2	+	0	468	c.468G>T	c.(466-468)atG>atT	p.M156I		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M156I(2)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GCTCAGTCATGGGGATGATGG	0.522000													6	131					0	0	1	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238755	71238755	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:71238755G>T	uc001oqq.1	+	0	443	c.409G>T	c.(409-411)Ggg>Tgg	p.G137W		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	Homo sapiens keratin associated protein 5-7 (KRTAP5-7), mRNA.	137	7 X 4 AA repeats of C-C-X-P.					keratin filament		p.G137W(2)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						ctcaggctgtgggtcatcctg	0.607000													7	226					0	0	1	0	0
TCF25	22980	broad.mit.edu	37	16	89965053	89965053	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:89965053C>A	uc002fpb.2	+	9	1193	c.1111C>A	c.(1111-1113)Ctg>Atg	p.L371M	TCF25_uc002fpc.2_Missense_Mutation_p.L136M	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	Homo sapiens transcription factor 25 (basic helix-loop-helix) (TCF25), mRNA.	371					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CAAGCTCATCCTGAGGTGAGT	0.617000													5	69					0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140056698	140056698	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:140056698C>A	uc003lgv.3	-	8	909	c.827G>T	c.(826-828)gGg>gTg	p.G276V	HARS_uc003lgu.3_Missense_Mutation_p.G207V|HARS_uc011czm.2_Missense_Mutation_p.G236V|HARS_uc003lgw.3_Missense_Mutation_p.G256V|HARS_uc011czn.2_Missense_Mutation_p.G216V|HARS_uc011czo.2_Missense_Mutation_p.G202V|HARS_uc011czp.2_Missense_Mutation_p.G162V|HARS_uc011czq.2_Missense_Mutation_p.G166V	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	276					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CAGGGATACCCCACCTGGGGA	0.532000													9	241					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802628	185802628	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:185802628C>A	uc002uph.3	+	3	3099	c.2505C>A	c.(2503-2505)ccC>ccA	p.P835P		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	835						intracellular	zinc ion binding	p.P835P(2)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAGATTATCCCGTGAAAGACA	0.383000													5	80					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72063271	72063271	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr13:72063271G>T	uc021rkj.1	-	6	2009	c.1586C>A	c.(1585-1587)cCg>cAg	p.P529Q	DACH1_uc021rkk.1_Missense_Mutation_p.P381Q|DACH1_uc021rkl.1_Missense_Mutation_p.P327Q	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	579					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGTAGAAAGCGGGGTCTCATC	0.443000													7	223					0	0	1	0	0
PAEP	5047	broad.mit.edu	37	9	138457675	138457675	+	Splice_Site	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:138457675G>T	uc004cge.1	+	6	616	c.572_splice	c.e6+1		PAEP_uc004cgd.1_Intron|PAEP_uc011mdp.1_Intron|PAEP_uc004cgg.1_Splice_Site|PAEP_uc004cgf.1_Intron	NM_001018049	NP_002562	P09466	PAEP_HUMAN	Homo sapiens progestagen-associated endometrial protein (PAEP), transcript variant 1, mRNA.						multicellular organismal development	extracellular region	binding|transporter activity			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CCTGCCTCCTGGGTAATGTAT	0.612000													8	195					0	0	1	0	0
ZNF410	57862	broad.mit.edu	37	14	74364847	74364847	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:74364847C>A	uc010arz.2	+	5	963	c.513C>A	c.(511-513)tcC>tcA	p.S171S	ZNF410_uc001xoy.2_Non-coding_Transcript|ZNF410_uc010ary.2_Non-coding_Transcript|ZNF410_uc010tuf.2_Non-coding_Transcript|ZNF410_uc010tui.2_Non-coding_Transcript|ZNF410_uc001xpa.2_5'UTR|ZNF410_uc001xoz.2_Silent_p.S154S|ZNF410_uc001xpb.2_Silent_p.S154S|ZNF410_uc010tug.2_5'UTR|ZNF410_uc010tuh.2_Silent_p.S81S|ZNF410_uc010tuj.2_5'UTR	NM_001242924	NP_001229853	Q86VK4	ZN410_HUMAN	Homo sapiens zinc finger protein 410 (ZNF410), transcript variant 1, mRNA.	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		ATTTCCTCTCCAGTGAGAGCA	0.468000													6	141					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185931777	185931777	+	Silent	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:185931777C>T	uc001grq.1	+	11	2185	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	HMCN1_uc001grr.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	652	Ig-like C2-type 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATATGTTTATCGTGGGTTCAC	0.408000													21	95					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97822767	97822767	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:97822767C>A	uc003upd.2	+	10	3283	c.2990C>A	c.(2989-2991)cCg>cAg	p.P997Q		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	997					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTGGAAACCCCGGACTCTCTG	0.592000													7	186					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39881189	39881189	+	Missense_Mutation	SNP	G	G	T	rs138498839		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:39881189G>T	uc001zkh.3	+	10	1854	c.1675G>T	c.(1675-1677)Ggc>Tgc	p.G559C	THBS1_uc010bbi.3_Missense_Mutation_p.G31C	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	559	EGF-like 1.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTGCTTTGCCGGCGTGAAGTG	0.522000													7	255					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60898618	60898618	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr20:60898618G>T	uc002ycq.3	-	44	6025	c.5958C>A	c.(5956-5958)ccC>ccA	p.P1986P	LAMA5_uc021wfw.1_Silent_p.P1986P	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1986	Laminin EGF-like 19.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCCCGTCAGGGGGTCGCAGT	0.687000													4	25					0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25775363	25775363	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:25775363C>A	uc001bkk.3	+	2	489	c.287C>A	c.(286-288)cCc>cAc	p.P96H	TMEM57_uc009vru.3_Missense_Mutation_p.P96H|TMEM57_uc009vrv.3_Intron|TMEM57_uc009vrt.2_Non-coding_Transcript	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	96						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTTCATCCCCATACAGTGG	0.348000													6	95					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8379196	8379196	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:8379196G>T	uc002glm.3	-	42	6046	c.5950C>A	c.(5950-5952)Ctg>Atg	p.L1984M	MYH10_uc002gll.3_Missense_Mutation_p.L1953M|MYH10_uc010cnx.3_Missense_Mutation_p.L1962M	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1953					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GAGAGCTCCAGGGAAGCTCCT	0.582000													7	156					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37566849	37566849	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:37566849G>T	uc002hrv.4	-	16	1837	c.1625C>A	c.(1624-1626)cCg>cAg	p.P542Q	MED1_uc010wee.2_Missense_Mutation_p.P370Q|MED1_uc002hru.2_Missense_Mutation_p.P542Q	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	542	Interaction with ESR1.|Interaction with THRA.|Interaction with VDR.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCTGCTAGCCGGGGGCAGGTT	0.547000										HNSCC(31;0.082)			5	84					0	0	1	0	0
DOLPP1	57171	broad.mit.edu	37	9	131847034	131847034	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:131847034G>T	uc004bxc.3	+	1	192	c.164G>T	c.(163-165)cGg>cTg	p.R55L	DOLPP1_uc004bxd.3_Missense_Mutation_p.R55L|DOLPP1_uc004bxe.3_Non-coding_Transcript	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	Homo sapiens dolichyl pyrophosphate phosphatase 1 (DOLPP1), transcript variant 1, mRNA.	55					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity	p.R55L(2)		endometrium(3)|kidney(2)|lung(7)|skin(1)	13						ATATTTAAGCGGGAGCTGCAC	0.612000													10	252					0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74097368	74097368	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:74097368G>T	uc002jqs.3	-	3	496	c.401C>A	c.(400-402)cCg>cAg	p.P134Q	EXOC7_uc010dgv.2_Missense_Mutation_p.P81Q|EXOC7_uc010wsv.2_Missense_Mutation_p.P93Q|EXOC7_uc010wsw.2_Missense_Mutation_p.P134Q|EXOC7_uc002jqq.3_Missense_Mutation_p.P134Q|EXOC7_uc010wsx.2_Missense_Mutation_p.P134Q|EXOC7_uc002jqr.3_Missense_Mutation_p.P134Q|EXOC7_uc002jqu.2_Missense_Mutation_p.P134Q|EXOC7_uc002jqv.2_Missense_Mutation_p.P134Q	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	134					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GTTGAGTTCCGGGCTGTCTGG	0.542000													5	160					0	0	1	0	0
SERPINE2	5270	broad.mit.edu	37	2	224849668	224849668	+	Splice_Site	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:224849668C>A	uc010zlr.1	-	5	859	c.722_splice	c.e5-1	p.G241_splice	SERPINE2_uc002vnu.2_Splice_Site_p.G229_splice|SERPINE2_uc002vnv.2_Splice_Site_p.G229_splice	NM_001136530	NP_001130000	P07093	GDN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 (SERPINE2), transcript variant 4, mRNA.	229					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTTGTCGACCCTAAAGAAATC	0.493000													5	47					0	0	1	0	0
SST	6750	broad.mit.edu	37	3	187386923	187386923	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:187386923G>T	uc003frn.3	-	1	403	c.281C>A	c.(280-282)cCg>cAg	p.P94Q		NM_001048	NP_001039	P61278	SMS_HUMAN	Homo sapiens somatostatin (SST), mRNA.	94					G-protein coupled receptor protein signaling pathway|digestion|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	TGCCATAGCCGGGTTTGAGTT	0.488000													7	331					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849836	73849836	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:73849836C>A	uc003xzb.3	+	2	2834	c.2246C>A	c.(2245-2247)cCg>cAg	p.P749Q		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	749					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.P749S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTCACTACCCCGCAGCACATC	0.557000													9	205					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101606927	101606927	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:101606927C>A	uc002bwr.3	+	32	6170	c.5851C>A	c.(5851-5853)Cga>Aga	p.R1951R	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1951					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTTAAAAGCCCGAGAGCTGAC	0.592000													6	178					0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249212551	249212551	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:249212551C>A	uc001ifh.3	+	2	1915	c.1768C>A	c.(1768-1770)Cac>Aac	p.H590N	PGBD2_uc001ifg.3_Missense_Mutation_p.H339N|PGBD2_uc009xhd.3_Missense_Mutation_p.H587N|PGBD2_uc021pmh.1_Missense_Mutation_p.H339N	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	590										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CAGGGAGTACCACATCCGGTG	0.478000													7	104					0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66358464	66358464	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:66358464G>T	uc001oiq.4	-	0	2091	c.2023C>A	c.(2023-2025)Cac>Aac	p.H675N	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	675										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AGAATTTTGTGGGGTTCTCCC	0.512000													5	84					0	0	1	0	0
FOLR1	2348	broad.mit.edu	37	11	71903276	71903276	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:71903276G>T	uc001orz.2	+	2	335	c.59G>T	c.(58-60)gGg>gTg	p.G20V	FOLR1_uc001osa.2_Missense_Mutation_p.G20V|FOLR1_uc001osb.2_Missense_Mutation_p.G20V|FOLR1_uc001osd.2_Missense_Mutation_p.G20V	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	20					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						GCTGTAGTAGGGGAGGCTCAG	0.557000													6	104					0	0	1	0	0
ORAI2	80228	broad.mit.edu	37	7	102087269	102087269	+	Silent	SNP	C	C	A	rs146137368		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:102087269C>A	uc010lhz.1	+	3	770	c.535C>A	c.(535-537)Cgg>Agg	p.R179R	ORAI2_uc003uzj.2_Silent_p.R179R|ORAI2_uc003uzk.2_Silent_p.R179R|ORAI2_uc011kks.1_Silent_p.R102R	NM_001126340	NP_116220	Q96SN7	ORAI2_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 2 (ORAI2), transcript variant 1, mRNA.	179						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CGTGGATGCCCGGCGCCAGCC	0.672000													5	94					0	0	1	0	0
PRMT10	90826	broad.mit.edu	37	4	148575592	148575592	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:148575592G>T	uc003ilc.3	-	8	1598	c.1456C>A	c.(1456-1458)Cag>Aag	p.Q486K	PRMT10_uc003ilb.3_Missense_Mutation_p.Q130K|PRMT10_uc003ild.3_Missense_Mutation_p.Q373K	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.	486						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TCTTTATTCTGGGTAAAACTT	0.393000													5	115					0	0	1	0	0
TERF2IP	54386	broad.mit.edu	37	16	75690399	75690399	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:75690399C>A	uc002fet.2	+	2	1236	c.1090C>A	c.(1090-1092)Cga>Aga	p.R364R		NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN	Homo sapiens telomeric repeat binding factor 2, interacting protein (TERF2IP), mRNA.	364					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding	p.R364R(2)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CATTTGGTCCCGACAAGATGA	0.448000													6	164					0	0	1	0	0
NAGA	4668	broad.mit.edu	37	22	42459019	42459019	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr22:42459019C>A	uc003bbw.4	-	6	1314	c.769G>T	c.(769-771)Ggg>Tgg	p.G257W		NM_000262	NP_000253	P17050	NAGAB_HUMAN	Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.	257					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-N-acetylgalactosaminidase activity|alpha-galactosidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CCAAAGTTCCCAATGAGCAGC	0.577000													4	29					0	0	1	0	0
OSGEP	55644	broad.mit.edu	37	14	20920516	20920516	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:20920516C>A	uc001vxf.3	-	1	632	c.207G>T	c.(205-207)caG>caT	p.Q69H	APEX1_uc001vxg.3_5'Flank|APEX1_uc001vxh.3_5'Flank|APEX1_uc001vxi.3_5'Flank|APEX1_uc021rnr.1_5'Flank	NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	Homo sapiens O-sialoglycoprotein endopeptidase (OSGEP), mRNA.	69					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		AGTCGATATCCTGGGAGGTTA	0.498000													8	172					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61310721	61310721	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr18:61310721G>T	uc002ljf.3	-	1	177	c.91C>A	c.(91-93)Cct>Act	p.P31T	SERPINB3_uc002lje.3_Missense_Mutation_p.P31T|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	31					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.P31T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ATGCTGATAGGGGAATAGAAG	0.423000													6	120					0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12022865	12022865	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:12022865C>A	uc001qzz.3	+	4	1245	c.971C>A	c.(970-972)cCg>cAg	p.P324Q	ETV6_uc001raa.1_Missense_Mutation_p.P117Q	NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	324						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TCTGTCTCCCCGCCTGAAGAG	0.587000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								4	108					0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42314040	42314040	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:42314040C>A	uc002orn.1	+	3	656	c.580C>A	c.(580-582)Caa>Aaa	p.Q194K	CEACAM3_uc010eia.1_Intron|CEACAM3_uc002oro.1_Non-coding_Transcript	NM_001815	NP_001806	P40198	CEAM3_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA.	194						integral to membrane		p.Q194R(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						GCAGCAGCCCCAAGCCCTTGC	0.597000													8	253					0	0	1	0	0
CACNG1	786	broad.mit.edu	37	17	65051331	65051331	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:65051331C>A	uc002jfu.3	+	2	542	c.417C>A	c.(415-417)ccC>ccA	p.P139P		NM_000727	NP_000718	Q06432	CCG1_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 1 (CACNG1), mRNA.	139					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R138Q(1)		breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	TGCTGCGACCCGCGTCCATGT	0.642000													4	48					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109794119	109794119	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:109794119G>T	uc001dxa.4	+	0	1479	c.1418G>T	c.(1417-1419)cGg>cTg	p.R473L		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	473	Cadherin 3.				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)		TACACCCTACGGGTGCGAGCA	0.557000													6	236					0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102563708	102563708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:102563708C>A	uc001phd.1	-	8	1281	c.1258G>T	c.(1258-1260)Gga>Tga	p.G420*		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	420	Hemopexin-like 3.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.P419P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		ATACTGATTCCAGGAAAGTGT	0.428000													6	206					0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94381150	94381150	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:94381150G>T	uc001kic.3	+	9	1445	c.1137G>T	c.(1135-1137)acG>acT	p.T379T		NM_004523	NP_004514	P52732	KIF11_HUMAN	Homo sapiens kinesin family member 11 (KIF11), mRNA.	379					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGAGTATACGGAGGAGATAG	0.383000													4	56					0	0	1	0	0
TP53TG5	27296	broad.mit.edu	37	20	44004137	44004137	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr20:44004137C>A	uc002xny.3	-	3	391	c.310G>T	c.(310-312)Ggg>Tgg	p.G104W	SYS1_uc002xnw.2_3'UTR|DBNDD2_uc002xnx.3_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	Homo sapiens TP53 target 5 (TP53TG5), mRNA.	104					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus		p.G104R(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TCGGAGCACCCGATCTCCTGG	0.502000													6	193					0	0	1	0	0
PTOV1	53635	broad.mit.edu	37	19	50360329	50360329	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:50360329C>A	uc002pqf.1	+	5	826	c.656C>A	c.(655-657)cCc>cAc	p.P219H	PTOV1_uc002pqb.4_Missense_Mutation_p.P187H|PTOV1_uc002pqa.3_Non-coding_Transcript|PTOV1_uc002pqd.3_Non-coding_Transcript|PTOV1_uc002pqe.2_Non-coding_Transcript	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	Homo sapiens prostate tumor overexpressed 1 (PTOV1), mRNA.	219	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GGCCTCATCCCCTACGACCAG	0.627000													9	236					0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42827928	42827928	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:42827928C>A	uc002otk.1	+	13	1440	c.1388C>A	c.(1387-1389)cCg>cAg	p.P463Q	MEGF8_uc002otl.4_5'Flank	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	Homo sapiens transmembrane protein 145 (TMEM145), mRNA.	463						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TCCATCCCCCCGCCCGCCACC	0.706000													4	81					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89039278	89039278	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:89039278C>A	uc001xww.3	+	5	1013	c.788C>A	c.(787-789)cCa>cAa	p.P263Q	ZC3H14_uc010twd.2_Missense_Mutation_p.P263Q|ZC3H14_uc010twe.2_Missense_Mutation_p.P263Q|ZC3H14_uc001xwx.3_Missense_Mutation_p.P263Q|ZC3H14_uc010twf.2_Missense_Mutation_p.P108Q|ZC3H14_uc001xwy.3_Missense_Mutation_p.P229Q|ZC3H14_uc010twg.2_Missense_Mutation_p.P108Q|ZC3H14_uc001xxa.3_5'Flank	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	263						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding	p.E262*(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TTGTGTGAACCAGAGGTGCTT	0.398000													5	92					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63486437	63486437	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:63486437C>A	uc001nxq.3	+	2	650	c.463C>A	c.(463-465)Cgt>Agt	p.R155S	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Intron|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Missense_Mutation_p.R136S|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	155					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TCATTGTGACCGTCCTTCTAT	0.433000													4	93					0	0	1	0	0
PPYR1	5540	broad.mit.edu	37	10	47087860	47087860	+	Silent	SNP	G	G	T	rs141814735	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:47087860G>T	uc001jee.3	+	2	1496	c.1077G>T	c.(1075-1077)acG>acT	p.T359T	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.T359T|PPYR1_uc021ppu.1_Silent_p.T359T	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	359					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAGTACATACGGAAGTCTCCA	0.572000													5	118					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64132745	64132745	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:64132745G>T	uc003dmf.3	-	6	2007	c.1421C>A	c.(1420-1422)cCg>cAg	p.P474Q		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	474						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CAGCCTCCCCGGGTAATAGTC	0.527000													5	141					0	0	1	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163191	163191	+	RNA	SNP	C	C	T	rs147223236	by1000genomes	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:163191C>T	uc010lra.3	-	3		c.942G>A			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		AAACATTATTCTTTTATGGTG	0.294000													4	34					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48226509	48226509	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:48226509C>A	uc002eff.1	-	18	2978	c.2628G>T	c.(2626-2628)gtG>gtT	p.V876V	ABCC11_uc002efg.1_Silent_p.V876V|ABCC11_uc002efh.1_Silent_p.V876V|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	876	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AGCAGACCCCCACACAGATGA	0.572000													5	76					0	0	1	0	0
HESX1	8820	broad.mit.edu	37	3	57233913	57233913	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:57233913C>A	uc003din.4	-	0	368	c.34G>T	c.(34-36)Ggg>Tgg	p.G12W		NM_003865	NP_003856	Q9UBX0	HESX1_HUMAN	Homo sapiens HESX homeobox 1 (HESX1), mRNA.	12						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G12W(2)		large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		TTGTTTTCCCCGAGCTGAGCG	0.537000													6	107					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242021733	242021733	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:242021733G>T	uc002wah.1	+	28	4075	c.4075G>T	c.(4075-4077)Gag>Tag	p.E1359*	SNED1_uc002wai.1_Nonsense_Mutation_p.E561*|SNED1_uc002waj.1_Nonsense_Mutation_p.E413*	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	1359					cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GCTGTTCTCCGAGACAAAGGC	0.582000													5	196					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179430511	179430511	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:179430511G>T	uc021vsy.1	-	274	72869	c.72644C>A	c.(72643-72645)cCa>cAa	p.P24215Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P17910Q|TTN_uc021vta.1_Missense_Mutation_p.P17843Q|TTN_uc021vtb.1_Missense_Mutation_p.P17718Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25142	Ig-like 121.						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)			CTTTCCTGGTGGGGAAGGAGG	0.488000													7	258					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29552152	29552152	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:29552152G>T	uc002hgg.3	+	16	2268	c.1885G>T	c.(1885-1887)Ggg>Tgg	p.G629W	NF1_uc002hgh.3_Missense_Mutation_p.G629W|NF1_uc010csn.2_Missense_Mutation_p.G489W|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	629			G -> R (in NF1).		MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.G629fs*5(2)|p.G629R(2)|p.Y628fs*3(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCTTTTTTACGGGGTAGGATG	0.398000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	152					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29126129	29126129	+	Missense_Mutation	SNP	C	C	A	rs146402368	by1000genomes	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr18:29126129C>A	uc002kwu.4	+	14	2968	c.2780C>A	c.(2779-2781)cCa>cAa	p.P927Q	LOC100652770_uc002kwv.4_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	927					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTTCCTGACCCAATGGCTTCT	0.483000													6	159					0	0	1	0	0
ZNF434	54925	broad.mit.edu	37	16	3433283	3433283	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:3433283C>A	uc002cux.4	-	6	1919	c.1660G>T	c.(1660-1662)Ggg>Tgg	p.G554W	ZNF434_uc010uwx.2_Missense_Mutation_p.G266W|ZNF434_uc002cuy.4_Missense_Mutation_p.G266W|ZNF434_uc002cuz.3_Missense_Mutation_p.G343W	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN	Homo sapiens zinc finger protein 434 (ZNF434), mRNA.	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAGCCCTTCCCGCACTCACTG	0.517000													4	58					0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60575644	60575644	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr20:60575644G>T	uc002ybs.3	-	9	2620	c.2620C>A	c.(2620-2622)Ctc>Atc	p.L874I		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	874					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GGCGCTTGGAGGAGGAAGGTT	0.463000													5	85					0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30571827	30571827	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:30571827C>A	uc003nqn.1	-	13	2018	c.1466G>T	c.(1465-1467)cGg>cTg	p.R489L	PPP1R10_uc010jsc.1_Missense_Mutation_p.R143L	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	489	Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding	p.R489L(2)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCCCTTCTCCCGCTCAGCCTG	0.592000													6	214					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122439497	122439497	+	Silent	SNP	C	C	A	rs138943666	by1000genomes	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:122439497C>A	uc009zxk.3	+	20	3489	c.3330C>A	c.(3328-3330)tcC>tcA	p.S1110S		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	1110							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CAACCTGCTCCGTCAAAGGTA	0.507000													4	55					0	0	1	0	0
OR5B21	219968	broad.mit.edu	37	11	58275576	58275576	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:58275576C>A	uc010rki.2	-	0	3	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCTATTCTCCATTGTGGCCA	0.413000													4	39					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38747769	38747769	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:38747769G>T	uc021yzh.1	+	14	2176	c.2067G>T	c.(2065-2067)ctG>ctT	p.L689L	DNAH8_uc003ooe.2_Silent_p.L472L	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCCCTGTCTGGGATTAGAAA	0.343000													5	45					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20255609	20255609	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:20255609C>A	uc003gpr.1	+	0	375	c.171C>A	c.(169-171)acC>acA	p.T57T	SLIT2_uc003gps.1_Silent_p.T57T	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	57					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	p.T57T(2)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCCGCAACACCGAGAGACTGT	0.677000													4	107					0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24648040	24648040	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:24648040C>A	uc001wmr.3	+	14	1545	c.1118C>A	c.(1117-1119)cCa>cAa	p.P373Q	REC8_uc001wms.3_Missense_Mutation_p.P373Q	NM_005132	NP_005123	O95072	REC8_HUMAN	Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA.	374	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CAGCCACCCCCAAAAGCCCTC	0.582000													8	358					0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116955208	116955208	+	Missense_Mutation	SNP	G	G	T	rs149362965		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:116955208G>T	uc003viz.3	-	2	805	c.505C>A	c.(505-507)Cgc>Agc	p.R169S	WNT2_uc003vja.3_Missense_Mutation_p.R73S	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	169					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	p.R169C(2)|p.R169R(1)|p.R169H(1)|p.A168V(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACAAATGCGCGGGCAAATTTG	0.478000													6	160					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39311238	39311238	+	Splice_Site	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:39311238C>T	uc003jlv.4	-	7	1200	c.1111_splice	c.e7+1	p.G371_splice		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	371	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCTAGGCATACCTTTCCGCTT	0.368000													17	45					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66972095	66972095	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:66972095G>T	uc002jhu.3	-	38	4979	c.4836C>A	c.(4834-4836)ccC>ccA	p.P1612P	ABCA9_uc010dez.3_Silent_p.P1574P	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1612					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ACTTCACCGAGGGATCAAAGT	0.413000													5	41					0	0	1	0	0
IGFBP5	3488	broad.mit.edu	37	2	217541551	217541551	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:217541551C>A	uc002vgj.4	-	3	1516	c.742G>T	c.(742-744)Ggg>Tgg	p.G248W		NM_000599	NP_000590	P24593	IBP5_HUMAN	Homo sapiens insulin-like growth factor binding protein 5 (IGFBP5), mRNA.	248	Thyroglobulin type-1.				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTTCATCCCGTACTTGTCC	0.617000													7	168					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177030392	177030392	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:177030392C>A	uc001glc.3	-	1	505	c.293G>T	c.(292-294)gGg>gTg	p.G98V	ASTN1_uc001glb.1_Missense_Mutation_p.G98V|ASTN1_uc001gld.1_Missense_Mutation_p.G98V|ASTN1_uc009wwx.1_Missense_Mutation_p.G98V	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	98					cell migration|neuron cell-cell adhesion	integral to membrane		p.G98R(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTCTGTGTTCCCTGAGATCTC	0.483000													6	126					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561341	9561341	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr20:9561341C>A	uc002wnl.2	-	4	986	c.441G>T	c.(439-441)agG>agT	p.R147S	PAK7_uc002wnk.2_Missense_Mutation_p.R147S|PAK7_uc002wnj.2_Missense_Mutation_p.R147S|PAK7_uc010gby.1_Missense_Mutation_p.R147S	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	147	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GACTCTTCTCCCTGTACTTTT	0.517000													7	232					0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205132935	205132935	+	Silent	SNP	G	G	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:205132935G>A	uc001hbw.3	-	3	1537	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	DSTYK_uc001hbx.3_Silent_p.F491F|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	491						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GGGTTCCGACGAAGCTTTCCC	0.473000													12	52					0	0	1	0	0
ITGB1BP3	27231	broad.mit.edu	37	19	3941099	3941099	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:3941099C>A	uc010xia.2	+	5	655	c.441C>A	c.(439-441)ccC>ccA	p.P147P	ITGB1BP3_uc002lyz.4_Silent_p.P142P	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN	Homo sapiens integrin beta 1 binding protein 3 (ITGB1BP3), mRNA.	142					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity	p.P142P(1)		central_nervous_system(1)|large_intestine(3)|lung(4)|skin(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGATCCCCCCGGCCTCTTCG	0.587000													8	199					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183059415	183059415	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:183059415C>A	uc003fli.1	-	3	369	c.279G>T	c.(277-279)gtG>gtT	p.V93V	MCF2L2_uc003flj.1_Silent_p.V93V|MCF2L2_uc003flp.1_Silent_p.V128V	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	93	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGGCAGCCTCCACACTGCAAA	0.483000													4	39					0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39543647	39543647	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:39543647C>A	uc001wup.1	-	8	1298	c.1075G>T	c.(1075-1077)Gag>Tag	p.E359*	SEC23A_uc010tqa.1_Nonsense_Mutation_p.E221*|SEC23A_uc010tqb.1_Nonsense_Mutation_p.E330*|SEC23A_uc010tqc.1_Nonsense_Mutation_p.E221*	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.	359					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CATTTCATCTCCAGGAGACCT	0.343000													7	185					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88707141	88707141	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:88707141C>A	uc001xwm.3	-	2	548	c.426G>T	c.(424-426)gcG>gcT	p.A142A	KCNK10_uc001xwn.3_Silent_p.A142A|KCNK10_uc001xwo.3_Silent_p.A137A	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	137					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GACTGACTCCCGCATTGTCAG	0.408000													6	79					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109926398	109926398	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:109926398C>A	uc001top.3	+	6	1072	c.469C>A	c.(469-471)Cga>Aga	p.R157R	UBE3B_uc001toq.3_Silent_p.R157R|UBE3B_uc001tom.3_Silent_p.R157R|UBE3B_uc001ton.3_Silent_p.R157R|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Silent_p.R157R|UBE3B_uc001tor.3_Silent_p.R157R	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	157					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	p.R157R(2)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GCAGGACTCCCGACTCATCAC	0.458000													8	412					0	0	1	0	0
RHBDL2	54933	broad.mit.edu	37	1	39384676	39384676	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:39384676G>T	uc010oio.1	-	1	453	c.449C>A	c.(448-450)cCg>cAg	p.P150Q	RHBDL2_uc010oin.1_Missense_Mutation_p.P70Q|RHBDL2_uc001ccu.1_Missense_Mutation_p.P70Q|RHBDL2_uc001ccv.3_Missense_Mutation_p.P70Q	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	Homo sapiens rhomboid, veinlet-like 2 (Drosophila) (RHBDL2), mRNA.	70					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CACGGGAGGCGGGAAGCAGTT	0.557000													6	127					0	0	1	0	0
TAAR8	83551	broad.mit.edu	37	6	132874314	132874314	+	Silent	SNP	G	G	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:132874314G>A	uc011ecj.2	+	0	483	c.483G>A	c.(481-483)acG>acA	p.T161T		NM_053278	NP_444508	Q969N4	TAAR8_HUMAN	Homo sapiens trace amine associated receptor 8 (TAAR8), mRNA.	161						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TGCCTCTCACGTACAGCGGTG	0.488000													10	341					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176297505	176297505	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:176297505C>A	uc003mey.3	+	5	1048	c.856C>A	c.(856-858)Cgc>Agc	p.R286S	UNC5A_uc003mex.1_Missense_Mutation_p.R286S|UNC5A_uc010jkg.1_Missense_Mutation_p.R246S	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	286	TSP type-1.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGGACACCCGCAACTGTAC	0.647000													4	69					0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122684847	122684847	+	Silent	SNP	G	G	T	rs150153906	by1000genomes	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:122684847G>T	uc009zxm.3	+	7	1486	c.1461G>T	c.(1459-1461)gcG>gcT	p.A487A	LRRC43_uc001ubw.4_Silent_p.A302A|LRRC43_uc009zxn.3_Silent_p.A248A	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	487										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TCCTGCTGGCGGGGACCACCG	0.637000													4	75					0	0	1	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38345151	38345151	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:38345151G>T	uc010cwu.1	+	4	739	c.249G>T	c.(247-249)caG>caT	p.Q83H	RAPGEFL1_uc010wfd.1_Missense_Mutation_p.Q19H	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA.	289	Gly-rich.				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CCAGCAAGCAGGTGAAGCCAC	0.612000													5	83					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153073955	153073955	+	Silent	SNP	G	G	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:153073955G>A	uc004fja.1	-	1	406	c.156C>T	c.(154-156)cgC>cgT	p.R52R	PDZD4_uc004fiy.1_5'UTR|PDZD4_uc004fiz.1_Silent_p.R52R|PDZD4_uc004fix.2_5'UTR|PDZD4_uc011mze.1_Intron	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	52						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGGGGGCTGCGTCTCAGCA	0.642000													5	7					0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	367127	367127	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:367127C>A	uc002lol.3	-	6	894	c.851G>T	c.(850-852)tGg>tTg	p.W284L	THEG_uc002lom.3_Missense_Mutation_p.W260L	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	284					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGGGGTCCCACTCTTCCAA	0.592000													7	166					0	0	1	0	0
SLMAP	7871	broad.mit.edu	37	3	57857386	57857386	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:57857386G>T	uc003dje.1	+	11	1415	c.1210G>T	c.(1210-1212)Ggg>Tgg	p.G404W	SLMAP_uc003djc.1_Intron|SLMAP_uc003djd.1_Missense_Mutation_p.G387W|SLMAP_uc003djf.1_Intron|SLMAP_uc003djg.1_Intron	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	Homo sapiens sarcolemma associated protein (SLMAP), mRNA.	404					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	p.G387W(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AAAGAGTGGCGGGGACTGCAC	0.363000													5	93					0	0	1	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149783602	149783602	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:149783602G>T	uc010pbk.2	-	0	327	c.277C>A	c.(277-279)Cgc>Agc	p.R93S	HIST2H2BF_uc010pbj.2_Missense_Mutation_p.R93S|HIST2H2BF_uc001esr.3_Missense_Mutation_p.R93S	NM_001024599	NP_001019770	Q5QNW6	H2B2F_HUMAN	Homo sapiens histone cluster 2, H2bf (HIST2H2BF), transcript variant 1, mRNA.	93					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					TGGATCTCGCGGGATGTGATG	0.647000													6	68					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7293961	7293961	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:7293961C>A	uc001qss.3	+	7	2021	c.1483C>A	c.(1483-1485)Cga>Aga	p.R495R	CLSTN3_uc001qsr.3_Silent_p.R483R	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	483					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CCACCCACCCCGAAGGGAGCC	0.572000											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	240					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137722057	137722057	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:137722057G>T	uc003lcy.1	+	6	1327	c.1127G>T	c.(1126-1128)gGg>gTg	p.G376V	KDM3B_uc010jew.1_Missense_Mutation_p.G32V|KDM3B_uc011cys.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	376					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CCTGTAGGTGGGGACACACCT	0.522000													11	285					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51837907	51837907	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:51837907C>A	uc010ufy.2	-	7	1028	c.803G>T	c.(802-804)tGg>tTg	p.W268L	DMXL2_uc002abf.3_Missense_Mutation_p.W268L|DMXL2_uc010bfa.3_Missense_Mutation_p.W268L	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	268						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)		AGTTTCTGCCCAGAGCCGGCA	0.418000													7	198					0	0	1	0	0
QARS	5859	broad.mit.edu	37	3	49136858	49136858	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:49136858C>A	uc003cvx.3	-	16	1538	c.1533G>T	c.(1531-1533)tgG>tgT	p.W511C	QARS_uc011bcc.2_5'Flank|QARS_uc011bcd.2_Missense_Mutation_p.W366C|QARS_uc003cvy.3_Missense_Mutation_p.W366C|QARS_uc011bce.2_Missense_Mutation_p.W500C	NM_005051	NP_005042	P47897	SYQ_HUMAN	Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	511					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GTGGGTCATCCCAGTCCCTGT	0.577000													6	94					0	0	1	0	0
DEF6	50619	broad.mit.edu	37	6	35277494	35277494	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:35277494C>A	uc003okk.3	+	1	183	c.144C>A	c.(142-144)ccC>ccA	p.P48P	DEF6_uc010jvs.3_Silent_p.P48P|DEF6_uc010jvt.3_5'UTR	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	48						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						CCCATGACCCCGTGGCCCTGG	0.577000													4	64					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151130591	151130591	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:151130591C>A	uc011eem.1	+	8	1435	c.1347C>A	c.(1345-1347)ccC>ccA	p.P449P	PLEKHG1_uc011eel.1_Silent_p.P430P|PLEKHG1_uc003qny.1_Silent_p.P390P|PLEKHG1_uc003qnz.2_Silent_p.P390P	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	390					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACAAGAATCCCAAGCTGCAGC	0.552000													6	106					0	0	1	0	0
HIST1H4A	8359	broad.mit.edu	37	6	26021990	26021990	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:26021990G>T	uc003nfq.3	+	0	84	c.84G>T	c.(82-84)caG>caT	p.Q28H		NM_003538	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4a (HIST1H4A), mRNA.	28					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|skin(1)	2						ACAACATCCAGGGCATCACCA	0.622000													5	57					0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19700363	19700363	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:19700363G>T	uc022asn.1	+	13	1778	c.1647G>T	c.(1645-1647)tcG>tcT	p.S549S	INTS10_uc003wzj.3_Silent_p.S548S	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	548					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TGTTAGGTTCGGATCTGAAGC	0.373000													4	88					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30727727	30727727	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:30727727C>A	uc002dze.1	+	17	3129	c.2744C>A	c.(2743-2745)cCt>cAt	p.P915H	SRCAP_uc021tgn.1_Missense_Mutation_p.P915H|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P772H	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	915					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.P915H(2)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GTTACCTCCCCTTTCATCACC	0.493000													10	495					0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38209742	38209742	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:38209742C>A	uc002hts.3	-	0	385	c.185G>T	c.(184-186)tGg>tTg	p.W62L	MED24_uc010wet.2_Non-coding_Transcript|MED24_uc002htt.3_Missense_Mutation_p.W37L|MED24_uc002htu.3_Missense_Mutation_p.W37L|MED24_uc010cwn.3_Missense_Mutation_p.W37L|MED24_uc010weu.2_5'UTR|MED24_uc010wev.1_Intron|MED24_uc010wew.1_Intron|MED24_uc010wex.1_5'Flank|MED24_uc010wfa.1_5'Flank|MED24_uc010wfb.1_Missense_Mutation_p.W62L|MED24_uc010wfc.1_5'Flank	NM_014815	NP_055630	O75448	MED24_HUMAN	Homo sapiens mediator complex subunit 24 (MED24), transcript variant 1, mRNA.	37					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.W37L(2)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GAGAATATCCCAGGTGGCTCC	0.463000													8	398					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55532277	55532277	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:55532277C>A	uc002ehz.4	+	10	1997	c.1686C>A	c.(1684-1686)ccC>ccA	p.P562P	MMP2_uc010vhd.2_Silent_p.P486P|MMP2_uc010ccc.3_Silent_p.P512P	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	562	Hemopexin-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGGGACTGCCCCCTGATGTCC	0.557000													6	101					0	0	1	0	0
T	6862	broad.mit.edu	37	6	166580170	166580170	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:166580170G>T	uc003qut.1	-	1	667	c.381C>A	c.(379-381)ccC>ccA	p.P127P	T_uc003quu.1_Silent_p.P127P|T_uc003quv.1_Silent_p.P127P	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	127					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	p.H126Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TGGGCGAGTCGGGGTGGATGT	0.652000									Chordoma, Familial Clustering of				5	98					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182007	57182007	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:57182007G>T	uc003hbk.2	+	7	2730	c.2339G>T	c.(2338-2340)cGg>cTg	p.R780L	KIAA1211_uc010iha.2_Missense_Mutation_p.R773L|KIAA1211_uc011bzz.1_Missense_Mutation_p.R690L|KIAA1211_uc003hbm.1_Missense_Mutation_p.R666L	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	780										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAGATGCACCGGGAGCCCGCA	0.617000													4	61					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133384782	133384782	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:133384782G>T	uc001ukz.1	-	4	1432	c.873C>A	c.(871-873)ccC>ccA	p.P291P	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Silent_p.P291P|GOLGA3_uc001ulb.3_Silent_p.P291P	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	291					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CGTCAGTGTCGGGGGACAGGC	0.587000													6	144					0	0	1	0	0
MSC	9242	broad.mit.edu	37	8	72754961	72754961	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:72754961C>A	uc003xyx.1	-	1	874	c.556G>T	c.(556-558)Gga>Tga	p.G186*	LOC100132891_uc011lff.2_5'Flank|LOC100132891_uc022avt.1_5'Flank|LOC100132891_uc003xyy.3_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	Homo sapiens musculin (MSC), mRNA.	186					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TCCGGTCTTCCCGAGACCACG	0.473000													9	393					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32014003	32014003	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:32014003C>A	uc003nzl.2	-	30	10751	c.10549G>T	c.(10549-10551)Ggg>Tgg	p.G3517W	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3564	Fibronectin type-III 27.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCAAGGAGCCCGTAGAGCAGA	0.627000													4	81					0	0	1	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146080636	146080636	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:146080636C>A	uc011dbv.2	-	3	577	c.314G>T	c.(313-315)cGg>cTg	p.R105L	PPP2R2B_uc010jgm.3_Missense_Mutation_p.R36L|PPP2R2B_uc003loe.3_Missense_Mutation_p.R47L|PPP2R2B_uc003log.4_Missense_Mutation_p.R47L|PPP2R2B_uc003lof.4_Missense_Mutation_p.R47L|PPP2R2B_uc003loi.4_Missense_Mutation_p.R50L|PPP2R2B_uc003loh.4_Missense_Mutation_p.R47L|PPP2R2B_uc003lok.4_Missense_Mutation_p.R36L|PPP2R2B_uc003loj.4_Missense_Mutation_p.R27L|PPP2R2B_uc011dbu.2_Missense_Mutation_p.R53L	NM_181675	NP_858061	Q00005	2ABB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA.	47					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TATTACAACCCGACCCCCCTT	0.443000													10	500					0	0	1	0	0
FAM161B	145483	broad.mit.edu	37	14	74411053	74411053	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:74411053C>A	uc001xpd.2	-	2	1298	c.910G>T	c.(910-912)Ggg>Tgg	p.G304W		NM_152445	NP_689658			Homo sapiens family with sequence similarity 161, member B (FAM161B), mRNA.											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						AGTTTATCCCCAAGGGCTGGC	0.567000													7	253					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51226755	51226755	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:51226755C>A	uc001wyi.3	-	16	2410	c.2219G>T	c.(2218-2220)cGg>cTg	p.R740L	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.R740L|NIN_uc001wyk.3_Missense_Mutation_p.R740L|NIN_uc001wyo.3_Missense_Mutation_p.R740L	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	740					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTCCCTCTCCCGCTCAAAGCT	0.542000			T	PDGFRB	MPD								7	148					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28115941	28115941	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:28115941C>T	uc002dpa.1	-	20	3373	c.2872G>A	c.(2872-2874)Gtg>Atg	p.V958M	XPO6_uc002dpb.1_Missense_Mutation_p.V944M|XPO6_uc010vcp.1_Missense_Mutation_p.V958M	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	958					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CTGGCCAGCACGGTGGACTTG	0.587000													7	60					0	0	1	0	0
ZNF510	22869	broad.mit.edu	37	9	99521411	99521411	+	Silent	SNP	C	C	A	rs149138912		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:99521411C>A	uc004awn.1	-	5	1890	c.1701G>T	c.(1699-1701)acG>acT	p.T567T	ZNF510_uc004awo.1_Silent_p.T567T	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	Homo sapiens zinc finger protein 510 (ZNF510), mRNA.	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T567T(2)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTTTCTCTCCCGTGTGAGTTT	0.413000													5	92					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15614302	15614302	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:15614302G>T	uc001ioc.1	-	24	2545	c.2545C>A	c.(2545-2547)Cgg>Agg	p.R849R	ITGA8_uc010qcb.1_Silent_p.R834R	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	849					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.R849R(2)|p.R849W(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AATTCATCCCGGGCAGAGAAA	0.443000													5	125					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196254844	196254844	+	Silent	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:196254844C>T	uc001gtd.1	-	22	2700	c.2640G>A	c.(2638-2640)ctG>ctA	p.L880L	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Silent_p.L806L|KCNT2_uc001gtf.1_Silent_p.L856L|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Silent_p.L856L|KCNT2_uc001gth.1_Silent_p.L377L	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	880						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.R879*(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGCAAAAGGCAGTCGAAACA	0.373000													15	44					0	0	1	0	0
COG2	22796	broad.mit.edu	37	1	230824182	230824182	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:230824182C>A	uc001htw.3	+	14	1819	c.1668C>A	c.(1666-1668)tcC>tcA	p.S556S	COG2_uc001htx.3_Silent_p.S555S|COG2_uc010pwc.2_Silent_p.S429S	NM_007357	NP_031383	Q14746	COG2_HUMAN	Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA.	556					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TGGAGGACTCCCAGAGCTCTT	0.458000													5	86					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43714100	43714100	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:43714100G>T	uc001zrs.3	-	18	4186	c.4038C>A	c.(4036-4038)ccC>ccA	p.P1346P	TP53BP1_uc010udp.2_Silent_p.P1346P|TP53BP1_uc001zrq.4_Silent_p.P1351P|TP53BP1_uc001zrr.4_Silent_p.P1351P|TP53BP1_uc010udq.1_Silent_p.P1351P	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1346					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CAAAATCTGCGGGTTCTGTCC	0.587000								Other conserved DNA damage response genes					5	57					0	0	1	0	0
DPYSL3	1809	broad.mit.edu	37	5	146773669	146773669	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:146773669C>A	uc003loo.3	-	13	2182	c.1984G>T	c.(1984-1986)Ggg>Tgg	p.G662W	DPYSL3_uc003lon.1_Missense_Mutation_p.G548W	NM_001197294	NP_001184223	Q14195	DPYL3_HUMAN	Homo sapiens dihydropyrimidinase-like 3 (DPYSL3), transcript variant 1, mRNA.	548					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGAACCCCCTCATCCACT	0.537000													6	73					0	0	1	0	0
TRIM45	80263	broad.mit.edu	37	1	117660885	117660885	+	Silent	SNP	G	G	T	rs144145161	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:117660885G>T	uc001egz.2	-	1	1581	c.993C>A	c.(991-993)acC>acA	p.T331T	TRIM45_uc009whe.2_Silent_p.T331T	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	Homo sapiens tripartite motif containing 45 (TRIM45), transcript variant 1, mRNA.	331						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GCAAGTGCTCGGTGAACTCCA	0.547000													5	111					0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40457272	40457272	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:40457272G>T	uc001zkx.4	+	1	266	c.54G>T	c.(52-54)gaG>gaT	p.E18D		NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	18					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGTCCCTGGAGGGAGATGAAT	0.428000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				5	73					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118223625	118223625	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:118223625C>A	uc004era.4	-	10	1568	c.1568G>T	c.(1567-1569)cGg>cTg	p.R523L		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	523										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCCCTGACTCCGAGAAGCATC	0.438000													6	152					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19121008	19121008	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:19121008C>A	uc002nkz.1	-	4	2056	c.2036G>T	c.(2035-2037)cGg>cTg	p.R679L	SUGP2_uc002nkx.2_Missense_Mutation_p.R665L|SUGP2_uc002nla.1_Missense_Mutation_p.R665L|SUGP2_uc002nlb.2_Missense_Mutation_p.R665L|SUGP2_uc010xqk.1_Missense_Mutation_p.R434L	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	665					RNA splicing|mRNA processing	nucleus	RNA binding	p.R665L(1)|p.R679W(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GCGGACAGCCCGGGAGTACAG	0.637000													6	177					0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	40001483	40001483	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:40001483C>A	uc001rmb.2	-	2	1580	c.1154G>T	c.(1153-1155)cGg>cTg	p.R385L		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	385	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GGCTTCTGTCCGTTCACTAAC	0.323000													4	95					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55844565	55844565	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:55844565C>A	uc002eim.3	-	10	1287	c.1179G>T	c.(1177-1179)aaG>aaT	p.K393N	CES1_uc002eil.3_Missense_Mutation_p.K394N|CES1_uc002ein.3_Missense_Mutation_p.K392N	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	393					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GAATCAGTTCCTTAGCAATGC	0.483000													8	196					0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	107092337	107092337	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:107092337G>T	uc010ilv.2	-	22	2515	c.2150C>A	c.(2149-2151)cCa>cAa	p.P717Q	TBCK_uc003hyb.2_Missense_Mutation_p.P460Q|TBCK_uc003hye.2_Missense_Mutation_p.P678Q|TBCK_uc003hyc.2_Missense_Mutation_p.P654Q|TBCK_uc003hyd.2_Missense_Mutation_p.P545Q|TBCK_uc003hyf.2_Missense_Mutation_p.P717Q	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	717						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						AGATGGCTTTGGAGGTTGAGC	0.443000													6	128					0	0	1	0	0
EPM2A	7957	broad.mit.edu	37	6	145948584	145948584	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:145948584C>A	uc003qkw.3	-	3	1321	c.964G>T	c.(964-966)Ggg>Tgg	p.G322W	EPM2A_uc003qkv.3_Intron|EPM2A_uc010khr.3_3'UTR|EPM2A_uc003qkx.3_Missense_Mutation_p.G184W|EPM2A_uc003qku.3_Missense_Mutation_p.G168W	NM_005670	NP_005661	O95278	EPM2A_HUMAN	Homo sapiens epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) (EPM2A), transcript variant 1, mRNA.	322					glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G322E(1)		kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		CGAACCTTCCCAAATTTCTGG	0.522000													6	164					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33592790	33592790	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:33592790C>A	uc021wvc.1	-	29	3342	c.3131G>T	c.(3130-3132)cGg>cTg	p.R1044L	CLASP2_uc003cfs.3_Missense_Mutation_p.R243L|CLASP2_uc021wva.1_Missense_Mutation_p.R118L|CLASP2_uc021wvb.1_Missense_Mutation_p.R823L|CLASP2_uc011axt.1_Missense_Mutation_p.R636L	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	1045								p.R1036L(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AGTGATGACCCGAGACACTGC	0.388000													4	112					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130332066	130332066	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:130332066C>A	uc010scd.2	+	2	1175	c.1175C>A	c.(1174-1176)cCg>cAg	p.P392Q		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	392	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		ATGATGTCCCCGACCCTCATC	0.597000													4	91					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67327680	67327680	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:67327680G>T	uc002esu.2	-	11	2036	c.1985C>A	c.(1984-1986)cCc>cAc	p.P662H	KCTD19_uc002est.2_Missense_Mutation_p.P434H|KCTD19_uc010vjj.1_Missense_Mutation_p.P405H	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	662						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTCCTCCAAGGGGCTGCTCCG	0.592000													7	144					0	0	1	0	0
STBD1	8987	broad.mit.edu	37	4	77231073	77231073	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:77231073C>A	uc003hka.3	+	1	1741	c.997C>A	c.(997-999)Cgc>Agc	p.R333S	FAM47E_uc003hjy.3_3'UTR|FAM47E_uc011cbv.2_3'UTR|STBD1_uc011cbw.2_Missense_Mutation_p.R184S	NM_003943	NP_003934	O95210	STBD1_HUMAN	Homo sapiens starch binding domain 1 (STBD1), mRNA.	333	CBM20.				carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding	p.R333H(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	13			Lung(101;0.196)			GGGAGTTACCCGCTGGGAAGA	0.473000													6	118					0	0	1	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568370	140568370	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:140568370C>A	uc003liw.1	+	1	1476	c.1476C>A	c.(1474-1476)ccC>ccA	p.P492P		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	493	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGCCGCCCCAGGACCCAC	0.657000													8	282					0	0	1	0	0
C14orf135	64430	broad.mit.edu	37	14	60591308	60591308	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:60591308C>A	uc001xer.4	+	7	2239	c.1717C>A	c.(1717-1719)Cca>Aca	p.P573T	C14orf135_uc001xeq.2_Missense_Mutation_p.P573T|C14orf135_uc010apm.3_Non-coding_Transcript	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	807						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		TCCCAAATCCCCAGAAGACAT	0.363000													7	273					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7700502	7700502	+	Missense_Mutation	SNP	G	G	T	rs147908045	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:7700502G>T	uc002giu.1	+	49	7886	c.7872G>T	c.(7870-7872)caG>caT	p.Q2624H		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2624	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGTGTTCCAGGGCATGCTTA	0.478000													7	149					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323562	152323562	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:152323562G>T	uc001ezw.4	-	2	6773	c.6700C>A	c.(6700-6702)Cac>Aac	p.H2234N	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2234							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAACCATAGTGGGCATGTCTA	0.537000													10	430					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9781219	9781219	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:9781219C>A	uc003bse.3	+	2	1535	c.1136C>A	c.(1135-1137)cCa>cAa	p.P379Q	BRPF1_uc003bsf.3_Missense_Mutation_p.P379Q|BRPF1_uc003bsg.3_Missense_Mutation_p.P379Q|BRPF1_uc011ati.2_Missense_Mutation_p.P379Q	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	379					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CACATCCCACCAGCTCGCTGG	0.572000													6	168					0	0	1	0	0
EIF4H	7458	broad.mit.edu	37	7	73609077	73609077	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:73609077G>T	uc003uad.1	+	5	484	c.476G>T	c.(475-477)aGg>aTg	p.R159M	EIF4H_uc003uae.1_Missense_Mutation_p.R139M	NM_022170	NP_071496	Q15056	IF4H_HUMAN	Homo sapiens eukaryotic translation initiation factor 4H (EIF4H), transcript variant 1, mRNA.	159					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						TCAGGCTTCAGGGATGACTTC	0.527000													7	169					0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	40997529	40997529	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:40997529C>A	uc002ibu.3	+	0	921	c.886C>A	c.(886-888)Ctg>Atg	p.L296M	AOC2_uc002ibt.3_Missense_Mutation_p.L296M	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	296					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGCTTCATCCCTGAGGTCTCG	0.557000													6	105					0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18154277	18154277	+	Missense_Mutation	SNP	C	C	A	rs148398523		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:18154277C>A	uc002gsr.1	-	13	1702	c.1651G>T	c.(1651-1653)Ggg>Tgg	p.G551W	FLII_uc002gsq.1_Missense_Mutation_p.G422W|FLII_uc010vxn.1_Missense_Mutation_p.G520W|FLII_uc010vxo.1_Missense_Mutation_p.G496W|FLII_uc002gss.1_Missense_Mutation_p.G550W	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	551	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GTGGCCTCCCCGCCAATCCAG	0.587000													4	34					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43406447	43406447	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:43406447C>A	uc003ouy.1	+	7	2256	c.2041C>A	c.(2041-2043)Cga>Aga	p.R681R	ABCC10_uc003ouz.1_Silent_p.R653R|ABCC10_uc010jyo.1_5'UTR	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	681	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGCCACCATCCGAGACAACAT	0.597000													5	108					0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154042043	154042043	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:154042043C>A	uc003ezy.4	-	0	244	c.163G>T	c.(163-165)Ggg>Tgg	p.G55W	DHX36_uc010hvq.3_Missense_Mutation_p.G55W|DHX36_uc003ezz.4_Missense_Mutation_p.G55W	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	55	Gly-rich.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTCAGGTGCCCGGGATGCCGG	0.647000													6	124					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227659834	227659834	+	Silent	SNP	A	A	G	rs71889337		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:227659834A>G	uc021vxn.1	-	0	3621	c.3621T>C	c.(3619-3621)ccT>ccC	p.P1207P	IRS1_uc002voh.4_Silent_p.P1207P	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	1207	Pro-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGTTGATGAGGGGGTGGGG	0.582000													6	74					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61523975	61523975	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:61523975G>T	uc002sbe.3	-	29	4236	c.4214C>A	c.(4213-4215)cCt>cAt	p.P1405H		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	1405					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAACATATTAGGACATGTAGG	0.418000													7	243					0	0	1	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45731514	45731514	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:45731514C>A	uc002pay.1	-	2	142	c.101G>T	c.(100-102)cGg>cTg	p.R34L		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.	34										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		AAGGGCAGCCCGGGTCTGAGC	0.617000													4	95					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24373082	24373082	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:24373082C>A	uc002dmf.3	+	3	2048	c.846C>A	c.(844-846)tcC>tcA	p.S282S		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	282					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.S282S(2)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TCCTCAACTCCGACCGGGACC	0.552000													5	132					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121471534	121471534	+	Missense_Mutation	SNP	C	C	A	rs146484691		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:121471534C>A	uc001tzj.1	-	1	217	c.211G>T	c.(211-213)Ggg>Tgg	p.G71W	OASL_uc001tzk.1_Missense_Mutation_p.G71W	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	71					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTGCCATTCCCGAAGGAGCCC	0.592000													4	111					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279789	46279789	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr20:46279789C>A	uc002xtk.3	+	19	3976	c.3715C>A	c.(3715-3717)Cga>Aga	p.R1239R	NCOA3_uc002xtl.3_Silent_p.R1235R|NCOA3_uc002xtn.3_Silent_p.R1238R|NCOA3_uc010ght.2_Silent_p.R1230R|NCOA3_uc002xtm.3_Silent_p.R1234R|NCOA3_uc010zyc.2_Silent_p.R1034R	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	1239	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCATCACTTCCGACAACAGAG	0.498000													4	107					0	0	1	0	0
TAAR8	83551	broad.mit.edu	37	6	132874239	132874239	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:132874239C>A	uc011ecj.2	+	0	408	c.408C>A	c.(406-408)ccC>ccA	p.P136P		NM_053278	NP_444508	Q969N4	TAAR8_HUMAN	Homo sapiens trace amine associated receptor 8 (TAAR8), mRNA.	136						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TTACTGATCCCCTGGTCTATG	0.488000													10	392					0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11942943	11942943	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:11942943G>T	uc002msp.1	+	3	1108	c.952G>T	c.(952-954)Ggg>Tgg	p.G318W	ZNF440_uc021upk.1_5'Flank	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	Homo sapiens zinc finger protein 440 (ZNF440), mRNA.	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TAAGCAGTGTGGGAAAGCATT	0.383000													5	75					0	0	1	0	0
B3GNT1	11041	broad.mit.edu	37	11	66114268	66114268	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:66114268C>A	uc001ohr.3	-	0	894	c.749G>T	c.(748-750)tGg>tTg	p.W250L	BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank|TRNA_Ser_uc021qlw.1_5'Flank	NM_006876	NP_006867	O43505	B3GN1_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1), mRNA.	250					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						GGTGCCTCCCCACTGGTTGCT	0.627000													7	157					0	0	1	0	0
KAT5	10524	broad.mit.edu	37	11	65484372	65484372	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:65484372A>G	uc001ofi.3	+	10	1350	c.1084A>G	c.(1084-1086)Acg>Gcg	p.T362A	KAT5_uc001ofj.3_Missense_Mutation_p.T310A|KAT5_uc001ofk.3_Missense_Mutation_p.T395A|KAT5_uc010roo.2_Missense_Mutation_p.T343A|KAT5_uc001ofl.3_Missense_Mutation_p.T151A	NM_006388	NP_006379	Q92993	KAT5_HUMAN	Homo sapiens K(lysine) acetyltransferase 5 (KAT5), transcript variant 2, mRNA.	362					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|androgen receptor signaling pathway|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GAAAGAATCAACGGAAGACTA	0.592000													22	104					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86266456	86266456	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:86266456C>A	uc002sqs.3	-	25	4249	c.3870G>T	c.(3868-3870)ttG>ttT	p.L1290F	POLR1A_uc010ytb.2_Missense_Mutation_p.L656F|POLR1A_uc002sqt.1_Missense_Mutation_p.L313F	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	1290					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTACCTCCCCCAAGCACACCC	0.532000													7	242					0	0	1	0	0
NCEH1	57552	broad.mit.edu	37	3	172353824	172353824	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:172353824C>A	uc011bpx.2	-	3	749	c.611G>T	c.(610-612)cGg>cTg	p.R204L	NCEH1_uc003fig.3_Missense_Mutation_p.R196L|NCEH1_uc011bpw.2_Missense_Mutation_p.R31L|NCEH1_uc011bpy.2_Missense_Mutation_p.R31L	NM_001146276	NP_001139750	Q6PIU2	NCEH1_HUMAN	Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA.	164					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						CTTTGTGGCCCGTACAACATC	0.398000													5	143					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136307563	136307563	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:136307563C>A	uc004cdv.4	+	16	2456	c.2012C>A	c.(2011-2013)cCa>cAa	p.P671Q	ADAMTS13_uc004cdp.4_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.P671Q|ADAMTS13_uc004cdu.1_Missense_Mutation_p.P640Q|ADAMTS13_uc004cdw.4_Missense_Mutation_p.P671Q|ADAMTS13_uc004cdx.4_Missense_Mutation_p.P640Q|ADAMTS13_uc004cdy.1_Intron|ADAMTS13_uc004cdz.4_Missense_Mutation_p.P341Q|ADAMTS13_uc004cdr.1_Intron|ADAMTS13_uc004cds.1_Missense_Mutation_p.P196Q	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	671	Spacer.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	p.R670H(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCACCCGCCCAGACATCACC	0.622000													6	107					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99695318	99695318	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:99695318C>A	uc003usw.1	-	8	1546	c.1036G>T	c.(1036-1038)Ggg>Tgg	p.G346W	MCM7_uc003usv.1_Missense_Mutation_p.G170W|MCM7_uc003usx.1_Missense_Mutation_p.G170W	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	346	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TCTTCATGCCCGTATATTTCT	0.498000													5	227					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37565755	37565755	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:37565755C>A	uc002hrv.4	-	16	2931	c.2719G>T	c.(2719-2721)Ggg>Tgg	p.G907W	MED1_uc010wee.2_Missense_Mutation_p.G735W|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	907	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ATTGGCACCCCCAAAGTATTT	0.428000										HNSCC(31;0.082)			8	230					0	0	1	0	0
EDA	1896	broad.mit.edu	37	X	68836237	68836237	+	Missense_Mutation	SNP	G	G	T	rs41539891		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:68836237G>T	uc004dxs.3	+	0	327	c.85G>T	c.(85-87)Ggg>Tgg	p.G29W	EDA_uc011mpj.2_Missense_Mutation_p.G29W|EDA_uc004dxr.3_Missense_Mutation_p.G29W|EDA_uc004dxm.1_Missense_Mutation_p.G29W|EDA_uc004dxn.1_Missense_Mutation_p.G29W|EDA_uc004dxp.1_Missense_Mutation_p.G29W|EDA_uc004dxq.1_Missense_Mutation_p.G29W	NM_001399	NP_001390	Q92838	EDA_HUMAN	Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.	29					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CGGGTGTGGCGGGGCCCCTGC	0.706000													3	15					0	0	1	0	0
THYN1	29087	broad.mit.edu	37	11	134119785	134119785	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:134119785C>A	uc001qhf.3	-	4	423	c.321G>T	c.(319-321)ctG>ctT	p.L107L	THYN1_uc001qhg.3_Silent_p.L107L|THYN1_uc001qhh.3_Silent_p.L107L|THYN1_uc001qhi.3_Silent_p.L107L|THYN1_uc001qhj.3_Silent_p.L107L|THYN1_uc009zdb.3_Silent_p.L107L	NM_001037305	NP_954995	Q9P016	THYN1_HUMAN	Homo sapiens thymocyte nuclear protein 1 (THYN1), transcript variant 5, mRNA.	107						nucleus		p.L107L(2)		endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		CTTCTTCTCCCAGCTTCATGG	0.488000													6	133					0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77093219	77093219	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:77093219G>T	uc001dhh.2	+	3	869	c.706G>T	c.(706-708)Ggg>Tgg	p.G236W	ST6GALNAC3_uc010orh.1_Intron	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	236					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.G236W(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TCACGTCTACGGGATGATAAA	0.408000													7	253					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65820563	65820563	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:65820563C>A	uc001ogy.1	+	2	286	c.246C>A	c.(244-246)ccC>ccA	p.P82P	SF3B2_uc001ogx.1_Silent_p.P82P	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	82					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding	p.P82P(2)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CTCCACCTCCCATGTCGGCAC	0.488000													6	155					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47809044	47809044	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr18:47809044C>A	uc002leq.4	-	14	2623	c.1890G>T	c.(1888-1890)gcG>gcT	p.A630A	MBD1_uc002leg.3_5'Flank|MBD1_uc010dow.2_5'Flank|MBD1_uc010xdi.2_5'Flank|MBD1_uc010xdj.2_5'Flank|MBD1_uc002lel.4_5'Flank|MBD1_uc002len.3_5'Flank|MBD1_uc002leh.4_5'Flank|MBD1_uc002lei.4_5'Flank|MBD1_uc002lej.4_5'Flank|MBD1_uc002lek.4_5'Flank|MBD1_uc002lem.4_5'Flank|MBD1_uc021ukd.1_5'Flank|MBD1_uc021uke.1_5'Flank|MBD1_uc010xdk.2_5'Flank|MBD1_uc010dox.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.4_Silent_p.A487A|CXXC1_uc002ler.4_Silent_p.A634A|CXXC1_uc010doy.3_3'UTR	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	630					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding	p.A630T(1)|p.A630V(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCAGCAATCCCGCGCGGTTTG	0.642000													4	78					0	0	1	0	0
MRPS2	51116	broad.mit.edu	37	9	138395863	138395863	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:138395863C>A	uc004cfv.4	+	3	849	c.775C>A	c.(775-777)Cgg>Agg	p.R259R	BC015688_uc004cfy.3_Intron	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	Homo sapiens mitochondrial ribosomal protein S2 (MRPS2), nuclear gene encoding mitochondrial protein, mRNA.	259					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		GGCCATCACCCGGGCCAAGGA	0.652000													4	82					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140801033	140801033	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:140801033C>A	uc003lkq.2	+	0	497	c.239C>A	c.(238-240)cCg>cAg	p.P80Q	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Missense_Mutation_p.P80Q|PCDHGC5_uc003lkp.2_Missense_Mutation_p.P80Q	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	79	Cadherin 1.				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)			GCTGTGAATCCGCGAAGCGGC	0.582000													4	105					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52701573	52701573	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr13:52701573C>A	uc001vge.3	-	2	186	c.46G>T	c.(46-48)Ggg>Tgg	p.G16W		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	16	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TATGCTTTCCCGAAGGCACCT	0.378000													6	214					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2373673	2373673	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:2373673C>A	uc002cpy.1	-	6	1176	c.464G>T	c.(463-465)cGg>cTg	p.R155L	ABCA3_uc010bsk.1_Missense_Mutation_p.R155L|ABCA3_uc010bsl.1_Missense_Mutation_p.R155L|ABCA3_uc002cpz.1_Missense_Mutation_p.R155L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	155					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R155L(2)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GTAACTGAACCGTAGGTGATA	0.498000													7	413					0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64054189	64054189	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:64054189C>A	uc010rni.2	+	2	395	c.367C>A	c.(367-369)Ctc>Atc	p.L123I	BAD_uc001nzd.3_5'Flank|BAD_uc001nzc.3_5'Flank|BAD_uc009ypk.2_5'Flank|GPR137_uc010rnj.2_Missense_Mutation_p.L65I|GPR137_uc001nze.2_Missense_Mutation_p.L65I|GPR137_uc001nzf.3_Missense_Mutation_p.L65I|GPR137_uc001nzh.2_Missense_Mutation_p.L65I|GPR137_uc001nzi.3_Missense_Mutation_p.L65I|GPR137_uc021qkt.1_Missense_Mutation_p.L65I	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	65						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GTTCCTGGCCCTCTGTCTGCT	0.607000													8	268					0	0	1	0	0
CYTH3	9265	broad.mit.edu	37	7	6205184	6205184	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:6205184G>T	uc003spt.3	-	10	1068	c.964C>A	c.(964-966)Cgg>Agg	p.R322R	CYTH3_uc011jws.2_Silent_p.R237R	NM_004227	NP_004218	O43739	CYH3_HUMAN	Homo sapiens cytohesin 3 (CYTH3), mRNA.	323	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						ACGGGTTTCCGGGGGTCCTCC	0.617000													5	90					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78674754	78674754	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:78674754C>A	uc001jxn.3	-	23	3133	c.2956G>T	c.(2956-2958)Ggg>Tgg	p.G986W	KCNMA1_uc021ptu.1_Missense_Mutation_p.G878W|KCNMA1_uc001jxj.2_Missense_Mutation_p.G932W|KCNMA1_uc001jxk.1_Missense_Mutation_p.G604W|KCNMA1_uc009xrt.1_Missense_Mutation_p.G777W|KCNMA1_uc001jxl.1_Missense_Mutation_p.G611W|KCNMA1_uc001jxo.3_Missense_Mutation_p.G969W|KCNMA1_uc001jxm.3_Missense_Mutation_p.G928W|KCNMA1_uc001jxq.3_Missense_Mutation_p.G931W	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	986					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.G928W(1)|p.G990W(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CGTAACATCCCGTGCACTGGG	0.483000													8	226					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160193505	160193505	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:160193505C>T	uc002uao.3	-	32	6149	c.5744G>A	c.(5743-5745)tGc>tAc	p.C1915Y	BAZ2B_uc002uap.3_Missense_Mutation_p.C1879Y	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1915					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTGCTGAATGCACAGAGCTAC	0.363000													9	83					0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69833152	69833152	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:69833152C>A	uc002exu.1	+	4	383	c.294C>A	c.(292-294)acC>acA	p.T98T	WWP2_uc002ext.3_Silent_p.T98T|WWP2_uc002exv.1_Silent_p.T98T	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	98	C2.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	p.G97V(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCTAGGCACCGCATCTGTCA	0.478000											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	64					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35487138	35487138	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:35487138C>A	uc002hnm.3	-	45	5766	c.5575G>T	c.(5575-5577)Ggg>Tgg	p.G1859W	ACACA_uc002hnk.3_Missense_Mutation_p.G1781W|ACACA_uc002hnl.3_Missense_Mutation_p.G1801W|ACACA_uc002hnn.3_Missense_Mutation_p.G1859W|ACACA_uc002hno.3_Missense_Mutation_p.G1896W|ACACA_uc010cuy.3_Missense_Mutation_p.G504W|ACACA_uc010wdc.2_5'UTR	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1859	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACTTCCCGCCCGAGGACCTAG	0.468000													5	156					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735745	12735745	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:12735745C>A	uc004cuz.2	+	15	3306	c.2800C>A	c.(2800-2802)Cgc>Agc	p.R934S	FRMPD4_uc011mij.2_Missense_Mutation_p.R926S	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	934					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAACCTCTCCCGCATGTTCTT	0.547000													6	109					0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	66002839	66002839	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:66002839C>A	uc001oha.2	+	17	2306	c.2172C>A	c.(2170-2172)ccC>ccA	p.P724P	PACS1_uc010rou.2_Silent_p.P260P	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	724					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						ACCAGCTTCCCGTGGCCGAAG	0.522000													4	95					0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210796981	210796981	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:210796981G>T	uc010psr.2	+	9	1465	c.1360G>T	c.(1360-1362)Ggg>Tgg	p.G454W	HHAT_uc009xcx.3_Missense_Mutation_p.G453W|HHAT_uc010psq.2_Missense_Mutation_p.G316W|HHAT_uc009xcy.3_Missense_Mutation_p.G388W|HHAT_uc010pss.2_Missense_Mutation_p.G408W|HHAT_uc010pst.2_Missense_Mutation_p.G390W|HHAT_uc001hhz.4_Missense_Mutation_p.G453W|HHAT_uc021pip.1_Missense_Mutation_p.G453W|HHAT_uc010psu.2_Missense_Mutation_p.G388W|HHAT_uc001hia.4_Missense_Mutation_p.G143W	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	453	GTP-binding (Probable).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CAATGAGGTTGGGAAAACCTA	0.488000													8	275					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8138477	8138477	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:8138477G>T	uc002gkq.4	-	7	1392	c.1333C>A	c.(1333-1335)Cgt>Agt	p.R445S	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	445					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	p.R445H(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TAGGCTTGACGGGATGAGTGA	0.637000													5	95					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50611679	50611679	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:50611679G>T	uc003tpg.4	-	1	306	c.105C>A	c.(103-105)ccC>ccA	p.P35P	DDC_uc022ade.1_Silent_p.P35P|DDC_uc003tpf.4_Silent_p.P35P|DDC_uc022adb.1_Silent_p.P35P|DDC_uc022adc.1_Silent_p.P35P|DDC_uc022add.1_Silent_p.P35P|DDC_uc022adf.1_Silent_p.P35P	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	35					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GCAGGTACCCGGGCTCCACGT	0.567000													6	226					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33596124	33596124	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:33596124C>A	uc003jia.1	-	16	2732	c.2569G>T	c.(2569-2571)Ggg>Tgg	p.G857W	ADAMTS12_uc010iuq.1_Missense_Mutation_p.G772W	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	857	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G857W(2)|p.G857V(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTCACCATCCCGCGGCCCTTC	0.517000										HNSCC(64;0.19)			5	120					0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1381939	1381939	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:1381939C>A	uc002fsp.3	-	9	1403	c.1183G>T	c.(1183-1185)Ggg>Tgg	p.G395W	MYO1C_uc002fsn.3_Missense_Mutation_p.G376W|MYO1C_uc002fso.3_Missense_Mutation_p.G360W|MYO1C_uc010vqj.1_Missense_Mutation_p.G360W|MYO1C_uc010vqk.1_Missense_Mutation_p.G371W	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.	395	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)		TTGATCTTCCCGACGAGCCAG	0.677000													4	99					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178425884	178425884	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:178425884C>A	uc001glq.3	+	12	3004	c.2240C>A	c.(2239-2241)cCt>cAt	p.P747H	RASAL2_uc001glr.3_Missense_Mutation_p.P606H|RASAL2_uc009wxc.3_Missense_Mutation_p.P120H	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	606					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GGGCCTCTCCCTCGTGTTCTT	0.448000													8	305					0	0	1	0	0
GMPR	2766	broad.mit.edu	37	6	16290814	16290814	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:16290814C>A	uc003nbs.3	+	7	933	c.819C>A	c.(817-819)acC>acA	p.T273T		NM_006877	NP_006868	P36959	GMPR1_HUMAN	Homo sapiens guanosine monophosphate reductase (GMPR), mRNA.	273					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GCTCTGACACCGCCATGAACA	0.577000													5	132					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19488928	19488928	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:19488928G>T	uc001bbi.3	-	34	4946	c.4942C>A	c.(4942-4944)Cag>Aag	p.Q1648K	UBR4_uc001bbm.1_Missense_Mutation_p.Q859K	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	1648					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCCTCAGCCTGGGAATCTTCC	0.502000													8	174					0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155173033	155173033	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:155173033C>A	uc001fix.3	-	5	842	c.737G>T	c.(736-738)cGg>cTg	p.R246L	THBS3_uc021pat.1_5'Flank|THBS3_uc010pfu.2_Missense_Mutation_p.R126L|THBS3_uc009wqi.3_Missense_Mutation_p.R237L|THBS3_uc001fiy.3_5'UTR|THBS3_uc010pfv.2_Intron|THBS3_uc001fja.2_Non-coding_Transcript	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	246					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TATATCATCCCGCAGCTCCAC	0.597000													4	44					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70091546	70091546	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:70091546A>T	uc001svg.3	-	1	260	c.33T>A	c.(31-33)aaT>aaA	p.N11K	BEST3_uc001svd.2_Missense_Mutation_p.N11K|BEST3_uc010stm.2_Intron|BEST3_uc001svi.1_Intron	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	11						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AAAAAGTTGCATTTGCTACTT	0.353000													28	110					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236792052	236792052	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:236792052C>A	uc002vvs.3	+	9	1712	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M	AGAP1_uc002vvt.3_Missense_Mutation_p.L372M	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	372	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATATGTCACCCTGTGTGACAA	0.443000													6	101					0	0	1	0	0
ENDOG	2021	broad.mit.edu	37	9	131581288	131581288	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:131581288G>T	uc004bwc.3	+	0	510	c.325G>T	c.(325-327)Gac>Tac	p.D109Y		NM_004435	NP_004426	Q14249	NUCG_HUMAN	Homo sapiens endonuclease G (ENDOG), nuclear gene encoding mitochondrial protein, mRNA.	109						mitochondrion	endonuclease activity|metal ion binding|nucleic acid binding										CGGCGACGGCGACCGGCGCGA	0.721000													2	0					0	0	1	0	0
RAET1E	135250	broad.mit.edu	37	6	150211085	150211085	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:150211085C>A	uc003qnl.1	-	1	415	c.282G>T	c.(280-282)ctG>ctT	p.L94L	LOC100652739_uc003qni.2_Intron|RAET1E_uc003qnj.3_Silent_p.L94L|RAET1E_uc003qnk.2_Silent_p.L58L|RAET1E_uc010kih.1_Intron|RAET1E_uc021zgq.1_Silent_p.L94L|LOC100652739_uc021zgr.1_5'Flank	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	Homo sapiens retinoic acid early transcript 1E (RAET1E), transcript variant 1, mRNA.	94	MHC class I alpha-1 like.				antigen processing and presentation|immune response|regulation of immune response	MHC class I protein complex|integral to membrane	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CCACTTCTCCCAGCGTTTGGG	0.532000													5	101					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714787	138714787	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:138714787G>T	uc004cgr.4	-	10	1720	c.1720C>A	c.(1720-1722)Cgg>Agg	p.R574R	CAMSAP1_uc004cgq.4_Silent_p.R464R|CAMSAP1_uc010nbg.3_Silent_p.R296R	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	574						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGGGGAGACCGGGCATTTGCT	0.567000													6	182					0	0	1	0	0
SESN3	143686	broad.mit.edu	37	11	94924702	94924702	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:94924702C>A	uc001pfk.1	-	2	430	c.208G>T	c.(208-210)Ggt>Tgt	p.G70C	SESN3_uc010rug.1_5'UTR|SESN3_uc001pfl.3_Missense_Mutation_p.G70C	NM_144665	NP_653266	P58005	SESN3_HUMAN	Homo sapiens sestrin 3 (SESN3), mRNA.	70					cell cycle arrest	nucleus		p.S69F(1)		endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TCCAGACGACCGGATGTAGAG	0.423000													4	103					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214818	3214818	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr20:3214818C>A	uc010zqe.2	-	4	688	c.563G>T	c.(562-564)aGg>aTg	p.R188M	SLC4A11_uc002wig.3_Missense_Mutation_p.R161M|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Missense_Mutation_p.R145M	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	161					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	p.R161M(1)|p.R188M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GTCAGGGTCCCTGGCGAAGCG	0.637000													5	124					0	0	1	0	0
VPS72	6944	broad.mit.edu	37	1	151156834	151156834	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:151156834C>A	uc001exe.1	-	3	564	c.521G>T	c.(520-522)cGg>cTg	p.R174L	VPS72_uc001exf.1_Missense_Mutation_p.R174L	NM_005997	NP_005988	Q15906	VPS72_HUMAN	Homo sapiens vacuolar protein sorting 72 homolog (S. cerevisiae) (VPS72), mRNA.	174					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTGGCCTCCCGGAGCAGTTC	0.547000													6	245					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42162929	42162929	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr20:42162929C>A	uc002xkn.1	+	7	743	c.612C>A	c.(610-612)ccC>ccA	p.P204P	L3MBTL1_uc010zwh.2_Silent_p.P513P|L3MBTL1_uc002xkm.3_Silent_p.P445P|L3MBTL1_uc010ggl.3_Silent_p.P445P|L3MBTL1_uc002xkl.3_Silent_p.P445P|L3MBTL1_uc002xko.3_Silent_p.P97P	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	445					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TGCAGCGACCCCCTCACAGCT	0.637000													5	53					0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1080260	1080260	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:1080260C>A	uc002lqz.1	+	13	1941	c.1710C>A	c.(1708-1710)ccC>ccA	p.P570P	HMHA1_uc010xgd.1_Silent_p.P586P|HMHA1_uc010xge.1_Silent_p.P410P|HMHA1_uc002lra.1_Silent_p.P410P|HMHA1_uc002lrb.1_Silent_p.P453P|HMHA1_uc002lrc.1_Silent_p.P205P	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	570					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTAGGTCCCCCGTCATGCGTG	0.657000													5	124					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7645632	7645632	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:7645632C>A	uc002cys.2	+	7	1538	c.550C>A	c.(550-552)Cgt>Agt	p.R184S	RBFOX1_uc010buf.1_Missense_Mutation_p.R184S|RBFOX1_uc002cyr.1_Missense_Mutation_p.R183S|RBFOX1_uc002cyt.2_Missense_Mutation_p.R184S|RBFOX1_uc010uxz.1_Missense_Mutation_p.R227S|RBFOX1_uc010uya.1_Intron|RBFOX1_uc002cyv.1_Missense_Mutation_p.R184S|RBFOX1_uc010uyb.1_Missense_Mutation_p.R184S|RBFOX1_uc002cyw.2_Missense_Mutation_p.R204S|RBFOX1_uc002cyy.2_Missense_Mutation_p.R204S|RBFOX1_uc002cyx.2_Missense_Mutation_p.R204S|RBFOX1_uc010uyc.1_Missense_Mutation_p.R204S	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	184	RRM.	Interaction with RNA.			RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding	p.F183F(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GGTAGAGGGCCGTAAAATCGA	0.453000													7	135					0	0	1	0	0
MAPK1	5594	broad.mit.edu	37	22	22160189	22160189	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr22:22160189G>T	uc002zvn.3	-	2	682	c.442C>A	c.(442-444)Cgt>Agt	p.R148S	MAPK1_uc002zvo.3_Missense_Mutation_p.R148S|MAPK1_uc010gtk.1_Missense_Mutation_p.R148S	NM_002745	NP_620407	P28482	MK01_HUMAN	Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA.	148	Protein kinase.				ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|RNA polymerase II carboxy-terminal domain kinase activity|phosphatase binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	TTGAGGTCACGGTGCAGAACG	0.428000													5	121					0	0	1	0	0
KBTBD6	89890	broad.mit.edu	37	13	41706178	41706178	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr13:41706178C>A	uc001uxu.1	-	0	759	c.470G>T	c.(469-471)cGg>cTg	p.R157L	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	157							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ACAGGCTTCCCGCACATATTC	0.587000													6	72					0	0	1	0	0
FBXO4	26272	broad.mit.edu	37	5	41939622	41939622	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:41939622G>T	uc003jmq.3	+	5	1034	c.978G>T	c.(976-978)ttG>ttT	p.L326F		NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN	Homo sapiens F-box protein 4 (FBXO4), transcript variant 1, mRNA.	326					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein polyubiquitination|telomere maintenance|ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex|cytoplasm	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				GACCATTGTTGGTTTTATCTT	0.393000													7	134					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123200045	123200045	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:123200045G>T	uc004eua.3	+	21	2521	c.2117G>T	c.(2116-2118)tGg>tTg	p.W706L	STAG2_uc004etz.4_Missense_Mutation_p.W706L|STAG2_uc004eub.3_Missense_Mutation_p.W706L|STAG2_uc004euc.3_Missense_Mutation_p.W706L|STAG2_uc004eud.3_Missense_Mutation_p.W706L|STAG2_uc004eue.3_Missense_Mutation_p.W706L	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	706				W -> R (in Ref. 5; CAA99732).	cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTTTCAAAGTGGGATTTATTT	0.284000													4	53					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95183129	95183129	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:95183129C>A	uc003ygh.2	-	7	993	c.868G>T	c.(868-870)Gga>Tga	p.G290*	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Nonsense_Mutation_p.G290*	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	290	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TAAATATCTCCTTCCTGGTCA	0.468000													6	167					0	0	1	0	0
TMCO1	54499	broad.mit.edu	37	1	165697264	165697264	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:165697264G>A	uc001gdj.4	-	6	710	c.563C>T	c.(562-564)tCt>tTt	p.S188F	TMCO1_uc001gdk.4_Missense_Mutation_p.S176F|TMCO1_uc001gdn.4_Non-coding_Transcript	NM_019026	NP_061899	Q9UM00	TMCO1_HUMAN	Homo sapiens transmembrane and coiled-coil domains 1 (TMCO1), transcript variant 1, mRNA.	188						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TTGAGTTCAAGAGAACTTCCC	0.473000													4	120					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9739702	9739702	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:9739702G>T	uc002gmd.1	+	2	292	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W	GLP2R_uc010cog.1_Non-coding_Transcript	NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	98					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.G98W(2)|p.G98E(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	ATTTTGTAACGGGACATTTGA	0.483000													6	199					0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	825174	825174	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:825174G>T	uc010krz.1	+	12	2472	c.2452G>T	c.(2452-2454)Ggg>Tgg	p.G818W	HEATR2_uc003siz.2_Missense_Mutation_p.G686W|HEATR2_uc003sjb.2_Missense_Mutation_p.G198W|HEATR2_uc003sjc.2_Missense_Mutation_p.G243W	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	818							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		AGAGGGCAGCGGGCTGTTCCC	0.537000													9	174					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63851754	63851754	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:63851754C>A	uc001jlt.2	+	9	2988	c.2532C>A	c.(2530-2532)acC>acA	p.T844T	ARID5B_uc001jlu.2_Silent_p.T601T	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	844					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ACAGACACACCGAGCACCATC	0.483000													5	118					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156643199	156643199	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:156643199G>T	uc003iov.3	+	9	2262	c.1726G>T	c.(1726-1728)Gga>Tga	p.G576*	GUCY1A3_uc010iqc.2_Nonsense_Mutation_p.G576*|GUCY1A3_uc010iqd.3_Nonsense_Mutation_p.G575*|GUCY1A3_uc003iow.3_Nonsense_Mutation_p.G576*|GUCY1A3_uc003iox.3_Nonsense_Mutation_p.G576*|GUCY1A3_uc010iqe.3_Nonsense_Mutation_p.G341*|GUCY1A3_uc003ioy.3_Nonsense_Mutation_p.G576*|GUCY1A3_uc003ioz.3_Nonsense_Mutation_p.G341*|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Nonsense_Mutation_p.G576*	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	576	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GATGCGAATTGGACTGCACTC	0.403000													7	236					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12461101	12461101	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:12461101T>C	uc002mtr.1	-	5	1909	c.1298A>G	c.(1297-1299)tAt>tGt	p.Y433C	ZNF442_uc010xmk.1_Missense_Mutation_p.Y364C	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TTTACATTCATAGGGTTTCTC	0.413000													4	87					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37686906	37686906	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:37686906C>A	uc010cvv.3	+	13	4396	c.3810C>A	c.(3808-3810)ccC>ccA	p.P1270P	CDK12_uc002hrw.4_Silent_p.P1261P	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1270	Poly-Pro.				RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTGAGCCCCCCGGACCTCCAC	0.577000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			7	308					0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779116	156779116	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:156779116C>A	uc009wsh.2	-	6	1051	c.911G>T	c.(910-912)cGg>cTg	p.R304L	SH2D2A_uc001fqc.1_Missense_Mutation_p.R266L|SH2D2A_uc001fqd.2_Missense_Mutation_p.R294L|SH2D2A_uc001fqe.2_Missense_Mutation_p.R276L|SH2D2A_uc010phs.1_Missense_Mutation_p.R294L	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA.	294	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGGCTGCCCCGGCCCATGGC	0.612000													7	203					0	0	1	0	0
PROCA1	147011	broad.mit.edu	37	17	27031418	27031418	+	Missense_Mutation	SNP	C	C	A	rs143668972		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:27031418C>A	uc002hcb.3	-	3	472	c.269G>T	c.(268-270)cGg>cTg	p.R90L	PROCA1_uc010crv.2_Missense_Mutation_p.R16L|PROCA1_uc002hca.1_Missense_Mutation_p.R88L	NM_152465	NP_689678	Q8NCQ7	PRCA1_HUMAN	Homo sapiens protein interacting with cyclin A1 (PROCA1), mRNA.	116					lipid catabolic process		calcium ion binding|phospholipase A2 activity	p.A90A(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GCCCGCGCCCCGGGAGCTGCT	0.627000													6	202					0	0	1	0	0
LRRC27	80313	broad.mit.edu	37	10	134165144	134165144	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:134165144C>A	uc010quw.1	+	6	1155	c.960C>A	c.(958-960)ccC>ccA	p.P320P	LRRC27_uc001llf.2_Missense_Mutation_p.P352Q|LRRC27_uc010quv.1_Silent_p.P320P|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Silent_p.P320P|LRRC27_uc001llj.2_Silent_p.P258P|LRRC27_uc001llk.4_Silent_p.P193P	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	320								p.P320P(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GCATCTTACCCGACCTCTTGT	0.502000													9	244					0	0	1	0	0
TECR	9524	broad.mit.edu	37	19	14674848	14674848	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:14674848C>A	uc002mza.3	+	5	452	c.322C>A	c.(322-324)Cga>Aga	p.R108R	TECR_uc010xns.2_5'UTR|TECR_uc002mzc.3_5'UTR|TECR_uc002mzb.3_Silent_p.R123R|TECR_uc002mze.3_5'Flank	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase (TECR), transcript variant 1, mRNA.	108					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						CTTCTACTTCCGAGTGCCCTT	0.557000													6	286					0	0	1	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37304228	37304228	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:37304228G>T	uc003zzq.3	+	3	871	c.698G>T	c.(697-699)cGg>cTg	p.R233L	ZCCHC7_uc011lqh.2_5'UTR|ZCCHC7_uc022bgu.1_Missense_Mutation_p.R233L|ZCCHC7_uc010mlt.3_Missense_Mutation_p.R232L	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 7 (ZCCHC7), mRNA.	233				R -> W (in Ref. 1; BAC11087).			nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		TGGACCCAGCGGTACTATTCA	0.368000													4	69					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55423580	55423580	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:55423580C>A	uc002qib.2	+	5	765	c.727C>A	c.(727-729)Cag>Aag	p.Q243K	NCR1_uc002qic.2_Missense_Mutation_p.Q242K|NCR1_uc002qie.2_Intron|NCR1_uc002qid.2_Missense_Mutation_p.Q148K|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Missense_Mutation_p.Q136K	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	243					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GACGGGACTCCAGAAAGGTAA	0.517000													5	101					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854620	12854620	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:12854620G>T	uc001auj.2	+	2	947	c.844G>T	c.(844-846)Ggg>Tgg	p.G282W		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	282										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCTTCAGTGGGCACCTGGA	0.438000													7	242					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47890291	47890291	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:47890291G>T	uc003cru.3	+	16	3179	c.2753G>T	c.(2752-2754)cGg>cTg	p.R918L	DHX30_uc003crt.3_Missense_Mutation_p.R879L|MIR1226_uc021wxj.1_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	918						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTACAGAACCGGGCAGAGGTG	0.627000													4	61					0	0	1	0	0
SLC25A38	54977	broad.mit.edu	37	3	39437927	39437927	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:39437927C>A	uc003cjo.2	+	6	1232	c.831C>A	c.(829-831)ccC>ccA	p.P277P		NM_017875	NP_060345	Q96DW6	S2538_HUMAN	Homo sapiens solute carrier family 25, member 38 (SLC25A38), nuclear gene encoding mitochondrial protein, mRNA.	277					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GTGGCATCCCCCGAGCCCTCC	0.493000													8	302					0	0	1	0	0
FOXJ3	22887	broad.mit.edu	37	1	42657173	42657173	+	Silent	SNP	G	G	T	rs1139979		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:42657173G>T	uc001che.3	-	10	1464	c.1152C>A	c.(1150-1152)ccC>ccA	p.P384P	FOXJ3_uc001chf.3_Silent_p.P384P|FOXJ3_uc001chh.2_Silent_p.P350P|FOXJ3_uc001chg.3_Silent_p.P384P	NM_001198851	NP_001185780	Q9UPW0	FOXJ3_HUMAN	Homo sapiens forkhead box J3 (FOXJ3), transcript variant 3, mRNA.	384					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCGGTCGATGGGGAGGATGTG	0.602000													9	194					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561888	145561888	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:145561888C>A	uc001eob.1	+	9	1684	c.1576C>A	c.(1576-1578)Cgt>Agt	p.R526S	ANKRD35_uc010oyx.1_Missense_Mutation_p.R369S	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	526								p.P525A(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGGGACTCCCCGTGCTGAGGC	0.622000													5	186					0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	124036819	124036819	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:124036819C>A	uc003ktq.1	-	1	1233	c.1050G>T	c.(1048-1050)gtG>gtT	p.V350V	ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003kts.1_Silent_p.V350V|ZNF608_uc003ktt.1_Silent_p.V350V	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	350						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TATTGACACCCACAGAACGAG	0.512000													5	82					0	0	1	0	0
SPOCK1	6695	broad.mit.edu	37	5	136315094	136315094	+	Silent	SNP	C	C	A	rs151231301		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:136315094C>A	uc003lbo.3	-	8	1247	c.1056G>T	c.(1054-1056)acG>acT	p.T352T	SPOCK1_uc003lbp.3_Silent_p.T352T	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	352	Thyroglobulin type-1.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCACTGCCCCGTGCTGCCGT	0.552000													5	110					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161162389	161162389	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:161162389C>A	uc003qtm.4	+	16	2177	c.2065C>A	c.(2065-2067)Cca>Aca	p.P689T		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	689	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCTGCCATCCCCAAATTATGT	0.478000													5	70					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123066724	123066724	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:123066724G>T	uc003egh.2	-	2	1311	c.1311C>A	c.(1309-1311)ccC>ccA	p.P437P	ADCY5_uc021xdd.1_Silent_p.P87P|ADCY5_uc003egg.2_Silent_p.P70P|ADCY5_uc003egi.1_5'UTR	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	437					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CAACATGACGGGGAAGGACAG	0.522000													7	218					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145093097	145093097	+	Silent	SNP	A	A	G			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:145093097A>G	uc003qkt.3	+	57	8642	c.8550A>G	c.(8548-8550)caA>caG	p.Q2850Q		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	2850	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACTCTTTCAATCCCTTGGTA	0.269000													4	85					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128879	248128879	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:248128879C>A	uc010pzd.2	+	0	246	c.246C>A	c.(244-246)tcC>tcA	p.S82S	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTCAGCTCTCCATCGTTGACC	0.463000													6	161					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168271129	168271129	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:168271129G>T	uc021zik.1	+	2	561	c.242G>T	c.(241-243)cGg>cTg	p.R81L	MLLT4_uc003qwb.1_Missense_Mutation_p.R122L|MLLT4_uc003qwc.2_Missense_Mutation_p.R122L|MLLT4_uc021zij.1_Missense_Mutation_p.R122L	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	122	Ras-associating 1.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AAAGATGATCGGGAAGGCAGA	0.393000			T	MLL	AL								7	419					0	0	1	0	0
RTP3	83597	broad.mit.edu	37	3	46539657	46539657	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:46539657C>A	uc003cps.1	+	0	173	c.105C>A	c.(103-105)ccC>ccA	p.P35P		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA.	35					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		GCCTTCTTCCCAACGTCCTGA	0.532000													5	75					0	0	1	0	0
METTL7A	25840	broad.mit.edu	37	12	51318927	51318927	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:51318927T>C	uc001rxb.3	+	0	394	c.106T>C	c.(106-108)Ttc>Ctc	p.F36L	METTL7A_uc010smv.1_Missense_Mutation_p.F36L	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN	Homo sapiens methyltransferase like 7A (METTL7A), mRNA.	36						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	p.F36S(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CAAAAAATGGTTCCCCTACTT	0.488000													17	68					0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57101937	57101937	+	Splice_Site	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:57101937C>A	uc001njt.3	-	3	507	c.240_splice	c.e3+1	p.S80_splice	SSRP1_uc010rjq.1_Splice_Site_p.S80_splice	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.	80					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GACATCTCACCGATTCTCGGA	0.448000													6	248					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81050862	81050862	+	Silent	SNP	C	C	A	rs149025019	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:81050862C>A	uc001kaf.2	+	9	1259	c.687C>A	c.(685-687)ccC>ccA	p.P229P	ZMIZ1_uc001kag.2_Silent_p.P105P|ZMIZ1_uc001kah.1_Silent_p.P105P	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	229					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGGCTGGCCCCGCTCAGCCCT	0.672000													5	79					0	0	1	0	0
RRM2B	50484	broad.mit.edu	37	8	103231175	103231175	+	Splice_Site	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:103231175C>A	uc022azl.1	-	6	776	c.767_splice	c.e6-1	p.G256_splice	RRM2B_uc003ykn.3_Splice_Site_p.G184_splice|RRM2B_uc010mbv.2_Splice_Site_p.G132_splice|RRM2B_uc003yko.3_Splice_Site|RRM2B_uc010mbw.1_Intron|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron	NM_001172477	NP_001165948	Q7LG56	RIR2B_HUMAN	Homo sapiens ribonucleotide reductase M2 B (TP53 inducible) (RRM2B), transcript variant 2, mRNA.	184					DNA repair|deoxyribonucleoside diphosphate metabolic process|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			CACTCTTTCCCCTGGGAGACA	0.363000								Modulation of nucleotide pools					10	155					0	0	1	0	0
KCNA7	3743	broad.mit.edu	37	19	49573388	49573388	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:49573388C>A	uc002pmg.3	-	1	1659	c.1303G>T	c.(1303-1305)Ggg>Tgg	p.G435W		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA.	435						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		GGTACCTCCCCGTCCACCAGC	0.622000													4	66					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117403208	117403208	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:117403208C>A	uc001prh.1	-	3	723	c.721G>T	c.(721-723)Ggg>Tgg	p.G241W	DSCAML1_uc001pri.1_Missense_Mutation_p.G45W	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	181	Ig-like C2-type 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.G241V(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATGTACAGCCCGCCGTGGTAG	0.547000													4	77					0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172641848	172641848	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:172641848G>T	uc002uhh.2	-	17	2062	c.1973C>A	c.(1972-1974)cCg>cAg	p.P658Q	SLC25A12_uc010fqh.2_Missense_Mutation_p.P551Q	NM_003705	NP_003696	O75746	CMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA.	658					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding	p.P658L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	CTTAAATTTCGGGAGATAAAG	0.507000													6	119					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107390458	107390458	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:107390458C>A	uc003prs.2	-	4	2587	c.1937G>T	c.(1936-1938)cGg>cTg	p.R646L		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	646	BEN 3.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CTCCGTGTCCCGGCGCCGGCA	0.642000													4	57					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532130	42532130	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr18:42532130G>T	uc010dni.3	+	3	3121	c.2825G>T	c.(2824-2826)cGg>cTg	p.R942L		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	942						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGAGGAAACGGAAAAGCCTG	0.522000									Schinzel-Giedion syndrome				4	69					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179456349	179456349	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:179456349G>T	uc021vsy.1	-	251	52718	c.52493C>A	c.(52492-52494)cCg>cAg	p.P17498Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P11193Q|TTN_uc021vta.1_Missense_Mutation_p.P11126Q|TTN_uc021vtb.1_Missense_Mutation_p.P11001Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18425	Ig-like 103.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P17496Q(1)|p.P11126L(1)|p.P11001L(1)|p.P11193Q(1)|p.P17498Q(1)|p.P17498L(1)|p.P11193L(1)|p.P11001Q(1)|p.P11126Q(1)|p.P17496L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATTCTATCGGGATAGTTGT	0.333000													7	282					0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153727178	153727178	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:153727178C>A	uc009wom.3	+	9	1141	c.920C>A	c.(919-921)cCg>cAg	p.P307Q	INTS3_uc001fct.3_Missense_Mutation_p.P307Q|INTS3_uc001fcu.3_5'UTR|INTS3_uc001fcv.3_Missense_Mutation_p.P101Q|INTS3_uc010peb.2_Missense_Mutation_p.P101Q|INTS3_uc001fcw.3_5'UTR|INTS3_uc010pec.2_5'Flank	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	308					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGTCTAACCCCGGACATGGAG	0.488000													5	196					0	0	1	0	0
ELF1	1997	broad.mit.edu	37	13	41515071	41515071	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr13:41515071G>T	uc001uxs.3	-	7	1615	c.1242C>A	c.(1240-1242)tcC>tcA	p.S414S	ELF1_uc010tfc.2_Silent_p.S390S|ELF1_uc010acd.3_Silent_p.S307S	NM_172373	NP_758961	P32519	ELF1_HUMAN	Homo sapiens E74-like factor 1 (ets domain transcription factor) (ELF1), transcript variant 1, mRNA.	414					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S413Y(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TACTCTGAACGGAAGAATTTA	0.418000													4	80					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152716671	152716671	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:152716671C>A	uc021zhb.1	-	48	7915	c.7692G>T	c.(7690-7692)ttG>ttT	p.L2564F	SYNE1_uc003qot.4_Missense_Mutation_p.L2571F|SYNE1_uc003qou.4_Missense_Mutation_p.L2564F|SYNE1_uc010kjb.1_Missense_Mutation_p.L2547F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2564					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.F2563L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCAGTTCTCCCAAAAACATTT	0.398000										HNSCC(10;0.0054)			5	119					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60785254	60785254	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:60785254C>A	uc001nqq.3	+	10	1831	c.1606C>A	c.(1606-1608)Cac>Aac	p.H536N	CD6_uc001nqp.3_Missense_Mutation_p.H536N|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.H504N|CD6_uc001nqt.3_Missense_Mutation_p.H495N	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	536					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GCATGCCTCCCACATCCCAAC	0.542000													6	116					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409180	130409180	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:130409180C>A	uc004ewe.4	-	16	3563	c.3280G>T	c.(3280-3282)Ggg>Tgg	p.G1094W	IGSF1_uc004ewd.3_Missense_Mutation_p.G1089W|IGSF1_uc022cdv.1_Missense_Mutation_p.G1080W|IGSF1_uc004ewf.2_Missense_Mutation_p.G1069W	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1089	Ig-like C2-type 11.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGCAGTTCCCCTTGACACTGA	0.547000													6	130					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69416515	69416515	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:69416515G>C	uc021xov.1	-	4	1236	c.1193C>G	c.(1192-1194)gCg>gGg	p.A398G		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	398					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.A398A(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						ATGTTGATCCGCAAACAAGGG	0.463000													56	62					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19492794	19492794	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:19492794G>T	uc003cbk.1	+	9	1918	c.1723G>T	c.(1723-1725)Ggg>Tgg	p.G575W	KCNH8_uc011awe.1_3'UTR|KCNH8_uc010hex.1_Missense_Mutation_p.G36W|KCNH8_uc011awf.1_3'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	575						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTGTGCTCCGGGGGAGTATCT	0.507000													6	125					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128493829	128493829	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:128493829G>T	uc003vnz.4	+	38	6631	c.6422G>T	c.(6421-6423)cGg>cTg	p.R2141L	FLNC_uc003voa.4_Missense_Mutation_p.R2108L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2141					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ATCACCCGGCGGAGACAGGCA	0.637000													4	56					0	0	1	0	0
ULBP3	79465	broad.mit.edu	37	6	150386567	150386567	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:150386567G>T	uc003qns.3	-	2	676	c.595C>A	c.(595-597)Ctg>Atg	p.L199M	ULBP3_uc011eej.1_Missense_Mutation_p.L74M|ULBP3_uc011eek.1_Missense_Mutation_p.L150M	NM_024518	NP_078794	Q9BZM4	N2DL3_HUMAN	Homo sapiens UL16 binding protein 3 (ULBP3), mRNA.	199	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation	MHC class I protein complex|anchored to membrane	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		CTGTGCATCAGGAAGTCCCTA	0.532000													7	110					0	0	1	0	0
NFKB1	4790	broad.mit.edu	37	4	103528395	103528395	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:103528395G>T	uc011ceq.2	+	17	2507	c.2040G>T	c.(2038-2040)caG>caT	p.Q680H	NFKB1_uc011cep.2_Missense_Mutation_p.Q681H|NFKB1_uc011cer.2_Missense_Mutation_p.Q500H	NM_001165412	NP_001158884	P19838	NFKB1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA.	680	Interaction with CFLAR.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	I-kappaB/NF-kappaB complex|cytosol|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TCAATGCTCAGGAGCAGAAGT	0.567000													6	115					0	0	1	0	0
GPR84	53831	broad.mit.edu	37	12	54756831	54756831	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:54756831C>A	uc021qyp.1	-	0	805	c.805G>T	c.(805-807)Ggg>Tgg	p.G269W	GPR84_uc001sfu.3_Missense_Mutation_p.G269W	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	Homo sapiens G protein-coupled receptor 84 (GPR84), mRNA.	269						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GATGAGTCCCCTTCCAGGGTC	0.547000													7	208					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140769108	140769108	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:140769108C>A	uc003lkc.2	+	0	1657	c.1657C>A	c.(1657-1659)Cgc>Agc	p.R553S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	557	Cadherin 5.				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)			AGTGGACGACCGCAACGACAA	0.677000													4	70					0	0	1	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58196539	58196539	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:58196539C>A	uc003djo.1	-	0	192	c.95G>T	c.(94-96)gGg>gTg	p.G32V	DNASE1L3_uc011bfd.1_Missense_Mutation_p.G32V|DNASE1L3_uc003djp.1_Missense_Mutation_p.G32V|DNASE1L3_uc003djq.1_Missense_Mutation_p.G32V	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA.	32					DNA catabolic process|apoptosis	nucleus	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	p.G32W(1)		breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		CTTGCTTTCCCCAAAGGACCT	0.587000													7	219					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854314	12854314	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:12854314C>A	uc001auj.2	+	2	641	c.538C>A	c.(538-540)Ctg>Atg	p.L180M		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	180										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTTAGTACACCTGTGCTGTAG	0.398000													12	516					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14508883	14508883	+	Silent	SNP	C	C	A	rs137977160	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:14508883C>A	uc002myl.3	+	8	1209	c.829C>A	c.(829-831)Cga>Aga	p.R277R	CD97_uc002mym.3_Silent_p.R228R|CD97_uc002myn.3_Silent_p.R184R	NM_078481	NP_510966	P48960	CD97_HUMAN	Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.	277					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GACGCTTTCCCGATTCTTCGA	0.587000													4	64					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131750440	131750440	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:131750440C>A	uc004bws.1	+	23	2530	c.2508C>A	c.(2506-2508)ccC>ccA	p.P836P	NUP188_uc004bwu.3_Silent_p.P179P	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	836					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGGTGTCCCCCCTGGAACAGG	0.463000													8	262					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16680139	16680139	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:16680139G>T	uc003jft.4	-	32	4927	c.4459C>A	c.(4459-4461)Cgg>Agg	p.R1487R	MYO10_uc011cnb.2_Silent_p.R116R|MYO10_uc011cnc.2_Silent_p.R366R|MYO10_uc011cnd.2_Silent_p.R844R|MYO10_uc011cne.2_Silent_p.R844R|MYO10_uc010itx.3_Silent_p.R1109R	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1487	PH 2.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CTGGACCACCGGGTGGCCTCG	0.587000													5	43					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198285223	198285223	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:198285223C>A	uc002uue.3	-	3	392	c.344G>T	c.(343-345)cGg>cTg	p.R115L	SF3B1_uc010fsk.1_Non-coding_Transcript|SF3B1_uc002uuf.3_Missense_Mutation_p.R115L|SF3B1_uc002uug.3_Missense_Mutation_p.R115L	NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	115					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTCATCTTCCCGGTCTGCAAT	0.373000			Mis		myelodysplastic syndrome								4	93					0	0	1	0	0
ORAI2	80228	broad.mit.edu	37	7	102087147	102087147	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:102087147C>A	uc010lhz.1	+	3	648	c.413C>A	c.(412-414)cCg>cAg	p.P138Q	ORAI2_uc003uzj.2_Missense_Mutation_p.P138Q|ORAI2_uc003uzk.2_Missense_Mutation_p.P138Q|ORAI2_uc011kks.1_Missense_Mutation_p.P61Q	NM_001126340	NP_116220	Q96SN7	ORAI2_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 2 (ORAI2), transcript variant 1, mRNA.	138						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						AGCGAGTCCCCGCATGAGCGC	0.622000													6	157					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135405107	135405107	+	Missense_Mutation	SNP	G	G	A	rs142877839	by1000genomes	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:135405107G>A	uc004ezu.1	+	4	532	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	GPR112_uc010nsb.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	81					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TACTAATAACGCCCTCCTGGG	0.448000													53	36					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130840365	130840365	+	Missense_Mutation	SNP	C	C	A	rs145502622		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:130840365C>A	uc003kvn.2	-	10	1414	c.1208G>T	c.(1207-1209)cGg>cTg	p.R403L	RAPGEF6_uc003kvp.2_Missense_Mutation_p.R453L|RAPGEF6_uc003kvo.2_Missense_Mutation_p.R403L|RAPGEF6_uc010jdi.2_Missense_Mutation_p.R403L|RAPGEF6_uc010jdj.2_Missense_Mutation_p.R403L|RAPGEF6_uc003kvq.3_Missense_Mutation_p.R120L|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Missense_Mutation_p.R403L|RAPGEF6_uc010jdk.3_Missense_Mutation_p.R403L	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	403					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GTCTAGTTCCCGATGCTCATG	0.383000													4	90					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558382	106558382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:106558382C>A	uc009yxn.1	-	8	2575	c.2185G>T	c.(2185-2187)Gag>Tag	p.E729*	GUCY1A2_uc001pjg.1_Nonsense_Mutation_p.E698*|GUCY1A2_uc010rvo.1_Nonsense_Mutation_p.E719*	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	698					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GTCCTTACCTCCAGGAAATAG	0.448000													7	191					0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196736638	196736638	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:196736638C>A	uc003fxk.4	-	10	1490	c.1376G>T	c.(1375-1377)cGg>cTg	p.R459L		NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	459	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GGAGCTGTCCCGTCTCACCAC	0.667000													4	85					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44176967	44176967	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:44176967C>A	uc003gwu.3	-	1	1546	c.1262G>T	c.(1261-1263)cGg>cTg	p.R421L		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	421						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ATTTGTTTCCCGGGACTTGCT	0.413000										HNSCC(17;0.042)			11	347					0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124952115	124952115	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:124952115C>A	uc003ehx.4	-	8	1941	c.1455G>T	c.(1453-1455)agG>agT	p.R485S	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.R485S|ZNF148_uc010hsa.3_Missense_Mutation_p.R485S|ZNF148_uc003eia.4_Missense_Mutation_p.R485S|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	485					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						GCGCATATTCCCTGCTGTTGT	0.448000													7	172					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167322382	167322382	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:167322382C>A	uc002udu.2	-	6	910	c.780G>T	c.(778-780)atG>atT	p.M260I	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	260					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCAAGTTGCCCATGAAGAGCC	0.408000													5	85					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38933096	38933096	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:38933096C>A	uc003jln.2	+	17	2892	c.2490C>A	c.(2488-2490)acC>acA	p.T830T	OSMR_uc011cpj.2_Silent_p.T34T	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	830					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TCACAGAAACCGAGTTGACTA	0.453000													5	122					0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6093356	6093356	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr18:6093356G>T	uc002kmz.4	-	14	1531	c.1371C>A	c.(1369-1371)ccC>ccA	p.P457P	L3MBTL4_uc002kmy.4_Silent_p.P457P|L3MBTL4_uc010dkt.3_Silent_p.P457P	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	457					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTTCTTACCTGGGCTGACTGT	0.318000													5	119					0	0	1	0	0
MPV17L2	84769	broad.mit.edu	37	19	18305895	18305895	+	Splice_Site	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:18305895G>T	uc010ebj.3	+	2	914	c.295_splice	c.e2+1	p.E99_splice	MPV17L2_uc002nid.3_Splice_Site_p.R188_splice			Q567V2	M17L2_HUMAN	Homo sapiens MPV17 mitochondrial membrane protein-like 2 (MPV17L2), nuclear gene encoding mitochondrial protein, mRNA.	0						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						TTGAAGTACCGGGTGAGTGTG	0.612000													4	88					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21986433	21986433	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:21986433C>A	uc003xas.3	-	1	916	c.251G>T	c.(250-252)gGg>gTg	p.G84V	HR_uc003xat.3_Missense_Mutation_p.G84V|HR_uc010lts.2_Missense_Mutation_p.G84V	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	84							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTTCCTCTCCCCATTCTGGGG	0.667000													5	66					0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73464580	73464580	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:73464580G>T	uc001xnm.3	-	2	1648	c.927C>A	c.(925-927)tcC>tcA	p.S309S	ZFYVE1_uc010arj.3_Silent_p.S309S	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	Homo sapiens zinc finger, FYVE domain containing 1 (ZFYVE1), transcript variant 1, mRNA.	309						Golgi stack|endoplasmic reticulum|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GGCCCAGTGTGGATAAAGGGA	0.532000													4	54					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	100994203	100994203	+	Silent	SNP	G	G	T	rs75330957	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:100994203G>T	uc003yjb.1	-	21	3517	c.3322C>A	c.(3322-3324)Cgg>Agg	p.R1108R	RGS22_uc003yja.1_Silent_p.R927R|RGS22_uc003yjc.1_Silent_p.R1096R|RGS22_uc022azf.1_Silent_p.R497R	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	1108	RGS 2.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AACTCCTTCCGGTGTTCAATA	0.363000													6	208					0	0	1	0	0
CD3E	916	broad.mit.edu	37	11	118175676	118175676	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:118175676G>T	uc001psq.4	+	1	265	c.9G>T	c.(7-9)tcG>tcT	p.S3S	CD3E_uc010rya.2_Silent_p.S3S	NM_000733	NP_000724	P07766	CD3E_HUMAN	Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA.	3					G-protein coupled receptor protein signaling pathway|T cell costimulation|T cell receptor signaling pathway|signal complex assembly|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	SH3 domain binding|T cell receptor binding|protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	AGATGCAGTCGGGCACTCACT	0.488000													7	230					0	0	1	0	0
C7orf33	202865	broad.mit.edu	37	7	148311213	148311213	+	Missense_Mutation	SNP	C	C	A	rs151073020	by1000genomes	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:148311213C>A	uc003wew.3	+	1	645	c.284C>A	c.(283-285)cCg>cAg	p.P95Q		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	Homo sapiens chromosome 7 open reading frame 33 (C7orf33), mRNA.	95								p.A94T(1)		central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TCTGGTGCCCCGTGGCATTTT	0.517000													5	64					0	0	1	0	0
FAM60A	58516	broad.mit.edu	37	12	31435764	31435764	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:31435764C>A	uc001rkc.3	-	4	865	c.623G>T	c.(622-624)gGg>gTg	p.G208V	FAM60A_uc010sjz.2_Missense_Mutation_p.G183V|FAM60A_uc001rkd.3_Missense_Mutation_p.G183V|FAM60A_uc010ska.2_Missense_Mutation_p.G183V|FAM60A_uc001rke.3_Missense_Mutation_p.G183V|FAM60A_uc010skb.2_Non-coding_Transcript	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN	Homo sapiens family with sequence similarity 60, member A (FAM60A), transcript variant 2, mRNA.	183										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					GAGGACTTCCCCAAAACGGCC	0.428000													5	59					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38502605	38502605	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:38502605G>T	uc003tgu.3	-	9	1074	c.858C>A	c.(856-858)ccC>ccA	p.P286P	AMPH_uc003tgv.3_Silent_p.P286P|AMPH_uc003tgt.3_Silent_p.P39P	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	286					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GTGCTGGTGCGGGAGACGCAG	0.547000													5	127					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146755763	146755763	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:146755763C>A	uc010khw.1	+	8	3886	c.3416C>A	c.(3415-3417)cCg>cAg	p.P1139Q	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	1139					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AAACTGACCCCGGATGATTCG	0.657000													5	96					0	0	1	0	0
STK17A	9263	broad.mit.edu	37	7	43659292	43659292	+	Silent	SNP	C	C	A	rs149915695		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:43659292C>A	uc003tih.3	+	3	812	c.661C>A	c.(661-663)Cga>Aga	p.R221R	C7orf44_uc003tij.3_Intron|C7orf44_uc010kxu.2_Intron	NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN	Homo sapiens serine/threonine kinase 17a (STK17A), mRNA.	221	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	p.R221*(3)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGAAGAGCTCCGAGAAATTAT	0.403000													4	127					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47811153	47811153	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr21:47811153C>A	uc002zji.4	+	20	4185	c.4078C>A	c.(4078-4080)Cgt>Agt	p.R1360S	PCNT_uc002zjj.3_Missense_Mutation_p.R1242S	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1360					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTCCGAGCACCGTCTGGTGCT	0.637000													3	17					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409163	56409163	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:56409163G>T	uc001njb.1	-	0	753	c.753C>A	c.(751-753)ctC>ctA	p.L251L	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TGACAGCCATGAGGTAAGAGG	0.458000													6	121					0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60241887	60241887	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr18:60241887C>A	uc002lip.4	+	12	2573	c.2573C>A	c.(2572-2574)cCa>cAa	p.P858Q	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Missense_Mutation_p.P328Q	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	858					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GGTAGTTTCCCAGGCTCTCCT	0.502000													5	90					0	0	1	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49379177	49379177	+	Missense_Mutation	SNP	C	C	A	rs35007147	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:49379177C>A	uc002pky.4	+	2	2241	c.1972C>A	c.(1972-1974)Cgc>Agc	p.R658S		NM_014330	NP_055145	O75807	PR15A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.	658					apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	p.R658R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CACACCTTCCCGCTCGTCTGC	0.572000													5	99					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73951039	73951039	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:73951039G>T	uc003hgp.3	-	29	7203	c.7086C>A	c.(7084-7086)ccC>ccA	p.P2362P	ANKRD17_uc003hgo.3_Silent_p.P2249P|ANKRD17_uc003hgq.3_Silent_p.P2111P|ANKRD17_uc003hgr.3_Silent_p.P2361P	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	2362					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TAGCAGCTGCGGGTGCTCCTC	0.448000													7	252					0	0	1	0	0
KRTAP6-1	337966	broad.mit.edu	37	21	31986134	31986134	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr21:31986134C>A	uc002yop.3	-	0	90	c.90G>T	c.(88-90)ctG>ctT	p.L30L	KRTAP20-1_uc011ade.2_5'Flank	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN	Homo sapiens keratin associated protein 6-1 (KRTAP6-1), mRNA.	30						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						AGCCACAGCCCAGGCCTCCAT	0.597000													6	159					0	0	1	0	0
SLC24A5	283652	broad.mit.edu	37	15	48431332	48431332	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:48431332C>A	uc001zwe.3	+	6	1111	c.1038C>A	c.(1036-1038)tcC>tcA	p.S346S	SLC24A5_uc010bel.3_Silent_p.S286S|AK021664_uc001zwf.1_5'Flank|SLC24A5_uc001zwk.3_5'Flank	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN	Homo sapiens solute carrier family 24, member 5 (SLC24A5), mRNA.	346					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TATGGATATCCGCATTTACAT	0.294000													5	118					0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895796	24895796	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr13:24895796G>T	uc001upj.3	+	3	953	c.892G>T	c.(892-894)Ggg>Tgg	p.G298W	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	298	C1q.					collagen	hormone activity	p.G298R(2)		endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GCTGAAGCTCGGGGATGAGGT	0.507000													5	161					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160141497	160141497	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:160141497C>A	uc001fve.4	+	11	2283	c.1804C>A	c.(1804-1806)Cga>Aga	p.R602R	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Silent_p.R105R	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	602					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R602R(4)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGACCCTCCCCGAGCTGCAGT	0.483000													5	210					0	0	1	0	0
DNALI1	7802	broad.mit.edu	37	1	38023281	38023281	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:38023281C>A	uc001cbj.3	+	1	235	c.225C>A	c.(223-225)ccC>ccA	p.P75P	DNALI1_uc010oie.2_Non-coding_Transcript	NM_003462	NP_003453	O14645	IDLC_HUMAN	Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.	53					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAAGCTCCCCTCAACTCCCT	0.562000													7	202					0	0	1	0	0
C5orf45	51149	broad.mit.edu	37	5	179264807	179264807	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:179264807C>A	uc003mla.3	-	6	660	c.616G>T	c.(616-618)Ggg>Tgg	p.G206W	SQSTM1_uc011dgr.2_3'UTR|SQSTM1_uc011dgs.2_3'UTR|SQSTM1_uc003mkw.4_3'UTR|SQSTM1_uc003mkx.3_3'UTR|C5orf45_uc003mky.2_Missense_Mutation_p.G203W|C5orf45_uc011dgt.1_Missense_Mutation_p.G206W|C5orf45_uc011dgu.1_Missense_Mutation_p.G151W|C5orf45_uc003mlc.3_Missense_Mutation_p.G151W|C5orf45_uc003mlb.3_Missense_Mutation_p.G72W|C5orf45_uc021yjh.1_Non-coding_Transcript	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	Homo sapiens chromosome 5 open reading frame 45 (C5orf45), transcript variant 1, mRNA.	206										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						CTCAGCTCCCCGGCACTGCAG	0.572000													4	86					0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99339859	99339859	+	Silent	SNP	C	C	A	rs146831294		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr13:99339859C>A	uc001vno.3	-	20	1880	c.1803G>T	c.(1801-1803)acG>acT	p.T601T		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	601					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	ATTCCAATCCCGTGACAGAGA	0.423000													7	138					0	0	1	0	0
CDK4	1019	broad.mit.edu	37	12	58143048	58143048	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:58143048G>T	uc001spv.3	-	6	1028	c.736C>A	c.(736-738)Cgt>Agt	p.R246S	CDK4_uc010ssb.2_Missense_Mutation_p.R126S|CDK4_uc001spw.3_Non-coding_Transcript|DM110804_uc010ssc.1_5'Flank	NM_000075	NP_000066	P11802	CDK4_HUMAN	Homo sapiens cyclin-dependent kinase 4 (CDK4), mRNA.	246	Protein kinase.				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			AAGGCTCCACGGGGCAGGGAT	0.632000			Mis			melanoma			Hereditary Melanoma				6	101					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56486593	56486593	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:56486593G>T	uc001sjh.3	+	9	1448	c.1172G>T	c.(1171-1173)cGg>cTg	p.R391L	ERBB3_uc009zoj.3_Intron|ERBB3_uc010sqb.2_Intron|ERBB3_uc010sqc.2_Missense_Mutation_p.R332L|ERBB3_uc009zok.3_5'Flank|ERBB3_uc001sjj.1_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	391					Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CGGACAGTACGGGAGATCACA	0.478000													5	99					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17046492	17046492	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:17046492G>T	uc001azn.1	-	0	161	c.47C>A	c.(46-48)cCc>cAc	p.P16H						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CCTCAGGGAGGGGAAGTCTCC	0.627000													5	62					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170139490	170139490	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:170139490C>A	uc002ues.3	-	9	1277	c.1064G>T	c.(1063-1065)tGg>tTg	p.W355L	LRP2_uc010zdf.1_Missense_Mutation_p.W355L	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	355	EGF-like 2.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACAAATTCCCCATATCTGGCA	0.423000													6	184					0	0	1	0	0
MNT	4335	broad.mit.edu	37	17	2290904	2290904	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:2290904C>A	uc002fur.3	-	5	1292	c.1040G>T	c.(1039-1041)cGg>cTg	p.R347L		NM_020310	NP_064706	Q99583	MNT_HUMAN	Homo sapiens MAX binding protein (MNT), mRNA.	347					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CAGGCCCGCCCGGTCCTCCTC	0.672000													7	289					0	0	1	0	0
FXYD3	5349	broad.mit.edu	37	19	35613692	35613692	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:35613692G>T	uc010xsm.2	+	7	569	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W	FXYD3_uc010xsl.1_Missense_Mutation_p.G41W|FXYD3_uc010xsn.2_Missense_Mutation_p.G41W|FXYD3_uc002nxw.3_Missense_Mutation_p.G41W|FXYD3_uc002nxv.3_Missense_Mutation_p.G41W|FXYD3_uc010xso.2_Missense_Mutation_p.G41W	NM_001136007	NP_005962	Q14802	FXYD3_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 3 (FXYD3), transcript variant 3, mRNA.	41						chloride channel complex|integral to plasma membrane	chloride channel activity			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CCAGGTTGGCGGGCTCATCTG	0.627000													5	124					0	0	1	0	0
ZSWIM1	90204	broad.mit.edu	37	20	44512170	44512170	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr20:44512170C>A	uc021wem.1	+	0	939	c.939C>A	c.(937-939)ccC>ccA	p.P313P	ZSWIM1_uc010ghi.3_Silent_p.P313P	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN	Homo sapiens zinc finger, SWIM-type containing 1 (ZSWIM1), mRNA.	313							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				ACACCATCCCCGAAAGCCCCA	0.567000													6	125					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150922978	150922978	+	Silent	SNP	C	C	A	rs151157460		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:150922978C>A	uc003lue.4	-	8	7723	c.7710G>T	c.(7708-7710)acG>acT	p.T2570T		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2570	Cadherin 22.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.T2570M(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGATCTTCACCGTGCAGAAGG	0.468000													6	200					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216226286	216226286	+	Silent	SNP	G	G	T	rs146924311	by1000genomes	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:216226286G>T	uc002vfa.3	-	45	7692	c.7426C>A	c.(7426-7428)Cga>Aga	p.R2476R	FN1_uc002vfc.3_Silent_p.R2239R|FN1_uc002vfe.3_Silent_p.R2354R|FN1_uc002vff.3_Silent_p.R2329R|FN1_uc002vfg.3_Silent_p.R2295R|FN1_uc002vfh.3_Silent_p.R2175R|FN1_uc002vfi.3_Silent_p.R2445R|FN1_uc002vfj.3_Silent_p.R2266R|FN1_uc002vfb.3_Silent_p.R2264R|FN1_uc002vez.3_Silent_p.R639R|FN1_uc010zjp.2_Silent_p.R1013R	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	2385					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTTACTCTCGGGAATCTTCT	0.408000													5	180					0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62597667	62597667	+	Silent	SNP	G	G	T	rs3752314		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr20:62597667G>T	uc002yhl.1	-	4	915	c.861C>A	c.(859-861)ccC>ccA	p.P287P		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGACCGGCACGGGTTTCGTAA	0.557000													6	258					0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8737329	8737329	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:8737329C>A	uc001mgt.3	-	5	1852	c.1666G>T	c.(1666-1668)Ggg>Tgg	p.G556W	ST5_uc009yfr.3_Missense_Mutation_p.G136W|ST5_uc001mgu.3_Missense_Mutation_p.G136W|ST5_uc001mgv.3_Missense_Mutation_p.G556W|ST5_uc010rbq.1_Non-coding_Transcript|ST5_uc010rbp.2_Missense_Mutation_p.G69W	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	556					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GACCAGTTCCCACTGCGCAGG	0.622000													5	107					0	0	1	0	0
AARS	16	broad.mit.edu	37	16	70287895	70287895	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:70287895C>A	uc002eyn.1	-	17	2557	c.2447G>T	c.(2446-2448)cGg>cTg	p.R816L	EXOSC6_uc002eym.1_5'Flank|AARS_uc010vlu.1_Missense_Mutation_p.R646L	NM_001605	NP_001596	P49588	SYAC_HUMAN	Homo sapiens alanyl-tRNA synthetase (AARS), mRNA.	816					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding	p.L815L(1)		breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GAGAGTCTCCCGCAATTCATC	0.557000											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	157					0	0	1	0	0
ZNF232	7775	broad.mit.edu	37	17	5009563	5009563	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:5009563G>T	uc002gat.3	-	4	1546	c.891C>A	c.(889-891)ccC>ccA	p.P297P	ZNF232_uc002gar.1_Silent_p.P288P	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	Homo sapiens zinc finger protein 232 (ZNF232), mRNA.	270					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TCTTCCCTGTGGGAATTTCCT	0.458000													5	91					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143994820	143994820	+	Silent	SNP	G	G	T	rs140463031		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:143994820G>T	uc003yxk.1	-	5	1005	c.1002C>A	c.(1000-1002)ccC>ccA	p.P334P		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	334					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.P334P(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCTGCACGTCGGGGTTCCGAG	0.637000									Familial Hyperaldosteronism type I				5	149					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94487459	94487459	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:94487459C>A	uc001dqh.3	-	32	4820	c.4716G>T	c.(4714-4716)acG>acT	p.T1572T		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1572					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTGCTTCCCCCGTGATGGGGA	0.502000													6	91					0	0	1	0	0
BSX	390259	broad.mit.edu	37	11	122850125	122850125	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:122850125C>A	uc010rzs.2	-	1	303	c.303G>T	c.(301-303)gcG>gcT	p.A101A		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	Homo sapiens brain-specific homeobox (BSX), mRNA.	101										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CCGGCAGCTCCGCGTGCTGCG	0.657000													4	62					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145109660	145109660	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:145109660C>A	uc001eml.1	+	3	459	c.319C>A	c.(319-321)Cga>Aga	p.R107R	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) (SEC22B), mRNA.	108	Longin.				ER to Golgi vesicle-mediated transport|protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane|melanosome	protein binding										CACTGTGTCCCGACCCTATTC	0.418000													16	816					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082881	9082881	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:9082881G>T	uc002mkp.3	-	0	9138	c.8934C>A	c.(8932-8934)ccC>ccA	p.P2978P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2979	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCTGAAGTGGGGACTCTGG	0.502000													6	157					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75601721	75601721	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:75601721C>A	uc001sxg.1	-	1	587	c.43G>T	c.(43-45)Ggg>Tgg	p.G15W	KCNC2_uc009zry.3_Missense_Mutation_p.G15W|KCNC2_uc001sxe.3_Missense_Mutation_p.G15W|KCNC2_uc001sxf.3_Missense_Mutation_p.G15W|KCNC2_uc010stw.1_Missense_Mutation_p.G15W	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	15					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CGGGTGCCCCCGACATTGAGG	0.592000													5	76					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156931516	156931516	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:156931516G>T	uc001fqo.3	-	12	2112	c.1072C>A	c.(1072-1074)Cga>Aga	p.R358R	ARHGEF11_uc001fqn.3_Silent_p.R398R	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	358	RGSL.				G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCAAGCTTCGGGAATCCTTG	0.438000													5	104					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857805	9857805	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:9857805G>T	uc010uym.2	-	13	3906	c.3596C>A	c.(3595-3597)cCg>cAg	p.P1199Q	GRIN2A_uc002czo.4_Missense_Mutation_p.P1199Q|GRIN2A_uc010uyn.2_Missense_Mutation_p.P1042Q|GRIN2A_uc002czr.4_Missense_Mutation_p.P1199Q	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1199					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P1199A(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCACTGTGCGGGGAACCCTT	0.532000													12	437					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70963530	70963530	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:70963530C>A	uc001swb.4	-	11	2935	c.2905G>T	c.(2905-2907)Ggg>Tgg	p.G969W	PTPRB_uc010sto.2_Missense_Mutation_p.G969W|PTPRB_uc010stp.2_Missense_Mutation_p.G879W|PTPRB_uc001swc.4_Missense_Mutation_p.G1187W|PTPRB_uc001swa.4_Missense_Mutation_p.G1099W|PTPRB_uc001swd.4_Missense_Mutation_p.G1186W|PTPRB_uc009zrr.2_Missense_Mutation_p.G1066W	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	969	Fibronectin type-III 11.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TACTGCTCCCCGGCCTCCAGT	0.532000													5	91					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	6925231	6925231	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:6925231C>A	uc011bwg.2	+	1	194	c.115C>A	c.(115-117)Cga>Aga	p.R39R	TBC1D14_uc003gjs.4_Silent_p.R39R	NM_001113361	NP_065824	Q9P2M4	TBC14_HUMAN	Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 2, mRNA.	39						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CAAGGCGCCCCGACTCCTCTC	0.582000													4	90					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154158637	154158637	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:154158637G>T	uc004fmt.3	-	13	3599	c.3428C>A	c.(3427-3429)cCc>cAc	p.P1143H		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1143	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTTTGGACTGGGGCCTTGCCC	0.413000													5	66					0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41778018	41778018	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:41778018C>A	uc002oqb.4	+	2	739	c.450C>A	c.(448-450)ccC>ccA	p.P150P	HNRNPUL1_uc002opz.4_Silent_p.P50P|HNRNPUL1_uc002oqa.4_Silent_p.P50P|HNRNPUL1_uc010ehm.3_Silent_p.P150P|HNRNPUL1_uc002oqc.4_Silent_p.P107P|HNRNPUL1_uc002oqe.4_Intron|HNRNPUL1_uc002oqd.4_Silent_p.P50P|HNRNPUL1_uc010ehn.3_Silent_p.P50P|HNRNPUL1_uc010xvy.2_Silent_p.P50P|HNRNPUL1_uc010ehp.3_Silent_p.P6P|HNRNPUL1_uc010ehl.1_Silent_p.P50P	NM_007040	NP_653333	Q9BUJ2	HNRL1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 1 (HNRNPUL1), transcript variant 1, mRNA.	150					nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AAGGAGCACCCACCAGCTTCC	0.507000													7	132					0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75485588	75485588	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:75485588C>A	uc001xrd.1	-	11	4402	c.4186G>T	c.(4186-4188)Ggg>Tgg	p.G1396W	MLH3_uc001xre.1_Missense_Mutation_p.G1372W	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	1396					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GAAGGTCTCCCGTGAGCACAC	0.468000								Mismatch excision repair (MMR)					6	107					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19654493	19654493	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:19654493C>A	uc002nmw.4	+	7	1242	c.1157C>A	c.(1156-1158)cCa>cAa	p.P386Q	CILP2_uc002nmv.4_Missense_Mutation_p.P380Q	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	380						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TCCCCAGCCCCAGGCCAGCCA	0.632000													9	347					0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196509570	196509570	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:196509570T>A	uc003fwy.4	+	1	375	c.53T>A	c.(52-54)aTg>aAg	p.M18K		NM_002577	NP_002568	Q13177	PAK2_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 (PAK2), mRNA.	18					T cell costimulation|T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CCTGTGCGAATGAGCAGCACC	0.443000													10	216					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85327598	85327598	+	Silent	SNP	C	C	A	rs148220929		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:85327598C>A	uc002bld.3	+	3	2028	c.1692C>A	c.(1690-1692)ccC>ccA	p.P564P	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	564					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N563T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCTCCAACCCCGTGCCCCTCT	0.592000													6	151					0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42598245	42598245	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr21:42598245C>A	uc002yyw.3	+	1	828	c.365C>A	c.(364-366)cCg>cAg	p.P122Q	BACE2_uc002yyx.3_Missense_Mutation_p.P122Q|BACE2_uc002yyy.3_Missense_Mutation_p.P122Q	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 2 (BACE2), transcript variant a, mRNA.	122					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	Golgi apparatus|cell surface|endoplasmic reticulum|endosome|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GCAGGAACCCCGCACTCCTAC	0.463000													5	93					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100489676	100489676	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:100489676G>T	uc003dun.3	-	28	2604	c.2519C>A	c.(2518-2520)cCa>cAa	p.P840Q	ABI3BP_uc003duj.3_Missense_Mutation_p.P420Q|ABI3BP_uc003duk.3_Missense_Mutation_p.P549Q|ABI3BP_uc003dul.3_Missense_Mutation_p.P670Q|ABI3BP_uc011bhd.2_Missense_Mutation_p.P794Q|ABI3BP_uc003dum.3_Missense_Mutation_p.P251Q	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	840	Fibronectin type-III 2.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTTGGTGGGTGGGTTCTGTGG	0.537000													6	135					0	0	1	0	0
UBXN2A	165324	broad.mit.edu	37	2	24194266	24194266	+	Silent	SNP	C	C	A	rs142297419		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:24194266C>A	uc010exy.3	+	3	630	c.162C>A	c.(160-162)ccC>ccA	p.P54P	UBXN2A_uc002rem.3_Non-coding_Transcript|UBXN2A_uc002ren.3_Silent_p.P54P|UBXN2A_uc010ykj.2_Silent_p.P54P	NM_181713	NP_859064	P68543	UBX2A_HUMAN	Homo sapiens UBX domain protein 2A (UBXN2A), mRNA.	54								p.P54P(2)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						GTGTGTCTCCCGCTGAACAGA	0.343000													6	182					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76471369	76471369	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:76471369G>T	uc010dhp.2	-	53	8627	c.8502C>A	c.(8500-8502)ccC>ccA	p.P2834P	DNAH17_uc002jvs.3_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCTTGAGGTCGGGGATCCCGT	0.552000													4	104					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48506581	48506581	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:48506581C>A	uc003toq.2	+	43	12868	c.12844C>A	c.(12844-12846)Cgt>Agt	p.R4282S	ABCA13_uc010kys.1_Missense_Mutation_p.R1357S|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Intron	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4282					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGACCTCACCCGTGTGCTTCT	0.493000													6	130					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43188277	43188277	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:43188277C>A	uc003ouk.3	+	31	6438	c.6363C>A	c.(6361-6363)ccC>ccA	p.P2121P	CUL9_uc003oul.3_Silent_p.P2093P|CUL9_uc010jyk.3_Silent_p.P1273P|CUL9_uc003oun.3_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	2121					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCGACTGCCCCGCCCAGCCCA	0.582000													6	220					0	0	1	0	0
ITPKC	80271	broad.mit.edu	37	19	41239114	41239114	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:41239114C>A	uc002oot.3	+	3	1552	c.1519C>A	c.(1519-1521)Cgg>Agg	p.R507R		NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA.	507	Substrate binding.					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCCCCGTCCCCGGAAGGACAT	0.572000													4	59					0	0	1	0	0
MGLL	11343	broad.mit.edu	37	3	127540540	127540540	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:127540540G>T	uc003ejx.3	-	1	267	c.122C>A	c.(121-123)cCc>cAc	p.P41H	MGLL_uc003ejw.3_Missense_Mutation_p.P51H|MGLL_uc011bko.2_Missense_Mutation_p.P51H|MGLL_uc010hsp.1_Missense_Mutation_p.P41H	NM_001003794	NP_001003794	Q99685	MGLL_HUMAN	Homo sapiens monoglyceride lipase (MGLL), transcript variant 2, mRNA.	41					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GACTTACTTGGGTGTGCCTGT	0.602000													5	86					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26800829	26800829	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:26800829C>A	uc001iss.3	+	6	1006	c.685C>A	c.(685-687)Caa>Aaa	p.Q229K	APBB1IP_uc009xks.1_Missense_Mutation_p.Q229K	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	229	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CCCGGAACTACAAATTGGTAA	0.433000													5	101					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67680686	67680686	+	Splice_Site	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:67680686G>T	uc002etn.3	+	7	657	c.537_splice	c.e7+1	p.W179_splice	RLTPR_uc010cel.1_Splice_Site_p.W179_splice|RLTPR_uc010vjr.2_Splice_Site_p.W179_splice	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	179										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GAGATTCAGTGGGTGAGGGTA	0.587000													6	138					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6513403	6513403	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:6513403G>T	uc002gde.4	-	8	1982	c.1623C>A	c.(1621-1623)tcC>tcA	p.S541S	KIAA0753_uc010vtd.2_5'UTR|KIAA0753_uc010clo.3_Silent_p.S242S|KIAA0753_uc010vte.2_Silent_p.S242S	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	541						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TTTTTAATCTGGATGAAACTG	0.473000													5	104					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176913135	176913135	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:176913135C>T	uc001glc.3	-	13	2481	c.2269G>A	c.(2269-2271)Ggt>Agt	p.G757S	ASTN1_uc001glb.1_Missense_Mutation_p.G757S|ASTN1_uc001gld.1_Missense_Mutation_p.G757S|ASTN1_uc009wwx.1_Missense_Mutation_p.G757S	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	765					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGTCTAAACCACGAGCAAAG	0.483000													17	59					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71816722	71816722	+	Splice_Site	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:71816722G>T	uc010fen.3	+	31	3544	c.3403_splice	c.e31-1	p.G1135_splice	DYSF_uc010fei.3_Splice_Site_p.G1134_splice|DYSF_uc010feh.3_Splice_Site_p.G1103_splice|DYSF_uc002sig.4_Splice_Site_p.G1103_splice|DYSF_uc010yqx.2_Splice_Site|DYSF_uc010feg.3_Splice_Site_p.G1148_splice|DYSF_uc010fee.3_Splice_Site_p.G1117_splice|DYSF_uc010fef.3_Splice_Site_p.G1134_splice|DYSF_uc002sie.3_Splice_Site_p.G1117_splice|DYSF_uc010feo.3_Splice_Site_p.G1149_splice|DYSF_uc010fej.3_Splice_Site_p.G1104_splice|DYSF_uc010fel.3_Splice_Site_p.G1104_splice|DYSF_uc010fem.3_Splice_Site_p.G1118_splice|DYSF_uc002sif.3_Splice_Site_p.G1118_splice|DYSF_uc010fek.3_Splice_Site_p.G1135_splice|DYSF_uc010yqy.2_Splice_Site	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1117						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGTGTCTCCAGGGCGGCGTGA	0.562000													6	126					0	0	1	0	0
IQCF1	132141	broad.mit.edu	37	3	51929026	51929026	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:51929026C>A	uc003dbv.3	-	3	596	c.498G>T	c.(496-498)cgG>cgT	p.R166R	IQCF1_uc003dbq.4_Intron	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	Homo sapiens IQ motif containing F1 (IQCF1), mRNA.	166										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGATGAACCCCCGGGAAGCAC	0.587000													7	177					0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38120875	38120875	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:38120875C>A	uc001izd.1	-	5	1907	c.1408G>T	c.(1408-1410)Ggg>Tgg	p.G470W	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.G470W	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						AAGGATTTCCCACATGCATTA	0.433000													6	116					0	0	1	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30084733	30084733	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:30084733G>T	uc003taq.3	+	1	475	c.73G>T	c.(73-75)Gga>Tga	p.G25*	PLEKHA8_uc022aba.1_Nonsense_Mutation_p.G25*|PLEKHA8_uc003tan.3_Nonsense_Mutation_p.G25*	NM_001197026	NP_001183955	Q96JA3	PKHA8_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8), transcript variant 1, mRNA.	25	PH.				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TCTCTGTGGGGGAATATTGTC	0.433000													7	162					0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9324896	9324896	+	Silent	SNP	C	C	A	rs150001713		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:9324896C>A	uc002mla.2	-	0	652	c.618G>T	c.(616-618)ctG>ctT	p.L206L		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GAAACACACCCAGCAGTGCCG	0.507000													6	117					0	0	1	0	0
CCDC7	221016	broad.mit.edu	37	10	32833174	32833174	+	Splice_Site	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:32833174G>T	uc001iwj.3	+	14	1650	c.1080_splice	c.e14-1	p.K360_splice	CCDC7_uc001iwk.3_Splice_Site_p.K360_splice|CCDC7_uc009xlv.3_Splice_Site	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN	Homo sapiens coiled-coil domain containing 7 (CCDC7), transcript variant 1, mRNA.	360										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TTATGTTACAGGAAGATGTCT	0.294000													5	97					0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66436961	66436961	+	Silent	SNP	C	C	A	rs151016157		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:66436961C>A	uc002eom.4	+	11	2400	c.2244C>A	c.(2242-2244)acC>acA	p.T748T		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	748	Ser-rich.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCCTGGGCACCGACTCATCCG	0.642000													4	31					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445720	10445720	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:10445720A>G	uc003gmn.3	-	2	2720	c.2233T>C	c.(2233-2235)Tat>Cat	p.Y745H	ZNF518B_uc021xme.1_Missense_Mutation_p.Y745H	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	745					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AAGTGTGGATATATTTGTTGA	0.468000													27	112					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128486957	128486957	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:128486957C>A	uc003vnz.4	+	23	4495	c.4286C>A	c.(4285-4287)cCa>cAa	p.P1429Q	FLNC_uc003voa.4_Missense_Mutation_p.P1429Q	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1429					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGGCCCATCCCAGGTGTGCAG	0.582000													5	76					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57060668	57060668	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:57060668C>A	uc021tiu.1	+	4	1940	c.1813C>A	c.(1813-1815)Cgc>Agc	p.R605S	NLRC5_uc021tit.1_Missense_Mutation_p.R605S|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.R410S|NLRC5_uc021tiw.1_Missense_Mutation_p.R410S|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	605					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding	p.R605R(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTTGGCCACCCGCAAGCTCAC	0.597000													5	62					0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41476306	41476306	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:41476306C>A	uc010ucv.2	-	11	1814	c.1542G>T	c.(1540-1542)aaG>aaT	p.K514N	EXD1_uc001znj.3_Missense_Mutation_p.K254N|EXD1_uc001znk.3_Missense_Mutation_p.K456N	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	456					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTAAATCTTCCTTGTTTTCCA	0.378000													6	130					0	0	1	0	0
RFXANK	8625	broad.mit.edu	37	19	19308928	19308928	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:19308928C>A	uc002nls.3	+	6	956	c.451C>A	c.(451-453)Cac>Aac	p.H151N	RFXANK_uc002nlt.3_Missense_Mutation_p.H128N|RFXANK_uc002nlu.3_Missense_Mutation_p.H129N|RFXANK_uc002nlv.3_Missense_Mutation_p.H151N|RFXANK_uc021uqt.1_Missense_Mutation_p.H150N	NM_003721	NP_003712	O14593	RFXK_HUMAN	Homo sapiens regulatory factor X-associated ankyrin-containing protein (RFXANK), transcript variant 1, mRNA.	151						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			TGCCGACCCCCACATCCTGGC	0.587000													6	169					0	0	1	0	0
RIBC2	26150	broad.mit.edu	37	22	45813805	45813805	+	Missense_Mutation	SNP	C	C	A	rs137932273		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr22:45813805C>A	uc011aqs.2	+	3	726	c.517C>A	c.(517-519)Cgt>Agt	p.R173S		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	Homo sapiens RIB43A domain with coiled-coils 2 (RIBC2), mRNA.	106										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GAAGAACGCCCGTGCTGAACA	0.418000													3	23					0	0	1	0	0
PPCS	79717	broad.mit.edu	37	1	42925369	42925369	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:42925369C>A	uc001chl.3	+	2	772	c.708C>A	c.(706-708)ccC>ccA	p.P236P	PPCS_uc001chk.3_Silent_p.P63P	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN	Homo sapiens phosphopantothenoylcysteine synthetase (PPCS), transcript variant 1, mRNA.	236					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity	p.P236P(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGACTGACCCCGCCATTGTAA	0.408000													5	90					0	0	1	0	0
HSPB9	94086	broad.mit.edu	37	17	40275108	40275108	+	Silent	SNP	C	C	A	rs150293597	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:40275108C>A	uc002hyy.2	+	0	353	c.240C>A	c.(238-240)acC>acA	p.T80T	KAT2A_uc002hyx.2_5'Flank	NM_033194	NP_149971	Q9BQS6	HSPB9_HUMAN	Homo sapiens heat shock protein, alpha-crystallin-related, B9 (HSPB9), mRNA.	80					response to stress	cytoplasm|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TGATGGTGACCGGACAGCAGC	0.592000													6	128					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105405768	105405768	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:105405768C>A	uc010axc.1	-	6	16140	c.16020G>T	c.(16018-16020)atG>atT	p.M5340I	AHNAK2_uc021sen.1_Missense_Mutation_p.M737I|AHNAK2_uc021seo.1_Missense_Mutation_p.M338I|AHNAK2_uc001ypx.2_Missense_Mutation_p.M5240I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5340						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)			TTTTATCCTCCATGCTGGCAA	0.463000													4	34					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42858806	42858806	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:42858806C>A	uc002otl.4	+	21	4512	c.3877C>A	c.(3877-3879)Cgc>Agc	p.R1293S	MEGF8_uc002otm.4_Missense_Mutation_p.R901S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1360	CUB 2.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCAGTCGGACCGCAGCCTCAT	0.602000													8	288					0	0	1	0	0
STAP2	55620	broad.mit.edu	37	19	4332056	4332056	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:4332056C>A	uc002mab.3	-	3	508	c.317G>T	c.(316-318)cGg>cTg	p.R106L	STAP2_uc002mac.3_Missense_Mutation_p.R106L|STAP2_uc021unb.1_Missense_Mutation_p.R106L|STAP2_uc021unc.1_Missense_Mutation_p.R106L|STAP2_uc002mad.3_5'UTR	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	Homo sapiens signal transducing adaptor family member 2 (STAP2), transcript variant 2, mRNA.	106	PH.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACATTTCCCGACACTCCAA	0.488000													4	73					0	0	1	0	0
DDX58	23586	broad.mit.edu	37	9	32467791	32467791	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:32467791C>A	uc003zra.3	-	14	2312	c.2154G>T	c.(2152-2154)gtG>gtT	p.V718V	DDX58_uc010mjj.3_Non-coding_Transcript|DDX58_uc010mjk.1_Silent_p.V673V|DDX58_uc011lnr.1_Silent_p.V515V|DDX58_uc010mji.3_Silent_p.V647V	NM_014314	NP_055129	O95786	DDX58_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58), mRNA.	718	Helicase C-terminal.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TGACATTGCCCACATACTCAT	0.403000													5	85					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152793497	152793497	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:152793497G>T	uc021zhb.1	-	12	1625	c.1402C>A	c.(1402-1404)Cgg>Agg	p.R468R	SYNE1_uc003qot.4_Silent_p.R475R|SYNE1_uc003qou.4_Silent_p.R468R|SYNE1_uc010kjb.1_Silent_p.R451R|SYNE1_uc003qpa.1_Silent_p.R468R|SYNE1_uc003qox.1_5'UTR|SYNE1_uc003qoz.2_5'UTR|SYNE1_uc003qoy.2_Silent_p.R35R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	468					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACCTGGTCCGGTAGATTTCA	0.383000										HNSCC(10;0.0054)			5	145					0	0	1	0	0
PKIB	5570	broad.mit.edu	37	6	123039018	123039018	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:123039018C>A	uc003pzc.3	+	3	259	c.100C>A	c.(100-102)Cgg>Agg	p.R34R	PKIB_uc003pyz.3_Silent_p.R27R|PKIB_uc003pza.3_Silent_p.R27R|PKIB_uc003pzb.3_Silent_p.R27R|PKIB_uc011ebq.2_Silent_p.R27R	NM_181795	NP_861460	Q9C010	IPKB_HUMAN	Homo sapiens protein kinase (cAMP-dependent, catalytic) inhibitor beta (PKIB), transcript variant 1, mRNA.	27							cAMP-dependent protein kinase inhibitor activity			large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		GGCAGGCCGCCGGAATGCCTT	0.498000													5	133					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236205579	236205579	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:236205579C>A	uc001hxo.3	-	3	868	c.766G>T	c.(766-768)Ggg>Tgg	p.G256W	NID1_uc009xgd.3_Missense_Mutation_p.G256W	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	256	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding	p.G256R(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CCCTGCTGCCCAGAGTTACTA	0.572000													7	231					0	0	1	0	0
KLHL25	64410	broad.mit.edu	37	15	86312634	86312634	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:86312634G>T	uc002bly.3	-	1	611	c.408C>A	c.(406-408)gcC>gcA	p.A136A	KLHL25_uc021stw.1_Silent_p.A136A	NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	Homo sapiens kelch-like 25 (Drosophila) (KLHL25), mRNA.	136						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GGAACTCGGCGGCAGCATCCC	0.607000													4	47					0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46722537	46722537	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr13:46722537C>A	uc001vaz.4	-	8	1054	c.928G>T	c.(928-930)Gga>Tga	p.G310*	LCP1_uc001vba.4_Nonsense_Mutation_p.G310*	NM_002298	NP_002289	P13796	PLSL_HUMAN	Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA.	310	Actin-binding 1.|CH 2.				T cell activation involved in immune response|regulation of intracellular protein transport	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCTTCATCTCCTTTTGGAGCC	0.408000			T	BCL6	NHL								8	375					0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72755150	72755150	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:72755150C>A	uc004ahm.2	+	7	1701	c.1084C>A	c.(1084-1086)Cga>Aga	p.R362R	MAMDC2_uc004ahn.2_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	362	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						AGGTTGGACCCGAGTGAAAGT	0.468000													5	128					0	0	1	0	0
TM9SF2	9375	broad.mit.edu	37	13	100196213	100196213	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr13:100196213G>T	uc001voj.1	+	9	1247	c.1114G>T	c.(1114-1116)Ggg>Tgg	p.G372W	TM9SF2_uc010afz.1_Missense_Mutation_p.G207W	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA.	372					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TCTAGGATCCGGGACACAGAT	0.358000													5	101					0	0	1	0	0
FGF13	2258	broad.mit.edu	37	X	137939715	137939715	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:137939715G>T	uc004faq.3	-	1	352	c.176C>A	c.(175-177)cCg>cAg	p.P59Q	FGF13_uc011mwi.2_Missense_Mutation_p.P30Q|FGF13_uc004far.3_Missense_Mutation_p.P30Q|FGF13_uc011mwj.2_Missense_Mutation_p.P59Q|FGF13_uc011mwk.2_Intron	NM_001139502	NP_001132974	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 5, mRNA.	198					MAPKKK cascade|cell-cell signaling|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TTGCTTCAGCGGGCAGCAGAA	0.438000													5	108					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31593588	31593588	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:31593588C>A	uc003nvb.4	+	7	1028	c.779C>A	c.(778-780)cCg>cAg	p.P260Q	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Missense_Mutation_p.P260Q|PRRC2A_uc003nve.3_3'UTR	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	260	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding	p.L259I(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCATATCTCCCGTTCCCTCCG	0.567000													4	70					0	0	1	0	0
ZNF358	140467	broad.mit.edu	37	19	7585101	7585101	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:7585101G>T	uc002mgn.2	+	1	1143	c.973G>T	c.(973-975)Ggc>Tgc	p.G325C	ZNF358_uc021unu.1_Missense_Mutation_p.G325C|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.	325					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						CCCCCACTGCGGCAAAGCCTT	0.706000													4	98					0	0	1	0	0
G0S2	50486	broad.mit.edu	37	1	209849324	209849324	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:209849324C>A	uc021pim.1	+	0	295	c.295C>A	c.(295-297)Cgg>Agg	p.R99R	G0S2_uc001hhi.4_Silent_p.R99R	NM_015714	NP_056529	P27469	G0S2_HUMAN	Homo sapiens G0/G1switch 2 (G0S2), mRNA.	99					cell cycle					large_intestine(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.041)		CCTGTCCAACCGGCAGCACGC	0.662000													4	49					0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	156234121	156234121	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:156234121G>A	uc003far.2	+	10	992	c.928G>A	c.(928-930)Ggg>Agg	p.G310R	KCNAB1_uc011bon.1_Missense_Mutation_p.G281R|KCNAB1_uc003fas.2_Missense_Mutation_p.G299R|KCNAB1_uc003fat.2_Missense_Mutation_p.G292R|KCNAB1_uc010hvt.1_Missense_Mutation_p.G263R|KCNAB1_uc011boo.1_Missense_Mutation_p.G186R	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.	310						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATACGGAAACGGGGTGCCTGA	0.448000													5	96					0	0	1	0	0
ZMYM5	9205	broad.mit.edu	37	13	20426226	20426226	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr13:20426226C>A	uc010tcn.1	-	2	360	c.95G>T	c.(94-96)gGg>gTg	p.G32V	ZMYM5_uc001umm.1_5'UTR|ZMYM5_uc001umn.3_Missense_Mutation_p.G32V|ZMYM5_uc001umo.3_Missense_Mutation_p.G32V	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	Homo sapiens zinc finger, MYM-type 5 (ZMYM5), transcript variant 3, mRNA.	32						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		AAATGAATCCCCTATGTCCAT	0.413000													8	237					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123179972	123179972	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:123179972C>A	uc003ieh.3	+	39	6781	c.6736C>A	c.(6736-6738)Cat>Aat	p.H2246N	KIAA1109_uc003iel.1_Missense_Mutation_p.H181N|KIAA1109_uc003iek.2_Missense_Mutation_p.H865N	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2246					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						AACTCATACCCATAGTGACTC	0.363000													4	39					0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24734902	24734902	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:24734902C>A	uc001wof.3	-	15	2045	c.1623G>T	c.(1621-1623)caG>caT	p.Q541H	TGM1_uc001wod.3_5'Flank|TGM1_uc010tog.2_5'Flank|RABGGTA_uc001wog.3_Missense_Mutation_p.Q541H	NM_004581	NP_878256	Q92696	PGTA_HUMAN	Homo sapiens Rab geranylgeranyltransferase, alpha subunit (RABGGTA), transcript variant 2, mRNA.	541					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GCGGGTTACCCTGCAGGTTGA	0.622000													4	21					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	183975266	183975266	+	Missense_Mutation	SNP	G	G	T	rs76255262	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:183975266G>T	uc003fni.4	+	1	240	c.202G>T	c.(202-204)Ggg>Tgg	p.G68W	ECE2_uc003fnh.4_Missense_Mutation_p.G68W	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	68	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCAGGTTGCGGGAACAGTGC	0.562000													6	77					0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5790299	5790299	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:5790299C>A	uc002mdc.3	-	1	243	c.146G>T	c.(145-147)gGg>gTg	p.G49V	DUS3L_uc002mdd.3_Missense_Mutation_p.G49V|DUS3L_uc010xiw.1_Non-coding_Transcript	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	49					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CTTCTCCTGCCCTTTGGCTTC	0.547000													11	64					0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55044035	55044035	+	RNA	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:55044035C>A	uc010yfa.1	+	0		c.127C>A			KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		AACTCATCACCGTCCTGTGTC	0.527000													4	130					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111633186	111633186	+	Splice_Site	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:111633186C>A	uc001kyp.2	-	16	1512	c.1392_splice	c.e16-1	p.K464_splice	XPNPEP1_uc009xxt.2_Splice_Site_p.A440_splice|XPNPEP1_uc001kyq.2_Splice_Site_p.K350_splice	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA.	421					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GGTGCCATCCCTTTCCAAAAA	0.458000													5	113					0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96850149	96850149	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:96850149C>A	uc010mrj.2	+	2	555	c.453C>A	c.(451-453)tcC>tcA	p.S151S	PTPDC1_uc004auf.2_Silent_p.S97S|PTPDC1_uc004aug.2_Silent_p.S97S|PTPDC1_uc004auh.2_Silent_p.S149S|PTPDC1_uc010mri.2_Silent_p.S149S	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	97							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CCCGCCCATCCTCTGAGCTCC	0.463000													7	160					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135427194	135427194	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:135427194C>A	uc004ezu.1	+	5	1620	c.1329C>A	c.(1327-1329)gcC>gcA	p.A443A	GPR112_uc010nsb.1_Silent_p.A238A|GPR112_uc010nsc.1_Silent_p.A210A	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	443					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTACAGCTGCCGGAACTGTAC	0.478000													4	61					0	0	1	0	0
ETV5	2119	broad.mit.edu	37	3	185783622	185783622	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:185783622C>A	uc003fpy.3	-	7	1081	c.1016G>T	c.(1015-1017)cGg>cTg	p.R339L	ETV5_uc003fpz.3_Missense_Mutation_p.R297L	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	297					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GCAGTAATCCCGAGGCTCCTG	0.507000			T	"""TMPRSS2, SCL45A3"""	Prostate								7	272					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1718167	1718167	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:1718167G>T	uc010uvh.2	+	16	3307	c.3307G>T	c.(3307-3309)Gag>Tag	p.E1103*	CRAMP1L_uc002cmf.3_Non-coding_Transcript	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	1103	Ser-rich.					nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CTCCATCATTGAGATCGCCAT	0.597000													7	100					0	0	1	0	0
HTR2A	3356	broad.mit.edu	37	13	47409210	47409210	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr13:47409210C>A	uc010acr.3	-	3	1867	c.1178G>T	c.(1177-1179)cGg>cTg	p.R393L	HTR2A_uc001vbr.3_Missense_Mutation_p.R309L	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	393					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	p.R393R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CTGAATATACCGTGAAAAGGC	0.418000													8	111					0	0	1	0	0
POMGNT1	55624	broad.mit.edu	37	1	46661730	46661730	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:46661730C>A	uc001cpg.3	-	4	1025	c.374G>T	c.(373-375)cGg>cTg	p.R125L	POMGNT1_uc010olx.2_Missense_Mutation_p.R103L|POMGNT1_uc010oly.2_Non-coding_Transcript|POMGNT1_uc010olz.2_5'UTR|POMGNT1_uc001cpe.3_Missense_Mutation_p.R125L|POMGNT1_uc001cpf.3_5'UTR|POMGNT1_uc001cpj.3_Missense_Mutation_p.R109L	NM_001243766	NP_001230695	Q8WZA1	PMGT1_HUMAN	Homo sapiens protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGNT1), transcript variant 2, mRNA.	125					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GCCCTGCTCCCGGGCCTCATC	0.572000													4	62					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140082056	140082056	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:140082056C>A	uc004clr.1	-	1	690	c.617G>T	c.(616-618)cGg>cTg	p.R206L	ANAPC2_uc004clq.1_Missense_Mutation_p.R65L|ANAPC2_uc011mer.1_Missense_Mutation_p.R206L|SSNA1_uc004cls.2_5'Flank	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	206					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|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|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		ACGGGCATACCGGCTGTCCAG	0.612000													5	117					0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151340723	151340723	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:151340723C>A	uc010pcy.2	-	4	689	c.559G>T	c.(559-561)Ggg>Tgg	p.G187W	SELENBP1_uc001exx.3_Missense_Mutation_p.G145W|SELENBP1_uc010pcz.2_Missense_Mutation_p.G83W|SELENBP1_uc001eya.3_Missense_Mutation_p.G81W	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	145					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATCACTTCCCCGCTGGCCAGG	0.562000													6	200					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729546	196729546	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:196729546C>A	uc002utj.4	-	40	6934	c.6833G>T	c.(6832-6834)aGg>aTg	p.R2278M		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2278					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGTATCCTCCCTCTTGGGATC	0.378000													7	179					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69115669	69115669	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:69115669C>A	uc001suf.3	+	15	1475	c.1360C>A	c.(1360-1362)Cgg>Agg	p.R454R	NUP107_uc001sug.3_Silent_p.R301R|NUP107_uc010stj.2_Silent_p.R425R	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	454					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GGCCTACTTCCGGGTGATGGT	0.448000													4	116					0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7217275	7217275	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:7217275G>C	uc002gfx.1	-	5	822	c.430C>G	c.(430-432)Ctc>Gtc	p.L144V	GPS2_uc002gfw.1_Missense_Mutation_p.L106V|GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_Missense_Mutation_p.L144V	NM_004489	NP_004480	Q13227	GPS2_HUMAN	Homo sapiens G protein pathway suppressor 2 (GPS2), mRNA.	144					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GCTGCCATGAGGGTGCCTGGG	0.547000													35	90					0	0	1	0	0
BGLAP	632	broad.mit.edu	37	1	156212884	156212884	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:156212884G>T	uc001fnt.3	+	3	306	c.234G>T	c.(232-234)ccG>ccT	p.P78P	PMF1-BGLAP_uc021pbb.1_3'UTR|PMF1-BGLAP_uc021pbc.1_3'UTR|PMF1-BGLAP_uc001fns.2_3'UTR|PMF1-BGLAP_uc021pbd.1_3'UTR	NM_199173	NP_954642	P02818	OSTCN_HUMAN	Homo sapiens bone gamma-carboxyglutamate (gla) protein (BGLAP), mRNA.	78	Gla.				bone mineralization|cell adhesion|odontogenesis|regulation of bone mineralization|regulation of bone resorption|regulation of osteoclast differentiation		calcium ion binding|hydroxyapatite binding|structural constituent of bone			large_intestine(3)|lung(1)|urinary_tract(1)	5	Hepatocellular(266;0.158)				Phytonadione(DB01022)	AGCTCAATCCGGACTGTGACG	0.652000													4	100					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28883236	28883236	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:28883236C>A	uc002dri.3	+	7	1884	c.1445C>A	c.(1444-1446)cCc>cAc	p.P482H	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Missense_Mutation_p.P172H|SH2B1_uc002drj.3_Missense_Mutation_p.P482H|SH2B1_uc002drk.3_Missense_Mutation_p.P482H|SH2B1_uc002drl.3_Missense_Mutation_p.P482H|SH2B1_uc010vdd.2_Missense_Mutation_p.P146H|SH2B1_uc010vde.2_Missense_Mutation_p.P482H|SH2B1_uc002drm.3_Missense_Mutation_p.P482H	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	482	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						GAAGAGGGACCCCCAACAGGG	0.612000													5	74					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96282334	96282334	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr13:96282334C>A	uc001vmk.3	-	6	1571	c.719G>T	c.(718-720)cGg>cTg	p.R240L	DZIP1_uc001vml.3_Missense_Mutation_p.R240L	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	240					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	p.L239F(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GATCTCACTCCGGAGCTTCTC	0.473000													4	49					0	0	1	0	0
FBL	2091	broad.mit.edu	37	19	40331128	40331128	+	Missense_Mutation	SNP	C	C	A	rs150661315		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:40331128C>A	uc002omn.3	-	2	323	c.209G>T	c.(208-210)cGg>cTg	p.R70L	FBL_uc002omm.1_5'UTR|FBL_uc002omo.2_Missense_Mutation_p.R69L|FBL_uc010egr.3_Missense_Mutation_p.R70L	NM_001436	NP_001427	P22087	FBRL_HUMAN	Homo sapiens fibrillarin (FBL), mRNA.	70	DMA/Gly-rich.				rRNA processing|tRNA processing	Cajal body|box C/D snoRNP complex	RNA binding|methyltransferase activity|protein binding	p.N69I(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		ACCACGACCCCGGTTGCCACC	0.592000													6	261					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78210890	78210890	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:78210890C>A	uc002jyb.2	+	7	1206	c.900C>A	c.(898-900)acC>acA	p.T300T	SLC26A11_uc002jyc.2_Silent_p.T300T|SLC26A11_uc002jyd.2_Silent_p.T300T|SLC26A11_uc010dhv.2_Silent_p.T300T	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	300						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCTCCTTCACCGAGATGGTGC	0.652000													4	54					0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114711288	114711288	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:114711288C>A	uc021pyi.1	+	2	810	c.303C>A	c.(301-303)ccC>ccA	p.P101P	TCF7L2_uc001lah.3_Silent_p.P101P|TCF7L2_uc010qro.2_Silent_p.P101P|TCF7L2_uc001lae.4_Silent_p.P101P|TCF7L2_uc010qrm.2_Silent_p.P101P|TCF7L2_uc010qrn.2_Silent_p.P101P|TCF7L2_uc021pyg.1_5'UTR|TCF7L2_uc021pyh.1_Silent_p.P101P|TCF7L2_uc021pyj.1_Silent_p.P101P|TCF7L2_uc021pyk.1_Silent_p.P101P|TCF7L2_uc021pyl.1_Silent_p.P101P|TCF7L2_uc010qrp.2_Silent_p.P101P|TCF7L2_uc021pym.1_Silent_p.P101P|TCF7L2_uc021pyn.1_Silent_p.P101P|TCF7L2_uc021pyo.1_Silent_p.P101P|TCF7L2_uc021pyp.1_Silent_p.P101P|TCF7L2_uc010qrq.2_Silent_p.P101P|TCF7L2_uc001lac.4_Silent_p.P101P|TCF7L2_uc010qrk.2_Silent_p.P101P|TCF7L2_uc001lad.4_Silent_p.P101P|TCF7L2_uc001lag.4_Silent_p.P101P|TCF7L2_uc001laf.4_Silent_p.P101P|TCF7L2_uc010qrl.2_Silent_p.P101P|TCF7L2_uc010qrr.2_5'UTR|TCF7L2_uc010qrs.2_5'UTR|TCF7L2_uc010qrt.2_5'UTR	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	101					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CACCGTATCCCGGCTACCCCT	0.697000			T	VTI1A	colorectal								3	30					0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74716640	74716640	+	Missense_Mutation	SNP	C	C	A	rs150170082	by1000genomes	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:74716640C>A	uc002fdb.2	-	5	1306	c.865G>T	c.(865-867)Ggg>Tgg	p.G289W	MLKL_uc002fdc.2_Intron	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	289	Protein kinase.						ATP binding|protein binding|protein kinase activity	p.G289W(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CTCAGGGTCCCGAGTTCACAG	0.562000													4	40					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159530499	159530499	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:159530499C>A	uc002tzv.3	+	18	3374	c.3114C>A	c.(3112-3114)ccC>ccA	p.P1038P	PKP4_uc002tzw.3_Silent_p.P1038P|PKP4_uc002tzx.3_Silent_p.P695P|PKP4_uc002uaa.3_Silent_p.P890P|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_Silent_p.P219P|PKP4_uc002uae.1_Silent_p.P125P	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	1038					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AGATGTCACCCATCATTCAGT	0.468000										HNSCC(62;0.18)			9	150					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98565107	98565107	+	Splice_Site	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:98565107G>T	uc003upp.3	+	50	7487	c.7278_splice	c.e50-1	p.R2426_splice	TRRAP_uc011kis.2_Splice_Site_p.R2408_splice|TRRAP_uc003upr.3_Splice_Site_p.R2125_splice	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2426					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGTGTTACAGGGATGAGACC	0.532000													5	66					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107435533	107435533	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:107435533G>T	uc010hpr.3	+	4	569	c.242G>T	c.(241-243)cGg>cTg	p.R81L	BBX_uc003dwk.4_Missense_Mutation_p.R81L|BBX_uc003dwl.4_Missense_Mutation_p.R81L|BBX_uc010hps.1_Missense_Mutation_p.R102L|BBX_uc003dwm.4_Missense_Mutation_p.R81L	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CAGCGAGCCCGGAGACCAATG	0.468000													4	83					0	0	1	0	0
AEN	64782	broad.mit.edu	37	15	89169896	89169896	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:89169896C>A	uc002bmt.2	+	1	607	c.456C>A	c.(454-456)ccC>ccA	p.P152P	AEN_uc010bnl.2_Silent_p.P152P|AEN_uc010bnm.1_Silent_p.P152P	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	Homo sapiens apoptosis enhancing nuclease (AEN), mRNA.	152	Exonuclease.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						CTGAGATGCCCATCGCTGACT	0.612000													5	91					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9512274	9512274	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:9512274C>A	uc003brt.3	+	18	3291	c.2856C>A	c.(2854-2856)ccC>ccA	p.P952P	SETD5_uc003bru.3_Silent_p.P854P|SETD5_uc003brv.3_Silent_p.P841P|SETD5_uc010hck.3_Silent_p.P434P|SETD5_uc003brx.3_Silent_p.P621P	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	952										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CCCTCGGACCCACTTCTGAGA	0.502000													6	148					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101362373	101362373	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:101362373C>A	uc001pgk.4	-	2	1467	c.1042G>T	c.(1042-1044)Ggg>Tgg	p.G348W	TRPC6_uc009ywy.3_Intron|TRPC6_uc009ywz.1_Missense_Mutation_p.G348W	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	348					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.G348W(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCAACATCCCCATTCAGAATG	0.428000													5	104					0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14157009	14157009	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:14157009G>T	uc002mxx.3	+	6	1235	c.812G>T	c.(811-813)tGg>tTg	p.W271L		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	271					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GTCTGGTTCTGGGTTGGAGGT	0.552000													7	273					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36046700	36046700	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:36046700C>A	uc002oal.1	-	12	1913	c.1884G>T	c.(1882-1884)acG>acT	p.T628T	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	628					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGTGGTCACCCGTTACCATGA	0.602000													5	216					0	0	1	0	0
SMCR8	140775	broad.mit.edu	37	17	18220835	18220835	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:18220835C>A	uc002gsy.4	+	0	2242	c.1732C>A	c.(1732-1734)Cca>Aca	p.P578T		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 8 (SMCR8), mRNA.	578										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AGAAAACACCCCATCACAAAT	0.537000													7	137					0	0	1	0	0
SUCLG1	8802	broad.mit.edu	37	2	84670410	84670410	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:84670410C>A	uc002son.3	-	2	509	c.316G>T	c.(316-318)Gag>Tag	p.E106*	SUCLG1_uc010ysk.1_Nonsense_Mutation_p.E93*	NM_003849	NP_003840	P53597	SUCA_HUMAN	Homo sapiens succinate-CoA ligase, alpha subunit (SUCLG1), nuclear gene encoding mitochondrial protein, mRNA.	106					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	CTAATTACCTCCTTCACAGTA	0.453000													7	152					0	0	1	0	0
XKRX	402415	broad.mit.edu	37	X	100177893	100177893	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:100177893G>T	uc004egn.2	-	1	1098	c.493C>A	c.(493-495)Cgc>Agc	p.R165S	XKRX_uc011mre.1_Intron	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related, X-linked (XKRX), mRNA.	165						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TAGGCATTGCGGTGCATAGCC	0.557000													4	83					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64048723	64048723	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:64048723C>A	uc002amp.3	-	4	1594	c.1446G>T	c.(1444-1446)tgG>tgT	p.W482C	HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Missense_Mutation_p.W482C	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	482					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CACCATCTCCCCAACTGAAGA	0.418000													7	93					0	0	1	0	0
KHSRP	8570	broad.mit.edu	37	19	6418059	6418059	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:6418059C>A	uc002mer.4	-	9	1021	c.911G>T	c.(910-912)cGg>cTg	p.R304L	KHSRP_uc021unp.1_5'Flank	NM_003685	NP_003676	Q92945	FUBP2_HUMAN	Homo sapiens KH-type splicing regulatory protein (KHSRP), mRNA.	304	Gly-rich.				RNA splicing, via transesterification reactions|mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GTCACGTTCCCGGAGGATGTC	0.642000											OREG0025200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	46					0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110426805	110426805	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:110426805C>A	uc001tps.2	-	3	533	c.368G>T	c.(367-369)cGg>cTg	p.R123L	GIT2_uc001tpq.2_Missense_Mutation_p.R123L|GIT2_uc001tpv.2_Missense_Mutation_p.R123L|GIT2_uc001tpu.2_Missense_Mutation_p.R123L|GIT2_uc001tpt.2_Missense_Mutation_p.R123L|GIT2_uc010sxu.1_Missense_Mutation_p.R61L|GIT2_uc001tpw.3_Missense_Mutation_p.R123L|GIT2_uc010sxv.1_Missense_Mutation_p.R123L	NM_057169	NP_476510	Q14161	GIT2_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.	123	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	p.R123L(6)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						ATCGTCATCCCGGCAGGGCAA	0.433000													7	249					0	0	1	0	0
ETNK2	55224	broad.mit.edu	37	1	204106341	204106341	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:204106341C>A	uc001han.4	-	5	1232	c.905G>T	c.(904-906)cGg>cTg	p.R302L	ETNK2_uc010pqr.2_Missense_Mutation_p.R124L|ETNK2_uc001hao.4_Missense_Mutation_p.R302L|ETNK2_uc010pqs.2_Missense_Mutation_p.R261L|ETNK2_uc010pqt.2_Missense_Mutation_p.R124L			Q9NVF9	EKI2_HUMAN	Homo sapiens ethanolamine kinase 2 (ETNK2), mRNA.	302							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTGGGTCTCCCGCGCCGGGTA	0.607000													5	82					0	0	1	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18764236	18764236	+	Missense_Mutation	SNP	G	G	T	rs113497432		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:18764236G>T	uc010exr.3	-	5	1037	c.925C>A	c.(925-927)Cgt>Agt	p.R309S	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.R367S|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.R307S|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.R367S|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.R350S|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.R384S|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.R369S|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.R307S	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	367					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										TATAGATCACGGAGTCTAGCA	0.468000													6	81					0	0	1	0	0
HMGCS1	3157	broad.mit.edu	37	5	43299004	43299004	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:43299004G>T	uc003jnr.4	-	2	271	c.64C>A	c.(64-66)Ctt>Att	p.L22I	HMGCS1_uc003jnq.4_Missense_Mutation_p.L22I	NM_001098272	NP_002121	Q01581	HMCS1_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) (HMGCS1), transcript variant 1, mRNA.	22					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TAGATCTCAAGGGCAACAATT	0.413000													6	95					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111576476	111576476	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:111576476C>A	uc003kpv.1	-	9	1101	c.827G>T	c.(826-828)cGg>cTg	p.R276L		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	276	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AGTTTTACTCCGAGCTTCAAA	0.343000													4	86					0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89799890	89799890	+	Splice_Site	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:89799890G>T	uc002fos.4	+	8	1378	c.1281_splice	c.e8-1	p.R427_splice	ZNF276_uc010ciq.3_Splice_Site_p.R213_splice|ZNF276_uc002foq.4_Splice_Site_p.R352_splice|ZNF276_uc010cir.3_Splice_Site|ZNF276_uc002for.4_Splice_Site_p.R213_splice|ZNF276_uc010cis.3_Splice_Site_p.R186_splice|ZNF276_uc002fot.4_Splice_Site|ZNF276_uc010vpm.2_Splice_Site_p.R265_splice|ZNF276_uc010cit.2_Splice_Site_p.R186_splice	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	Homo sapiens zinc finger protein 276 (ZNF276), transcript variant a, mRNA.	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTCATTGCAGGGAGGAGCTTC	0.622000													6	89					0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178359172	178359172	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:178359172C>A	uc003mjn.1	+	4	1367	c.858C>A	c.(856-858)acC>acA	p.T286T	ZFP2_uc010jky.2_Silent_p.T286T|ZFP2_uc010jkx.1_Silent_p.T286T|ZFP2_uc021yjb.1_Silent_p.T286T	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Homo sapiens zinc finger protein 2 homolog (mouse) (ZFP2), mRNA.	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L285L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		CAACTCTTACCCTACATCAGC	0.383000													5	70					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68965472	68965472	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:68965472C>T	uc003xxv.1	+	8	1111	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	PREX2_uc003xxu.1_Missense_Mutation_p.R362W|PREX2_uc011lez.1_Missense_Mutation_p.R297W	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	362					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAAAGAGAACGGCGGAAAGG	0.383000													7	59					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98039454	98039454	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:98039454C>A	uc001drv.3	-	10	1338	c.1201G>T	c.(1201-1203)Ggg>Tgg	p.G401W		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	401					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ACAATTCTCCCACCTTTTACT	0.413000													5	84					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41829206	41829206	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:41829206C>A	uc001zod.3	-	1	242	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	40						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCATCACCACCGCCCCTATTT	0.587000													5	219					0	0	1	0	0
UBASH3B	84959	broad.mit.edu	37	11	122647778	122647778	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:122647778C>A	uc001pyi.4	+	2	622	c.262C>A	c.(262-264)Cgg>Agg	p.R88R		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.	88						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCCCCTGCCCCGGGAGTACGT	0.557000													4	69					0	0	1	0	0
PPP2R3C	55012	broad.mit.edu	37	14	35564358	35564358	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:35564358C>A	uc001wss.3	-	9	1225	c.871G>T	c.(871-873)Ggc>Tgc	p.G291C	PPP2R3C_uc001wst.3_Missense_Mutation_p.G175C|PPP2R3C_uc010tpr.2_Missense_Mutation_p.G175C|PPP2R3C_uc001wsu.3_Intron	NM_017917	NP_060387	Q969Q6	P2R3C_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', gamma (PPP2R3C), mRNA.	291	EF-hand 1.					centrosome|nucleus	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		CTGAGCATGCCATTGTGATCT	0.373000													5	58					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8158442	8158442	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:8158442C>A	uc002gkr.3	+	3	517	c.376C>A	c.(376-378)Cgg>Agg	p.R126R	PFAS_uc010vuv.2_5'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	126					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCGGCGCTACCGGCTCTCGGT	0.592000													4	84					0	0	1	0	0
TMEM92	162461	broad.mit.edu	37	17	48356601	48356601	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:48356601C>A	uc002iqn.2	+	5	522	c.412C>A	c.(412-414)Cct>Act	p.P138T	TMEM92_uc021tzz.1_Missense_Mutation_p.P138T	NM_001168215	NP_694961	Q6UXU6	TMM92_HUMAN	Homo sapiens transmembrane protein 92 (TMEM92), transcript variant 2, mRNA.	138	Pro-rich.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						AGAGCCACCCCCTCCCTACAG	0.592000													8	237					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42791561	42791561	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:42791561G>T	uc002otf.1	+	3	582	c.542G>T	c.(541-543)cGg>cTg	p.R181L		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCCAAGGAACGGGACTCATCT	0.607000			"""Mis, F, S"""		oligodendroglioma								6	125					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44819672	44819672	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:44819672C>A	uc003cnx.4	+	3	461	c.312C>A	c.(310-312)acC>acA	p.T104T	KIF15_uc010hiq.3_Silent_p.T7T	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	104	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		ATAATGGTACCATCTTTGCAT	0.363000													5	137					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37020937	37020937	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:37020937C>A	uc003jkl.4	+	26	5785	c.5286C>A	c.(5284-5286)tcC>tcA	p.S1762S	NIPBL_uc003jkk.4_Silent_p.S1762S	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1762					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACTTGGCCTCCATGAGGCCGT	0.348000													7	250					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140857427	140857427	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:140857427C>A	uc003lkv.2	+	0	1859	c.1744C>A	c.(1744-1746)Cga>Aga	p.R582R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Silent_p.R582R|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	581	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)			GATGCTGCCTCGAGGTACCTC	0.582000											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	54					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114387899	114387899	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:114387899C>A	uc009zwi.2	-	8	1205	c.1061G>T	c.(1060-1062)cGg>cTg	p.R354L	RBM19_uc001tvn.4_Missense_Mutation_p.R354L|RBM19_uc001tvm.3_Missense_Mutation_p.R354L|TRNA_Pseudo_uc021rec.1_5'Flank	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	354	RRM 2.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding	p.N353D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CATGTACTCCCGGTTGCATTT	0.473000													5	128					0	0	1	0	0
TCP11L1	55346	broad.mit.edu	37	11	33090380	33090380	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:33090380C>A	uc001mud.3	+	8	1702	c.1302C>A	c.(1300-1302)ccC>ccA	p.P434P	TCP11L1_uc009yju.3_Silent_p.P249P|TCP11L1_uc010rei.2_Silent_p.P434P|TCP11L1_uc001mue.3_Silent_p.P434P|TCP11L1_uc001muf.1_Non-coding_Transcript	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	Homo sapiens t-complex 11 (mouse)-like 1 (TCP11L1), transcript variant 1, mRNA.	434										kidney(1)|liver(2)|lung(2)|skin(1)	6						TGGCCAGTCCCGATGACCCCA	0.627000													4	43					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519161	113519161	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:113519161C>A	uc010ljy.1	-	3	2017	c.1986G>T	c.(1984-1986)caG>caT	p.Q662H		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	662					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTGATTTTCCCTGACTTTCCA	0.363000													7	192					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125864230	125864230	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:125864230G>T	uc009zbw.3	-	13	2727	c.2599C>A	c.(2599-2601)Cga>Aga	p.R867R	CDON_uc001qdb.4_Silent_p.R244R|CDON_uc001qdc.4_Silent_p.R867R	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	867	Fibronectin type-III 3.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TCTGTTGGTCGGTAATAGATA	0.383000													4	49					0	0	1	0	0
ZNF10	7556	broad.mit.edu	37	12	133732742	133732742	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:133732742C>A	uc009zzb.3	+	4	1357	c.910C>A	c.(910-912)Cgg>Agg	p.R304R	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Silent_p.R304R	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GTCTTTCAGCCGGAGTTCTCA	0.423000													5	115					0	0	1	0	0
TIMMDC1	51300	broad.mit.edu	37	3	119217641	119217641	+	Silent	SNP	C	C	A	rs148112033		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:119217641C>A	uc003ecn.3	+	0	274	c.61C>A	c.(61-63)Cga>Aga	p.R21R	TIMMDC1_uc003eco.3_Non-coding_Transcript|TIMMDC1_uc003ecp.3_5'Flank	NM_016589	NP_057673	Q9NPL8	TIDC1_HUMAN	Homo sapiens translocase of inner mitochondrial membrane domain containing 1 (TIMMDC1), nuclear gene encoding mitochondrial protein, mRNA.	21						integral to membrane|mitochondrial inner membrane	protein transporter activity			autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						CCTATTTCCCCGAGTCTTTGC	0.587000													7	233					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75108784	75108784	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:75108784G>T	uc002ayt.1	+	2	349	c.347G>T	c.(346-348)cGg>cTg	p.R116L	LMAN1L_uc010bkd.2_Missense_Mutation_p.R44L|LMAN1L_uc010ulo.1_Intron|LMAN1L_uc010bke.1_Missense_Mutation_p.R116L	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	116	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGTACACCCGGGGCAGGGGC	0.662000													4	119					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59274658	59274658	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:59274658C>A	uc001sqr.3	-	12	1752	c.1506G>T	c.(1504-1506)acG>acT	p.T502T	LRIG3_uc009zqh.3_Silent_p.T442T|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	502	Ig-like C2-type 1.					integral to membrane		p.T502T(2)|p.T502M(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTGGCTGAACCGTGATCTGGG	0.423000			T	ROS1	NSCLC								6	185					0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124273857	124273857	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:124273857C>A	uc001lgj.2	+	8	1553	c.1425C>A	c.(1423-1425)ccC>ccA	p.P475P		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	475					proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	p.P475P(2)		endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CAGTGATTCCCGAAGAAATTG	0.507000													4	88					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275162	114275162	+	Silent	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:114275162C>T	uc003ibe.4	+	37	5488	c.5388C>T	c.(5386-5388)gaC>gaT	p.D1796D	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.D1811D	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1763	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.D1796N(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCAAGGAGGACGTGCCAAAAA	0.517000													22	130					0	0	1	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80972337	80972337	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:80972337G>T	uc002kgg.1	-	4	415	c.401C>A	c.(400-402)cCg>cAg	p.P134Q	B3GNTL1_uc002kgf.1_5'UTR	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA.	134							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TACGCTCGACGGGTGCTGAAC	0.468000													4	72					0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160903810	160903810	+	RNA	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:160903810C>A	uc003qtj.2	-	6		c.1074G>T			LPAL2_uc011efy.2_Non-coding_Transcript					Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TGTCCATTACCGTGGTAGCAC	0.478000													6	284					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13616973	13616973	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:13616973G>T	uc003gmz.1	-	2	639	c.522C>A	c.(520-522)ccC>ccA	p.P174P	BOD1L1_uc010idr.1_5'UTR|BOD1L1_uc010ids.1_Non-coding_Transcript	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	174							DNA binding										TCTCATCATCGGGAGCTGTGT	0.423000													7	266					0	0	1	0	0
FNDC8	54752	broad.mit.edu	37	17	33454224	33454224	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:33454224C>A	uc002hix.3	+	1	455	c.373C>A	c.(373-375)Cca>Aca	p.P125T		NM_017559	NP_060029	Q8TC99	FNDC8_HUMAN	Homo sapiens fibronectin type III domain containing 8 (FNDC8), mRNA.	125										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		CAGCTTCTCCCCAATGGCCAA	0.572000													7	210					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187749	37187749	+	RNA	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:37187749C>A	uc002hrd.1	+	0		c.1591C>A								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		CTCCAGAACCCACTACAGAGG	0.498000													6	193					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238274668	238274668	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:238274668C>A	uc002vwl.2	-	11	5796	c.5511G>T	c.(5509-5511)ctG>ctT	p.L1837L	COL6A3_uc002vwo.2_Silent_p.L1631L|COL6A3_uc010znj.1_Silent_p.L1230L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1837	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAATCACATCCAGATTACAAG	0.502000													6	108					0	0	1	0	0
MIER2	54531	broad.mit.edu	37	19	325649	325649	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:325649C>A	uc002lok.1	-	6	650	c.641G>T	c.(640-642)cGg>cTg	p.R214L		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	214	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R214R(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACAGTGCCGGTTCAAGTG	0.567000													4	88					0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35333904	35333904	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:35333904C>A	uc001mwd.3	-	3	994	c.402G>T	c.(400-402)ctG>ctT	p.L134L	SLC1A2_uc021qfx.1_Silent_p.L125L|SLC1A2_uc001mwe.3_Silent_p.L125L|SLC1A2_uc010rev.1_Silent_p.L134L	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	134					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	GAATGACCCCCAGTACTGCAG	0.547000													7	163					0	0	1	0	0
SEPT8	23176	broad.mit.edu	37	5	132098260	132098260	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:132098260C>A	uc003kxr.2	-	4	850	c.612G>T	c.(610-612)atG>atT	p.M204I	SEPT8_uc003kxs.1_Missense_Mutation_p.M204I|SEPT8_uc003kxu.2_Missense_Mutation_p.M204I|SEPT8_uc011cxi.1_Missense_Mutation_p.M202I|SEPT8_uc003kxv.2_Missense_Mutation_p.M202I|SEPT8_uc003kxt.2_Missense_Mutation_p.M144I	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	Homo sapiens septin 8 (SEPT8), transcript variant 1, mRNA.	204					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAACTCGCCCATGATCTTGA	0.532000													5	98					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274259	103274259	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:103274259G>T	uc002tca.3	+	1	668	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	176						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGCTGTGGTAGGGACACTTTG	0.512000													9	334					0	0	1	0	0
KIAA0141	9812	broad.mit.edu	37	5	141305003	141305003	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:141305003G>T	uc003lls.3	+	2	297	c.175G>T	c.(175-177)Ggg>Tgg	p.G59W	KIAA0141_uc003llt.3_Missense_Mutation_p.G59W	NM_001142603	NP_055588	Q14154	DELE_HUMAN	Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	59					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCACGAGCGGGGGTCCAAG	0.577000													5	88					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48771540	48771540	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:48771540C>A	uc003xqi.3	-	47	6269	c.6212G>T	c.(6211-6213)cGg>cTg	p.R2071L	PRKDC_uc003xqj.3_Missense_Mutation_p.R2071L	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2072					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CGTGGGGTCCCGCTGCTCCTG	0.602000								Non-homologous end-joining					6	207					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714373	138714373	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:138714373C>A	uc004cgr.4	-	10	2134	c.2134G>T	c.(2134-2136)Gag>Tag	p.E712*	CAMSAP1_uc004cgq.4_Nonsense_Mutation_p.E602*|CAMSAP1_uc010nbg.3_Nonsense_Mutation_p.E434*	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	712						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AACCTTCCCTCGGTGTCTTCA	0.562000													4	32					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117853018	117853018	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:117853018C>A	uc004bjj.4	-	1	692	c.280G>T	c.(280-282)Ggg>Tgg	p.G94W	TNC_uc010mvf.3_Missense_Mutation_p.G94W|TNC_uc022bmj.1_Missense_Mutation_p.G94W	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	94					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGGTTTTCCCCATCCACTGTG	0.592000													8	391					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56170937	56170937	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:56170937C>A	uc003jqw.4	+	9	2266	c.1765C>A	c.(1765-1767)Cat>Aat	p.H589N		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	589					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GCGTCTTTCCCATGATGTCAG	0.542000													5	126					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1272038	1272038	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:1272038C>A	uc001lta.3	+	30	13987	c.13928C>A	c.(13927-13929)cCg>cAg	p.P4643Q		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4643	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		tcctccatcccggggaccacc	0.622000													4	41					0	0	1	0	0
FAM126A	84668	broad.mit.edu	37	7	22985688	22985688	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:22985688C>A	uc003svm.4	-	10	1341	c.1086G>T	c.(1084-1086)tcG>tcT	p.S362S	FAM126A_uc003svn.4_3'UTR	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	Homo sapiens family with sequence similarity 126, member A (FAM126A), mRNA.	362						cytoplasm|membrane	signal transducer activity	p.S362S(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						TTGATAAACCCGACTGGCTGG	0.413000													4	131					0	0	1	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122459555	122459555	+	Silent	SNP	G	G	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:122459555G>A	uc003efu.2	-	7	1243	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G	HSPBAP1_uc003eft.2_Silent_p.G79G	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA.	368						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TACCTGTTTGGCCCACCTCCA	0.502000													29	296					0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133119045	133119045	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:133119045C>A	uc003epn.1	+	0	256	c.118C>A	c.(118-120)Cca>Aca	p.P40T		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA.	40	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GGAGAGCCCCCCAGCCTCCAG	0.652000													6	77					0	0	1	0	0
TM9SF1	10548	broad.mit.edu	37	14	24663933	24663933	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:24663933C>A	uc010tob.1	-	5	1632	c.998G>T	c.(997-999)cGg>cTg	p.R333L	TM9SF1_uc001wnb.1_Missense_Mutation_p.R98L|TM9SF1_uc010toa.1_Missense_Mutation_p.R11L|TM9SF1_uc001wnc.3_Missense_Mutation_p.R98L	NM_006405	NP_006396	O15321	TM9S1_HUMAN	Homo sapiens transmembrane 9 superfamily member 1 (TM9SF1), transcript variant 1, mRNA.	98					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CACGTTTTCCCGAAAGCGGAT	0.532000													9	359					0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58700883	58700883	+	Splice_Site	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:58700883G>T	uc002iyt.2	+	2	705	c.473_splice	c.e2-1	p.A158_splice	PPM1D_uc010ddm.2_Splice_Site	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	158	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TTATTACAGCGGAATGGCCAA	0.403000													5	223					0	0	1	0	0
C18orf25	147339	broad.mit.edu	37	18	43820011	43820011	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr18:43820011C>A	uc002lbw.3	+	2	1135	c.756C>A	c.(754-756)acC>acA	p.T252T	C18orf25_uc002lbx.3_Intron	NM_145055	NP_659492	Q96B23	CR025_HUMAN	Homo sapiens chromosome 18 open reading frame 25 (C18orf25), transcript variant 1, mRNA.	252										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TGTCTGACACCAACTCTGACC	0.443000													6	138					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18022512	18022512	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr22:18022512C>A	uc010gqw.1	+	14	2608	c.2608C>A	c.(2608-2610)Cgc>Agc	p.R870S	CECR2_uc010gqv.1_Missense_Mutation_p.R731S|CECR2_uc002zml.2_Missense_Mutation_p.R731S	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	914					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GCTCTCCTCCCGCGTCTGCCC	0.617000													5	95					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278629	36278629	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:36278629C>A	uc002obs.2	+	20	2823	c.2679C>A	c.(2677-2679)ccC>ccA	p.P893P	ARHGAP33_uc002obt.2_Silent_p.P890P|ARHGAP33_uc002obv.1_Silent_p.P642P	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	1034	Poly-Pro.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GCTTGTACCCCCTGGGCCCCC	0.667000													5	57					0	0	1	0	0
OR4F17	81099	broad.mit.edu	37	19	110720	110720	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:110720G>T	uc002loc.1	+	0	42	c.42G>T	c.(40-42)caG>caT	p.Q14H	OR4F17_uc002lob.1_Missense_Mutation_p.Q14H	NM_001005240	NP_001005240	Q8NGA8	O4F17_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 17 (OR4F17), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q14H(2)		lung(2)	2		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGATTCTCAGGGACTCCAGA	0.403000													12	609					0	0	1	0	0
NSFL1C	55968	broad.mit.edu	37	20	1433683	1433683	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr20:1433683G>T	uc002wfc.3	-	5	1508	c.640C>A	c.(640-642)Cgc>Agc	p.R214S	NSFL1C_uc021vzq.1_Missense_Mutation_p.R100S|NSFL1C_uc002wfe.3_Missense_Mutation_p.R183S	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	Homo sapiens NSFL1 (p97) cofactor (p47) (NSFL1C), transcript variant 1, mRNA.	214	SEP.					Golgi stack|chromosome|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CACCCTCTGCGGATAGACTCC	0.458000													6	259					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914523	147914523	+	Missense_Mutation	SNP	C	C	A	rs139930720		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:147914523C>A	uc003weu.2	+	18	3670	c.3154C>A	c.(3154-3156)Cgc>Agc	p.R1052S		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1052					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGAGGAGATCCGCTTCAGCTT	0.572000										HNSCC(39;0.1)			5	126					0	0	1	0	0
DUSP8	1850	broad.mit.edu	37	11	1579410	1579410	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:1579410C>A	uc001lts.2	-	4	757	c.629G>T	c.(628-630)cGg>cTg	p.R210L	MOB2_uc001ltq.2_Intron	NM_004420	NP_004411	Q13202	DUS8_HUMAN	Homo sapiens dual specificity phosphatase 8 (DUSP8), mRNA.	210	Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.R210W(1)		endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GATGGGGACCCGCATGAAGCG	0.577000													5	128					0	0	1	0	0
C2orf65	130951	broad.mit.edu	37	2	74803680	74803680	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:74803680C>A	uc002smy.3	-	5	952	c.835G>T	c.(835-837)Ggc>Tgc	p.G279C	C2orf65_uc010ysa.2_Missense_Mutation_p.G279C|C2orf65_uc002smz.2_Missense_Mutation_p.G279C|C2orf65_uc010ffp.3_5'UTR	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	279					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						CTCAAGGAGCCGTCAGCTGTG	0.478000													4	47					0	0	1	0	0
ERO1LB	56605	broad.mit.edu	37	1	236445067	236445067	+	Frame_Shift_Del	DEL	C	-	-			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:236445067delC	uc001hxt.3	-	0	273	c.17delG	c.(16-18)cgcfs	p.R6fs	ERO1LB_uc010pxt.1_Frame_Shift_Del_p.R6fs	NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	Homo sapiens ERO1-like beta (S. cerevisiae) (ERO1LB), mRNA.	6					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GCCTGCCCGGCGGACCCCTTG	0.736													2	4	---	---	---	---					
VENTXP7	391518	broad.mit.edu	37	3	21447901	21447902	+	RNA	INS	-	CC	CC	rs143568999	by1000genomes	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:21447901_21447902insCC	uc003ccd.3	+	0		c.684_685insCC								Homo sapiens VENT homeobox pseudogene 7 (VENTXP7), non-coding RNA.																		CTGGCATACCACCCCCCACGCC	0.663													4	4	---	---	---	---					
CD93	22918	broad.mit.edu	37	20	23066789	23066791	+	In_Frame_Del	DEL	AGC	-	-			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr20:23066789_23066791delAGC	uc002wsv.3	-	0	187_189	c.39_41delGCT	c.(37-42)ctgctc>ctc	p.13_14LL>L		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	13					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTGGGTcaggagcagcagcagca	0.709													3	5	---	---	---	---					
FAM83D	81610	broad.mit.edu	37	20	37555322	37555323	+	In_Frame_Ins	INS	-	GCG	GCG			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr20:37555322_37555323insGCG	uc002xjg.3	+	0	368_369	c.327_328insGCG	c.(325-330)insGCG	p.116_117insA	FAM83D_uc002xjf.3_In_Frame_Ins_p.116_117insA	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	86					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GAGAGGAGGGCgcggcggcggc	0.718													2	4	---	---	---	---					
