Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SAMD9L	219285	broad.mit.edu	37	7	92762118	92762118	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:92762118G>A	uc003umh.1	-	4	4383	c.3167C>T	c.(3166-3168)tCc>tTc	p.S1056F	SAMD9L_uc003umj.1_Missense_Mutation_p.S1056F|SAMD9L_uc003umi.1_Missense_Mutation_p.S1056F|SAMD9L_uc010lfb.1_Missense_Mutation_p.S1056F|SAMD9L_uc003umk.1_Missense_Mutation_p.S1056F|SAMD9L_uc010lfc.1_Missense_Mutation_p.S1056F|SAMD9L_uc010lfd.1_Missense_Mutation_p.S1056F|SAMD9L_uc022ahh.1_Missense_Mutation_p.S1056F	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1056										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CATTAATGGGGAAAACAGAGT	0.393000														45			44		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7122765	7122765	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:7122765G>A	uc002mgd.1	-	18	3498	c.3389C>T	c.(3388-3390)cCc>cTc	p.P1130L	INSR_uc002mge.1_Missense_Mutation_p.P1118L	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1130	Protein kinase.				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGGGTAGGGGGAGGGCGGCC	0.582000														30			19		0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56352921	56352921	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:56352921G>A	uc002ivu.1	-	7	1524	c.1347C>T	c.(1345-1347)atC>atT	p.I449I		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	449					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TGGCCCCCACGATCTTCCGGG	0.602000														25			9		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152469313	152469313	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:152469313G>A	uc021zhb.1	-	134	25066	c.24843C>T	c.(24841-24843)atC>atT	p.I8281I	SYNE1_uc003qos.4_Silent_p.I2805I|SYNE1_uc003qot.4_Silent_p.I8210I|SYNE1_uc003qou.4_Silent_p.I8281I|SYNE1_uc011eez.2_Silent_p.I483I|SYNE1_uc003qoq.4_Silent_p.I483I|SYNE1_uc003qor.4_Silent_p.I1181I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8281					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)		ACTCCAGGGGGATGGAGTCCA	0.597000										HNSCC(10;0.0054)				15			9		0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32398181	32398181	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr18:32398181C>T	uc010dmn.1	+	6	764	c.763C>T	c.(763-765)Cgc>Tgc	p.R255C	DTNA_uc002kxu.2_Missense_Mutation_p.R255C|DTNA_uc010xbx.2_Intron|DTNA_uc002kxv.4_Missense_Mutation_p.R255C|DTNA_uc002kxw.2_Missense_Mutation_p.R255C|DTNA_uc002kxx.2_Missense_Mutation_p.R255C|DTNA_uc002kxz.2_Missense_Mutation_p.R255C|DTNA_uc002kxy.2_Missense_Mutation_p.R255C|DTNA_uc010dmj.3_Missense_Mutation_p.R255C|DTNA_uc002kyb.4_Missense_Mutation_p.R255C|DTNA_uc010dml.3_Missense_Mutation_p.R255C|DTNA_uc010dmm.3_Missense_Mutation_p.R255C|DTNA_uc010xby.1_Missense_Mutation_p.R5C|DTNA_uc021uiq.1_Missense_Mutation_p.R5C|DTNA_uc021uir.1_Missense_Mutation_p.R5C|DTNA_uc002kyd.4_5'Flank|DTNA_uc010dmo.3_5'Flank|DTNA_uc002kye.3_5'Flank|DTNA_uc010xca.2_5'Flank|DTNA_uc010xbz.2_5'Flank	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	255	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GATGGGATTTCGCTACCGATG	0.468000														17			26		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116381005	116381005	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:116381005G>A	uc003vij.3	+	4	1814	c.1627G>A	c.(1627-1629)Gac>Aac	p.D543N	MET_uc022akk.1_Missense_Mutation_p.D543N|MET_uc010lkh.3_Missense_Mutation_p.D543N|MET_uc011knc.1_Missense_Mutation_p.D543N|MET_uc011knd.2_Missense_Mutation_p.D543N|MET_uc011knf.2_Missense_Mutation_p.D543N|MET_uc011kne.2_Missense_Mutation_p.D515N|MET_uc011kng.1_Missense_Mutation_p.D543N|MET_uc011knh.1_Missense_Mutation_p.D543N|MET_uc011kni.2_Missense_Mutation_p.D543N|MET_uc011knj.2_Missense_Mutation_p.D113N|MET_uc011knb.1_Missense_Mutation_p.D543N	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	543					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTGGTGCCACGACAAATGTGT	0.527000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					109			16		0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1816055	1816055	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:1816055C>T	uc010uvl.2	+	20	2661	c.2541C>T	c.(2539-2541)atC>atT	p.I847I	MAPK8IP3_uc002cmk.3_Silent_p.I846I|MAPK8IP3_uc002cml.3_Silent_p.I836I|MAPK8IP3_uc021tah.1_Silent_p.I840I	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	846					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TGGCCGGTATCACCCTGGTGG	0.692000														28			23		0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125557560	125557560	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr10:125557560T>C	uc001lhk.1	-	5	1146	c.821A>G	c.(820-822)aAc>aGc	p.N274S	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	274	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGACTGAGGGTTTATGCGGAT	0.527000														2			21		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40033394	40033394	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr20:40033394C>T	uc002xka.1	-	36	8165	c.7987G>A	c.(7987-7989)Gac>Aac	p.D2663N	CHD6_uc002xjz.1_Missense_Mutation_p.D200N	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2663				D -> G (in Ref. 1; AAK56405).	chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTGGGGTTGTCCCCCTTTGTC	0.597000														48			48		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35823827	35823827	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:35823827G>A	uc010edt.3	+	3	496	c.412_splice	c.e3+1	p.E138_splice	CD22_uc010edu.3_Splice_Site_p.E138_splice|CD22_uc010edv.3_Splice_Site_p.E138_splice|CD22_uc002nzb.4_Splice_Site_p.E138_splice|CD22_uc010xst.2_Splice_Site_p.L3_splice	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	138	Ig-like V-type.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CAATGTCTCTGGTAAGGCCTT	0.572000														19			8		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814764	137814764	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:137814764C>T	uc002tva.1	+	1	821	c.821C>T	c.(820-822)tCg>tTg	p.S274L	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.S164L	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGGCAGGTTTCGTGTACAAGA	0.363000														13			10		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62611258	62611258	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:62611258G>A	uc003peg.2	-	4	749	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TGTTCCTGACGAATTTCATCA	0.403000														13			9		0	0	1	0	0
EIF3G	8666	broad.mit.edu	37	19	10227829	10227829	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:10227829G>A	uc002mnd.3	-	5	400	c.336C>T	c.(334-336)ccC>ccT	p.P112P		NM_003755	NP_003746	O75821	EIF3G_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit G (EIF3G), mRNA.	112						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			TGGGTCCGGGGGGGTCAAACT	0.602000														14			9		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747584	143747584	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:143747584C>T	uc011ktw.2	+	0	90	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTGGGCTTTTCTCCCTGTTAT	0.512000														50			47		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732825	152732825	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:152732825G>A	uc001fal.1	+	1	819	c.761G>A	c.(760-762)aGa>aAa	p.R254K	KPRP_uc021ozf.1_Missense_Mutation_p.R254K	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	254						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCACCAGCAGATGCCTTCCT	0.612000														28			31		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22207308	22207308	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:22207308G>A	uc009vqd.3	-	14	1882	c.1842C>T	c.(1840-1842)tcC>tcT	p.S614S	HSPG2_uc001bfj.3_Silent_p.S613S	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	613	Laminin IV type A 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGTAACGCAGGGAGCCGCCAT	0.642000														1			6		0	0	1	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56779338	56779338	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:56779338G>A	uc003dih.2	-	9	971	c.861C>T	c.(859-861)ttC>ttT	p.F287F	ARHGEF3_uc011bew.1_Silent_p.F255F|ARHGEF3_uc011bev.1_Silent_p.F226F|ARHGEF3_uc003dif.2_Silent_p.F261F|ARHGEF3_uc003dig.2_Silent_p.F255F|ARHGEF3_uc010hmy.1_Silent_p.F53F|ARHGEF3_uc003dii.2_Silent_p.F255F	NM_001128615	NP_001122087	Q9NR81	ARHG3_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), transcript variant 1, mRNA.	255	DH.				Rho protein signal transduction|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GAATATCGAGGAAATTCCAGA	0.468000														48			71		0	0	1	0	0
C4orf37	285555	broad.mit.edu	37	4	98633937	98633937	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:98633937C>T	uc003htt.2	-	9	1323	c.1233G>A	c.(1231-1233)agG>agA	p.R411R		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	411										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		GGCAAGATTTCCTTAAAACAG	0.338000														13			16		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144835114	144835114	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:144835114G>A	uc003qkt.3	+	34	5106	c.5014G>A	c.(5014-5016)Gaa>Aaa	p.E1672K		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	1672	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)		TTATCAAGCTGAAGCTCTATT	0.373000														13			14		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24416597	24416597	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:24416597C>T	uc001bin.4	-	12	1607	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N	MYOM3_uc001bim.4_Missense_Mutation_p.D139N|MYOM3_uc001bio.3_Missense_Mutation_p.D482N|MYOM3_uc001bip.1_Missense_Mutation_p.D139N	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	482										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTTCCCAGATCAAAGGGGATC	0.572000														28			12		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86308032	86308032	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:86308032G>A	uc002sqs.3	-	8	1372	c.993C>T	c.(991-993)gtC>gtT	p.V331V		NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	331					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						CATCCTTCATGACAGCCTGCA	0.502000														36			8		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11418775	11418775	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:11418775G>A	uc021zzo.1	-	25	4975	c.4723C>T	c.(4723-4725)Cgg>Tgg	p.R1575W	THSD7A_uc021zzn.1_Missense_Mutation_p.R1573W|BC040327_uc003ssb.3_Intron|THSD7A_uc003ssd.4_Missense_Mutation_p.R79W	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1575						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)		TGTACAGCCCGACTGGTTTTC	0.512000										HNSCC(18;0.044)				25			17		0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77987620	77987620	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:77987620G>T	uc001dhn.3	+	11	1757	c.1420G>T	c.(1420-1422)Gga>Tga	p.G474*	AK5_uc001dho.3_Nonsense_Mutation_p.G448*	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	474					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GGAAGAGTTCGGACGCAGGGT	0.527000														7			6		2.0095e-06	2.0209e-06	1	1	0
SLC12A5	57468	broad.mit.edu	37	20	44681692	44681692	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr20:44681692G>A	uc010zxl.1	+	18	2619	c.2543G>A	c.(2542-2544)aGc>aAc	p.S848N	SLC12A5_uc002xrb.2_Missense_Mutation_p.S825N	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	848					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCTGAGGGCAGCATCGACGTT	0.577000														19			36		0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134427838	134427838	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:134427838A>G	uc022ceq.1	-	1	619	c.229T>C	c.(229-231)Tgg>Cgg	p.W77R	DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Missense_Mutation_p.W77R	NM_007131	NP_009062	P51815	ZN75D_HUMAN	Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.	77	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGCCTCAGCCACTGATGGCAC	0.522000														38			28		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227896959	227896959	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:227896959C>T	uc021vxr.1	-	37	3712	c.3611G>A	c.(3610-3612)gGa>gAa	p.G1204E	COL4A4_uc021vxs.1_Missense_Mutation_p.G1204E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1204	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCAGGTATTCCCACTGGACC	0.507000														15			11		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950720	198950720	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:198950720C>T	uc010fsp.3	+	1	2877	c.2479C>T	c.(2479-2481)Ccc>Tcc	p.P827S	PLCL1_uc002uuv.4_Missense_Mutation_p.P748S	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	827					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TCGGCATGTTCCCCTGCGTTC	0.453000														26			25		0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72937553	72937553	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:72937553G>A	uc010wrr.2	+	1	139	c.139G>A	c.(139-141)Gag>Aag	p.E47K	OTOP3_uc010wrq.2_Missense_Mutation_p.E29K	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	47						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CCCGGAGAAGGAGAACCGAGT	0.637000														10			13		0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113642835	113642835	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:113642835T>C	uc001edf.1	+	9	1373	c.1175T>C	c.(1174-1176)aTc>aCc	p.I392T	LRIG2_uc009wgn.1_Missense_Mutation_p.I289T	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	392						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TATTTCAGAATCTTACAAGGA	0.303000														13			9		0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154595636	154595636	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:154595636C>T	uc003wlk.3	+	13	1599	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	DPP6_uc003wli.3_Silent_p.I426I|DPP6_uc003wlm.3_Silent_p.I428I|DPP6_uc011kvq.2_Silent_p.I383I	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	490					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGACCAAGATCCTAGCCTACG	0.522000														6			14		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179393863	179393863	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:179393863C>T	uc021vsy.1	-	308	99136	c.98911G>A	c.(98911-98913)Gaa>Aaa	p.E32971K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E26666K|TTN_uc021vta.1_Missense_Mutation_p.E26599K|TTN_uc021vtb.1_Missense_Mutation_p.E26474K|TTN_uc002umq.3_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33898							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)			TGGGAAATTTCCTCTTGGACA	0.378000														18			4		0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30955199	30955199	+	Missense_Mutation	SNP	G	A	A	rs55803740		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:30955199G>A	uc003nsh.2	+	1	1498	c.1247G>A	c.(1246-1248)gGg>gAg	p.G416E	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.G400E	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	416	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GTGTCCAGTGGGGCCAGCACT	0.622000														222			30		0	0	1	0	0
CCNDBP1	23582	broad.mit.edu	37	15	43477730	43477730	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:43477730C>T	uc001zqv.3	+	0	265	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	CCNDBP1_uc021sjs.1_5'UTR|CCNDBP1_uc010udl.2_5'UTR|CCNDBP1_uc021sjt.1_5'UTR|CCNDBP1_uc021sju.1_Non-coding_Transcript|CCNDBP1_uc010bdb.3_5'UTR|CCNDBP1_uc001zqy.3_5'Flank	NM_012142	NP_036274	O95273	CCDB1_HUMAN	Homo sapiens cyclin D-type binding-protein 1 (CCNDBP1), transcript variant 1, mRNA.	12	Interaction with RPLP0.|Interaction with TCF3.|Required for interaction with CCND1.				cell cycle	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		AGCCGCAGTCCCCACCCTGGC	0.677000														3			4		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48245080	48245080	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:48245080A>T	uc002eff.1	-	9	1737	c.1387T>A	c.(1387-1389)Tat>Aat	p.Y463N	ABCC11_uc002efg.1_Missense_Mutation_p.Y463N|ABCC11_uc002efh.1_Missense_Mutation_p.Y463N|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.	463						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)				GTCTGGACATAGAAAACAGGG	0.483000														64			51		0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642822	127642822	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:127642822G>A	uc010hsr.3	+	0	921	c.918G>A	c.(916-918)cgG>cgA	p.R306R	KBTBD12_uc003ejy.4_Intron|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Intron|KBTBD12_uc003ejz.2_Silent_p.R306R	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	306										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTGTATCACGGAAAACCTATT	0.418000														37			15		0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128851581	128851581	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:128851581G>A	uc003vor.3	+	10	2186	c.1906G>A	c.(1906-1908)Gat>Aat	p.D636N	SMO_uc003vos.3_Missense_Mutation_p.D311N	NM_005631	NP_005622	Q99835	SMO_HUMAN	Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.	636					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACTGCCCCAGGATATTTCTGT	0.582000			Mis		skin basal cell									89			25		0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108475975	108475975	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:108475975G>A	uc003dxh.2	-	0	156	c.58C>T	c.(58-60)Ccg>Tcg	p.P20S		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	20			P -> L (in dbSNP:rs11708527).		cell proliferation	extracellular region	hormone activity	p.P20P(1)		endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GTACTCCCCGGGTTGATCAGC	0.532000														15			7		0	0	1	0	0
CEACAM19	56971	broad.mit.edu	37	19	45179669	45179670	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:45179669_45179670GG>AA	uc002ozo.4	+	2	1031_1032	c.551_552GG>AA	c.(550-552)agg>aAA	p.R184K	CEACAM19_uc002ozp.4_Missense_Mutation_p.R184K	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 19 (CEACAM19), transcript variant 2, mRNA.	184						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CTGGTGACAAGGAACTGGAGGG	0.594000														45			14		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564298	176564298	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:176564298C>T	uc001gkz.3	+	2	2722	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	PAPPA2_uc001gky.1_Missense_Mutation_p.R520W|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	520	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R520G(3)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGGCCCCTTCGGGGAGAGAA	0.537000														18			16		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781738	128781738	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:128781738C>T	uc001qet.3	+	1	884	c.570C>T	c.(568-570)atC>atT	p.I190I	KCNJ5_uc009zck.3_Silent_p.I190I|KCNJ5_uc001qew.3_Silent_p.I190I	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	190					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TTGTCAAGATCAGCCAGCCCA	0.557000														37			33		0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530463	5530463	+	Missense_Mutation	SNP	G	A	A	rs146563055		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:5530463G>A	uc021qcw.1	-	0	326	c.326C>T	c.(325-327)aCc>aTc	p.T109I	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_Missense_Mutation_p.T109I	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	109										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGCCCTGGGTAGGGACAGA	0.607000														11			13		0	0	1	0	0
PRKCI	5584	broad.mit.edu	37	3	169940535	169940535	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:169940535C>T	uc003fgs.2	+	0	316	c.78C>T	c.(76-78)gtC>gtT	p.V26V		NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	26	OPR.|Regulatory domain.|Required for interaction with RAB2.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CCCACCAGGTCCGGGTGAAAG	0.706000														11			6		0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845891	106845891	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:106845891C>T	uc022cce.1	+	0	2257	c.1889C>T	c.(1888-1890)aCc>aTc	p.T630I				Q5JV73	FRPD3_HUMAN	Homo sapiens mRNA for KIAA1817 protein, partial cds.	1574						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GTGAGCAGGACCCTGCAGGTG	0.612000														32			23		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657556	143657556	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:143657556C>T	uc003wds.1	+	0	537	c.493C>T	c.(493-495)Cag>Tag	p.Q165*		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TATCACCTTTCAGCTGCCCAT	0.522000														40			27		0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45267295	45267296	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:45267295_45267296CC>TT	uc001cmn.3	+	3	537_538	c.437_438CC>TT	c.(436-438)tcc>tTT	p.S146F		NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	Homo sapiens polo-like kinase 3 (PLK3), mRNA.	146	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TCTCTGCAGTCCCTGGCCCACA	0.639000														35			6		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143088564	143088564	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:143088564C>T	uc003wcz.3	-	17	3004	c.2917G>A	c.(2917-2919)Gga>Aga	p.G973R		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	973	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TCCTTGAATCCCTGAATACTG	0.612000														23			21		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734188	92734188	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:92734188G>A	uc003umf.3	-	2	1493	c.1223C>T	c.(1222-1224)tCa>tTa	p.S408L	SAMD9_uc003umg.3_Missense_Mutation_p.S408L|SAMD9_uc022ahg.1_Missense_Mutation_p.S408L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	408						cytoplasm		p.S408L(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTCATAGTATGAATTATCTAA	0.318000														28			13		0	0	1	0	0
MAOA	4128	broad.mit.edu	37	X	43571159	43571159	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:43571159G>A	uc004dfy.3	+	3	528	c.347G>A	c.(346-348)tGg>tAg	p.W116*	MAOA_uc011mkw.2_5'UTR	NM_000240	NP_000231	P21397	AOFA_HUMAN	Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, mRNA.	116					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	CCACCAGTATGGAATCCCATT	0.378000														61			16		0	0	1	0	0
FLAD1	80308	broad.mit.edu	37	1	154962153	154962153	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:154962153T>C	uc001fgf.2	+	2	1636	c.1235T>C	c.(1234-1236)cTc>cCc	p.L412P	FLAD1_uc001fgd.2_Missense_Mutation_p.L412P|FLAD1_uc001fge.2_Missense_Mutation_p.L315P|FLAD1_uc001fgg.2_Missense_Mutation_p.L315P|FLAD1_uc001fgh.1_Intron	NM_025207	NP_958800	Q8NFF5	FAD1_HUMAN	Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1), transcript variant 1, mRNA.	412	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGCACTGCCCTCCTGCACCTC	0.592000														45			36		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52946789	52946789	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr18:52946789G>A	uc002lga.3	-	9	1014	c.954C>T	c.(952-954)ttC>ttT	p.F318F	TCF4_uc021ukg.1_Silent_p.F56F|TCF4_uc021ukh.1_Silent_p.F56F|TCF4_uc002lfw.4_Silent_p.F56F|TCF4_uc010xdu.1_Silent_p.F86F|TCF4_uc010xdv.1_Silent_p.F86F|TCF4_uc021uki.1_Silent_p.F145F|TCF4_uc002lfx.2_Silent_p.F145F|TCF4_uc010xdw.1_Silent_p.F86F|TCF4_uc002lfy.2_Silent_p.F174F|TCF4_uc010xdx.1_Silent_p.F192F|TCF4_uc021ukj.1_Silent_p.F156F|TCF4_uc021ukk.1_Silent_p.F156F|TCF4_uc021ukl.1_Silent_p.F214F|TCF4_uc002lfz.2_Silent_p.F216F|TCF4_uc010dph.1_Silent_p.F216F|TCF4_uc010dpi.3_Silent_p.F222F|TCF4_uc010xdy.1_Silent_p.F192F|TCF4_uc002lgc.4_Silent_p.F137F|TCF4_uc021ukm.1_Missense_Mutation_p.S101L	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	216					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TACCTTGCATGAAGAAGGAGC	0.498000														9			12		0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248344203	248344203	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:248344203G>A	uc010pzf.2	+	0	916	c.916G>A	c.(916-918)Gga>Aga	p.G306R		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G306V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GAAGATCTTAGGAAAGGGCAA	0.403000														123			67		0	0	1	0	0
OR5B21	219968	broad.mit.edu	37	11	58275110	58275110	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:58275110G>A	uc010rki.2	-	0	469	c.469C>T	c.(469-471)Cat>Tat	p.H157Y		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA.	157					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)				CCTGCTGCATGGATAGAGGCA	0.502000														8			8		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898903	175898903	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:175898903C>T	uc003iuc.3	+	4	2897	c.2227C>T	c.(2227-2229)Cct>Tct	p.P743S	ADAM29_uc003iud.3_Missense_Mutation_p.P743S|ADAM29_uc010irr.3_Missense_Mutation_p.P743S|ADAM29_uc011cki.2_Missense_Mutation_p.P743S|ADAM29_uc021xuo.1_Missense_Mutation_p.P743S	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	743	9 X 9 AA approximate repeats.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCAGAGTCAACCTCCTGTGAC	0.527000														45			34		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38950520	38950520	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:38950520C>T	uc021wvy.1	-	8	1466	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	423					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGCTGGGCTTCCTGAAACATC	0.512000														60			29		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1457568	1457568	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:1457568C>T	uc002qwr.3	+	5	671	c.585C>T	c.(583-585)ttC>ttT	p.F195F	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.F195F|TPO_uc002qwx.3_Silent_p.F195F|TPO_uc002qwu.3_Silent_p.F195F|TPO_uc010yio.2_Silent_p.F195F|TPO_uc010yip.2_Silent_p.F195F	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	195					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACCCCGGCTTCTTGTACAACG	0.602000														15			20		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453886	84453886	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr13:84453886G>A	uc001vlk.3	-	0	2643	c.1757C>T	c.(1756-1758)tCg>tTg	p.S586L		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	586						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TAACGTGGGCGAGATCCTAGC	0.542000														9			8		0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48239033	48239033	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:48239033G>A	uc010rhs.2	+	0	672	c.672G>A	c.(670-672)agG>agA	p.R224R		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R224T(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCAACTTGAGGAACCATTCTG	0.473000														11			6		0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30137031	30137031	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:30137031A>G	uc010jrx.3	+	3	1201	c.722A>G	c.(721-723)aAc>aGc	p.N241S		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	241					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GTCAGAGTCAACCAGAGCAGG	0.478000														17			11		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183095762	183095762	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:183095762C>T	uc002uos.3	-	5	646	c.562G>A	c.(562-564)Gat>Aat	p.D188N	PDE1A_uc010zfp.1_Missense_Mutation_p.D84N|PDE1A_uc002uoq.1_Missense_Mutation_p.D188N|PDE1A_uc010zfq.1_Missense_Mutation_p.D188N|PDE1A_uc002uor.3_Missense_Mutation_p.D172N|PDE1A_uc002uou.3_Missense_Mutation_p.D154N	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	188					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.D188N(3)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTGATAAGATCATATCTGGTA	0.338000														29			30		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216298055	216298055	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:216298055G>A	uc002vfa.3	-	2	673	c.407C>T	c.(406-408)aCc>aTc	p.T136I	FN1_uc002vfc.3_Missense_Mutation_p.T136I|FN1_uc002vfe.3_Missense_Mutation_p.T136I|FN1_uc002vff.3_Missense_Mutation_p.T136I|FN1_uc002vfg.3_Missense_Mutation_p.T136I|FN1_uc002vfh.3_Missense_Mutation_p.T136I|FN1_uc002vfi.3_Missense_Mutation_p.T136I|FN1_uc002vfj.3_Missense_Mutation_p.T136I|FN1_uc002vfb.3_Missense_Mutation_p.T136I|FN1_uc002vfl.3_Missense_Mutation_p.T136I	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	136	Fibrin- and heparin-binding 1.|Fibronectin type-I 2.				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)	ACTTGCGATGGTACAGCTTAT	0.443000														56			39		0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75157198	75157198	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:75157198C>T	uc003yae.3	-	3	1511	c.1471G>A	c.(1471-1473)Ggg>Agg	p.G491R	JPH1_uc003yaf.3_Missense_Mutation_p.G491R|JPH1_uc003yag.1_Missense_Mutation_p.G355R	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	491					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			AGTCTCGCCCCTGAGCTGGGG	0.562000														55			78		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138683967	138683967	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr9:138683967C>T	uc011mdq.2	+	30	3742	c.3668C>T	c.(3667-3669)tCg>tTg	p.S1223L	KCNT1_uc011mdr.2_Missense_Mutation_p.S1071L|KCNT1_uc010nbf.3_Missense_Mutation_p.S1199L	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	1223						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CACAAGCTGTCGTCCTGCAAC	0.667000														0			9		0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64603126	64603126	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:64603126C>T	uc001dbj.2	+	4	956	c.557C>T	c.(556-558)aCc>aTc	p.T186I	ROR1_uc001dbi.4_Missense_Mutation_p.T186I|AK096291_uc001dbl.3_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	186	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GGCAACCGCACCGTCTATATG	0.388000														57			19		0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115544060	115544060	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:115544060C>T	uc003ibs.2	+	1	546	c.24C>T	c.(22-24)ttC>ttT	p.F8F	UGT8_uc003ibt.2_Silent_p.F8F|UGT8_uc011cge.1_Non-coding_Transcript	NM_001128174	NP_003351	Q16880	CGT_HUMAN	Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.	8					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CTCCATATTTCATTCTCCTGT	0.383000														16			18		0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151474795	151474795	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:151474795G>A	uc003ezc.3	+	4	739	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_5'UTR	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	207						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GAATGATGCTGAAATAAAACA	0.318000														11			18		0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97984035	97984035	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:97984035C>T	uc003dsi.1	+	0	907	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P303R(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTTATTAAATCCCATGATCTA	0.383000														14			15		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71354291	71354291	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:71354291G>A	uc010dfm.3	-	39	5520	c.5520C>T	c.(5518-5520)atC>atT	p.I1840I	SDK2_uc002jjt.4_Silent_p.I980I|SDK2_uc010dfn.2_Silent_p.I1519I	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1840	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGTGAATGGCGATGGCAGAGC	0.657000														87			48		0	0	1	0	0
MDFIC	29969	broad.mit.edu	37	7	114619811	114619812	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:114619811_114619812CC>TT	uc003vhf.3	+	3	1058_1059	c.468_469CC>TT	c.(466-471)tcccaa>tcTTaa	p.Q157*		NM_001166345	NP_001159817	Q9P1T7	MDFIC_HUMAN	Homo sapiens MyoD family inhibitor domain containing (MDFIC), transcript variant 1, mRNA.	157					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	Tat protein binding|cyclin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CTGTCTTTTCCCAAAAGACAGG	0.337000														21			21		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3889456	3889456	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:3889456G>A	uc022aqr.1	-	3	971	c.581C>T	c.(580-582)tCg>tTg	p.S194L		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	194	Sushi 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAAGTCCCACGATGCACCATT	0.542000														5			12		0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	49710963	49710963	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:49710963G>A	uc002itv.4	-	8	1592	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L	CA10_uc002itw.4_Silent_p.L280L|CA10_uc002itx.4_Silent_p.L280L|CA10_uc002ity.4_Silent_p.L280L|CA10_uc002itz.2_Silent_p.L280L	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	280					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CTCATGCTCAGAAAGATCTGA	0.507000														12			22		0	0	1	0	0
B3GALTL	145173	broad.mit.edu	37	13	31850896	31850896	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr13:31850896C>T	uc010aaz.3	+	9	948	c.838C>T	c.(838-840)Cat>Tat	p.H280Y	B3GALTL_uc001utn.4_Non-coding_Transcript	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	Homo sapiens beta 1,3-galactosyltransferase-like (B3GALTL), mRNA.	280					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CAAGAAATTTCATGGTGACAG	0.313000														20			7		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89990063	89990063	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:89990063C>T	uc003kju.3	+	32	7586	c.7490C>T	c.(7489-7491)gCt>gTt	p.A2497V	GPR98_uc003kjt.3_Missense_Mutation_p.A203V|GPR98_uc003kjv.3_Missense_Mutation_p.A97V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2497					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTGGTCAGGCTGTGGCTGGG	0.468000														36			22		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631770	122631770	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:122631770T>C	uc003efz.1	-	17	2949	c.2645A>G	c.(2644-2646)aAc>aGc	p.N882S	SEMA5B_uc011bju.1_Missense_Mutation_p.N824S|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.N882S|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	882	TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGGCTCCGGGTTAGTGCACGT	0.711000														46			7		0	0	1	0	0
RPS26	6231	broad.mit.edu	37	12	56437912	56437912	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:56437912C>T	uc001sjf.3	+	3	587	c.322C>T	c.(322-324)Cca>Tca	p.P108S		NM_001029	NP_001020	P62854	RS26_HUMAN	Homo sapiens ribosomal protein S26 (RPS26), mRNA.	108					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGTGCTGCCCCACGTCCCCC	0.428000														64			17		0	0	1	0	0
ZNF77	58492	broad.mit.edu	37	19	2934718	2934719	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:2934718_2934719GG>AA	uc002lws.4	-	3	537_538	c.406_407CC>TT	c.(406-408)cct>TTt	p.P136F		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	Homo sapiens zinc finger protein 77 (ZNF77), mRNA.	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTTCGGTAGGGTAACTCTTG	0.505000														77			19		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10358358	10358358	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:10358358C>T	uc002gmn.3	-	20	2446	c.2335G>A	c.(2335-2337)Gaa>Aaa	p.E779K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	779	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E778K(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTCGCATTTCCTCTAGAGTT	0.418000														35			16		0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117297465	117297465	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:117297465C>T	uc001egu.4	+	1	303	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	CD2_uc010owz.1_Silent_p.L92L|CD2_uc010oxa.1_Silent_p.L92L	NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	92	Ig-like V-type.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity	p.L92L(1)		NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AAATGGAACTCTGAAAATTAA	0.289000														12			18		0	0	1	0	0
C11orf88	399949	broad.mit.edu	37	11	111385573	111385573	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:111385573G>A	uc009yyd.3	+	0	64	c.64G>A	c.(64-66)Gga>Aga	p.G22R	BTG4_uc001plj.3_5'Flank|BTG4_uc001plk.3_5'Flank|C11orf88_uc001plo.1_Missense_Mutation_p.G22R|C11orf88_uc001pln.4_Missense_Mutation_p.G22R	NM_207430	NP_997313	Q6PI97	CK088_HUMAN	Homo sapiens chromosome 11 open reading frame 88 (C11orf88), transcript variant 1, mRNA.	22								p.P21P(1)		endometrium(1)|large_intestine(3)|lung(2)	6						GTGCCCCCCGGGATTACTGGT	0.567000											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			13		0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79664553	79664553	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:79664553G>A	uc011dyp.2	-	34	4254	c.4028C>T	c.(4027-4029)cCg>cTg	p.P1343L	PHIP_uc003piq.3_Missense_Mutation_p.P368L|PHIP_uc003pir.3_Missense_Mutation_p.P1344L|PHIP_uc003pio.4_Missense_Mutation_p.P230L	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	1344	Bromo 2.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	p.P1344L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GAGATCTACCGGCTGACGGAA	0.348000														9			6		0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941282	13941282	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:13941282G>A	uc002mxh.1	+	12	2577	c.2388G>A	c.(2386-2388)gcG>gcA	p.A796A	ZSWIM4_uc010xng.1_Silent_p.A719A	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	796							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TGGACGCGGCGGCCGGCGGCC	0.697000														75			64		0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81242078	81242078	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:81242078C>T	uc001szj.1	-	2	418	c.225G>A	c.(223-225)acG>acA	p.T75T	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	75	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TAACAGTTATCGTTTCATGCA	0.323000														6			12		0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206821195	206821195	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:206821195G>A	uc001hej.3	+	2	820	c.652G>A	c.(652-654)Ggg>Agg	p.G218R	DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Missense_Mutation_p.G198R	NM_003582	NP_003573	O43781	DYRK3_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA.	218	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TATTGGCAAGGGGAGTTTTGG	0.478000														38			18		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23703323	23703324	+	Missense_Mutation	DNP	GG	AA	AA	rs139320105		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:23703323_23703324GG>AA	uc002dma.4	-	18	2649_2650	c.2480_2481CC>TT	c.(2479-2481)ccc>cTT	p.P827L	ERN2_uc010bxp.3_Missense_Mutation_p.P775L	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	779	KEN.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TCCAAAAGAAGGGGTGGGCCAG	0.594000														142			144		0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90661173	90661173	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:90661173C>T	uc011eab.2	-	6	1526	c.652G>A	c.(652-654)Gag>Aag	p.E218K	BACH2_uc003pnw.3_Missense_Mutation_p.E218K|BACH2_uc010kch.3_Missense_Mutation_p.E218K	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	218						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TCTGAGCTCTCCTTGGTGTCT	0.537000														27			23		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471445	146471445	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:146471445C>T	uc003weu.2	+	1	696	c.180C>T	c.(178-180)ccC>ccT	p.P60P		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	60	F5/8 type C.				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	p.S59F(1)|p.P60S(1)		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)			GCTATTCTCCCGGCTATGCCA	0.383000										HNSCC(39;0.1)				11			28		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768340	31768340	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:31768340C>T	uc002nsy.4	-	1	2424	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	787					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ATGGGCTGGTCGTTGTTGACG	0.597000														31			26		0	0	1	0	0
ST13P4	145165	broad.mit.edu	37	13	50746747	50746747	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr13:50746747C>T	uc001vej.3	+	0	594	c.523C>T	c.(523-525)Cct>Tct	p.P175S	BCMS_uc010adl.1_Intron|BCMS_uc001vee.1_Intron|BCMS_uc010adm.1_Intron|BCMS_uc010adn.1_Intron|BCMS_uc001vef.1_Intron|BCMS_uc001veg.1_Intron|BCMS_uc010tgn.1_Intron|BCMS_uc001vei.1_Intron|BCMS_uc010ado.1_Intron|BCMS_uc010adp.1_Intron					Homo sapiens suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 4 (ST13P4), non-coding RNA.																		TGAAATAAATCCTGATTCAGC	0.498000														97			25		0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33374033	33374033	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:33374033G>A	uc003oef.4	+	7	2047	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	KIFC1_uc011drf.2_Missense_Mutation_p.E525K	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	Homo sapiens kinesin family member C1 (KIFC1), mRNA.	533	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						AGCCCAGAATGAACGGTCATC	0.622000														238			57		0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854317	88854317	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:88854317C>T	uc010kbz.3	-	1	807	c.677G>A	c.(676-678)aGg>aAg	p.R226K	CNR1_uc011dzr.2_Missense_Mutation_p.R226K|CNR1_uc011dzs.2_Missense_Mutation_p.R226K|CNR1_uc003pmq.4_Missense_Mutation_p.R226K|CNR1_uc011dzt.2_Missense_Mutation_p.R226K|CNR1_uc010kca.3_Missense_Mutation_p.R193K|CNR1_uc021zco.1_Missense_Mutation_p.R226K	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	226					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	p.K225K(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GGTGACAATCCTCTTATAGGC	0.597000														13			10		0	0	1	0	0
STT3B	201595	broad.mit.edu	37	3	31661282	31661282	+	Silent	SNP	T	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:31661282T>C	uc011axe.2	+	8	1287	c.1287T>C	c.(1285-1287)ctT>ctC	p.L429L	STT3B_uc003cer.1_Silent_p.L429L|STT3B_uc010hft.1_Silent_p.L393L	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) (STT3B), mRNA.	429					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						CAGCAGGCCTTTGGTTCTGCA	0.343000														23			6		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48613143	48613143	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:48613143C>T	uc003ctz.2	-	71	5896	c.5895G>A	c.(5893-5895)gaG>gaA	p.E1965E		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1965	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACCAGAGCTCTCATCCCAGG	0.672000														34			20		0	0	1	0	0
UBR3	130507	broad.mit.edu	37	2	170857905	170857905	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:170857905C>T	uc010zdi.2	+	26	4010	c.4010C>T	c.(4009-4011)tCt>tTt	p.S1337F	UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_Missense_Mutation_p.S158F|UBR3_uc002uft.4_Missense_Mutation_p.S190F|UBR3_uc010zdj.2_5'UTR	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1337					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TGTCATAAATCTTACATGGAA	0.328000														51			13		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80329277	80329277	+	Silent	SNP	C	T	T	rs145465808		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:80329277C>T	uc003hlu.3	-	0	96	c.78G>A	c.(76-78)ctG>ctA	p.L26L		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	26					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AATTGAAAACCAGAAAGCGAG	0.507000														28			15		0	0	1	0	0
C2orf62	375307	broad.mit.edu	37	2	219232510	219232510	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:219232510C>T	uc002vhr.3	+	9	1016	c.987C>T	c.(985-987)tcC>tcT	p.S329S	BC038211_uc002vht.3_Non-coding_Transcript	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	Homo sapiens chromosome 2 open reading frame 62 (C2orf62), mRNA.	329										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCTCATCTCCGACTTCCTGC	0.706000														24			18		0	0	1	0	0
FAM86EP	348926	broad.mit.edu	37	4	3948534	3948534	+	RNA	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:3948534G>A	uc011bvu.2	-	4		c.1801C>T			FAM86EP_uc003ghn.3_Intron					Homo sapiens family with sequence similarity 86, member E, pseudogene (FAM86EP), non-coding RNA.																		TGTGGGTTGTGGACGGTAAAG	0.657000														51			35		0	0	1	0	0
PRPH2	5961	broad.mit.edu	37	6	42689706	42689706	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:42689706G>A	uc003osk.3	-	0	653	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W		NM_000322	NP_000313	P23942	PRPH2_HUMAN	Homo sapiens peripherin 2 (retinal degeneration, slow) (PRPH2), mRNA.	123					cell adhesion|visual perception	integral to membrane		p.R123W(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			AGCGAGCCCCGAAGCAGAAAG	0.547000														10			15		0	0	1	0	0
TOM1L2	146691	broad.mit.edu	37	17	17750954	17750954	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:17750954G>A	uc002grz.4	-	14	1676	c.1519C>T	c.(1519-1521)Ctg>Ttg	p.L507L	TOM1L2_uc002gry.4_Silent_p.L457L|TOM1L2_uc010vwy.2_Silent_p.L483L|TOM1L2_uc010cpr.3_Silent_p.L462L|TOM1L2_uc010vwz.2_Silent_p.L388L|TOM1L2_uc010vxa.2_Silent_p.L389L|TOM1L2_uc002grv.4_Silent_p.L240L	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	Homo sapiens target of myb1-like 2 (chicken) (TOM1L2), transcript variant 3, mRNA.	507					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					GCTGCTCACAGGGCGAAGAGG	0.682000														11			25		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52555399	52555399	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:52555399C>T	uc003dej.3	+	55	6005	c.5931C>T	c.(5929-5931)agC>agT	p.S1977S	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'UTR	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1977	Laminin EGF-like 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCCCAGCAGCCCTTGTAGTG	0.632000														31			32		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19656328	19656328	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:19656328G>A	uc002nmw.4	+	7	3077	c.2992G>A	c.(2992-2994)Gag>Aag	p.E998K	CILP2_uc002nmv.4_Missense_Mutation_p.E992K	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	992						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						AGCCTGCGTGGAGTTCAAGTG	0.701000														17			19		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103338460	103338460	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:103338460C>T	uc022ajr.1	-	9	1143	c.983G>A	c.(982-984)tGg>tAg	p.W328*	RELN_uc022ajq.1_Nonsense_Mutation_p.W328*|RELN_uc010liz.3_Nonsense_Mutation_p.W328*	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	328					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCCTGCTTCCACTGAAATTG	0.453000														89			50		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179650650	179650650	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:179650650C>T	uc021vsy.1	-	13	2520	c.2295G>A	c.(2293-2295)aaG>aaA	p.K765K	TTN_uc021vsz.1_Silent_p.K719K|TTN_uc021vta.1_Silent_p.K719K|TTN_uc021vtb.1_Silent_p.K719K|TTN_uc002unb.2_Silent_p.K765K|TTN_uc010frg.1_Silent_p.K347K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	765							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R764H(1)|p.R764C(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)			TTACTCTAGGCTTGACTGCTT	0.478000														22			25		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539576	56539576	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:56539576G>A	uc002qmj.3	+	6	1977	c.1977G>A	c.(1975-1977)ctG>ctA	p.L659L	NLRP5_uc002qmi.3_Silent_p.L640L	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	659						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCGTTCCCCTGGGGGTGAAGC	0.582000														57			15		0	0	1	0	0
MAP2K7	5609	broad.mit.edu	37	19	7977033	7977033	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:7977033G>A	uc002mit.3	+	10	1145	c.1080_splice	c.e10-1	p.C360_splice	MAP2K7_uc002miv.2_Splice_Site_p.C367_splice|MAP2K7_uc010xka.1_Splice_Site|MAP2K7_uc010dvv.3_Splice_Site_p.C235_splice|MAP2K7_uc010xkb.2_Splice_Site_p.C367_splice	NM_145185	NP_660186	O14733	MP2K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA.	360	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	TCTTGCTCTAGCCTTACTAAA	0.602000														39			22		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26299688	26299688	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr22:26299688G>A	uc003abz.1	+	30	5288	c.5038G>A	c.(5038-5040)Gaa>Aaa	p.E1680K	MYO18B_uc003aca.1_Missense_Mutation_p.E1561K|MYO18B_uc010guy.1_Missense_Mutation_p.E1562K|MYO18B_uc010guz.1_Missense_Mutation_p.E1560K|MYO18B_uc011aka.1_Missense_Mutation_p.E834K|MYO18B_uc011akb.1_Missense_Mutation_p.E1193K	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1680	Gln-rich.|Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTCTCTGGGGGAAAATTGCGT	0.542000														11			6		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101375063	101375063	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:101375063C>T	uc001pgk.4	-	1	1062	c.637G>A	c.(637-639)Ggg>Agg	p.G213R	TRPC6_uc009ywy.3_Missense_Mutation_p.G213R|TRPC6_uc009ywz.1_Missense_Mutation_p.G213R	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	213					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			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)		AACCGTGTCCCATCTTCATCA	0.488000														12			15		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423596	26423596	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr22:26423596G>A	uc003abz.1	+	42	7906	c.7656G>A	c.(7654-7656)agG>agA	p.R2552R	MYO18B_uc003aca.1_Silent_p.R2433R|MYO18B_uc010guy.1_Silent_p.R2434R|MYO18B_uc010guz.1_Silent_p.R2432R|MYO18B_uc011aka.1_Silent_p.R1706R|MYO18B_uc011akb.1_Silent_p.R2065R|MYO18B_uc010gva.1_Silent_p.R535R|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2552						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGACGGGGAGGAAAGACGACG	0.547000														6			8		0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26536765	26536765	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:26536765G>T	uc002rhe.4	-	7	1139	c.1139C>A	c.(1138-1140)tCc>tAc	p.S380Y	GPR113_uc010yky.1_Missense_Mutation_p.S311Y|GPR113_uc002rhb.1_5'UTR|GPR113_uc010eyk.1_Missense_Mutation_p.S181Y|GPR113_uc002rhc.1_5'UTR|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	380					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCGTTGAAGGAGGAAGCTGA	0.567000														14			37		1.59932e-28	1.62843e-28	1	1	0
RNF180	285671	broad.mit.edu	37	5	63496695	63496695	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:63496695C>T	uc003jti.3	+	1	171	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C	RNF180_uc003jth.4_Missense_Mutation_p.R21C|RNF180_uc010iws.3_Missense_Mutation_p.R21C	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	Homo sapiens ring finger protein 180 (RNF180), transcript variant 1, mRNA.	21				SILRC -> GETVFSL (in Ref. 2; CAD89939).		integral to membrane|nuclear envelope	zinc ion binding	p.R21H(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		AAGTATTCTTCGTTGTTGGAA	0.333000														23			19		0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164271441	164271441	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:164271441G>A	uc003iqn.3	+	3	198	c.16G>A	c.(16-18)Gac>Aac	p.D6N	NPY5R_uc021xtw.1_Missense_Mutation_p.D6N	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	6					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TTTAGAGCTCGACGAGTATTA	0.363000														29			18		0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143056102	143056102	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:143056102A>T	uc010lpa.3	-	4	428	c.284T>A	c.(283-285)aTg>aAg	p.M95K	FAM131B_uc010loz.3_Missense_Mutation_p.M35K|FAM131B_uc003wct.3_Missense_Mutation_p.M67K|FAM131B_uc003wcu.4_Missense_Mutation_p.M67K|ZYX_uc011ktd.2_5'Flank	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	67										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					ATGGTCCTTCATGCTCCGTGA	0.582000														10			17		0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158299203	158299203	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:158299203C>T	uc001frx.3	-	3	951	c.843G>A	c.(841-843)gtG>gtA	p.V281V	CD1B_uc001frw.3_Intron	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	281	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.R280L(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TGCTGTGCTTCACCCGACAGG	0.557000														34			29		0	0	1	0	0
SNRPB	6628	broad.mit.edu	37	20	2444465	2444465	+	Silent	SNP	A	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr20:2444465A>G	uc002wfz.1	-	3	511	c.348T>C	c.(346-348)gcT>gcC	p.A116A	SNRPB_uc002wga.1_Silent_p.A116A|SNRPB_uc010zpv.2_Silent_p.A37A|SNRPB_uc002wgb.3_Silent_p.A116A|SNORD119_uc010gam.1_5'Flank	NM_198216	NP_937859	P14678	RSMB_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.	116					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						TGGGAACCCCAGCTGGGATTC	0.607000														85			69		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104185	53104185	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:53104185C>T	uc003tpz.3	+	0	837	c.821C>T	c.(820-822)tCc>tTc	p.S274F		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	274										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACAACGCCTTCCTGCGGCAGC	0.637000														39			38		0	0	1	0	0
GGT5	2687	broad.mit.edu	37	22	24621251	24621251	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr22:24621251C>T	uc002zzp.4	-	9	1885	c.1468G>A	c.(1468-1470)Ggg>Agg	p.G490R	GGT5_uc002zzo.4_Missense_Mutation_p.G489R|GGT5_uc002zzr.4_Missense_Mutation_p.G457R|GGT5_uc002zzq.4_Missense_Mutation_p.G457R|GGT5_uc011ajm.2_Missense_Mutation_p.G413R	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	489					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.G489R(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCGCCAGCCCCGCCAATCACT	0.622000														51			46		0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48801292	48801292	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:48801292C>T	uc002pir.2	-	11	2039	c.1356G>A	c.(1354-1356)ccG>ccA	p.P452P	CCDC114_uc002piq.2_Silent_p.P261P|CCDC114_uc002pio.3_Silent_p.P489P|CCDC114_uc002pis.1_Silent_p.P132P	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	452								p.P245P(1)|p.P452P(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CCATCTTCTTCGGAAGGTCCT	0.672000														12			17		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124436232	124436232	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:124436232G>A	uc003ehg.3	+	59	8542	c.8415_splice	c.e59+1	p.K2805_splice	KALRN_uc003ehk.3_Splice_Site_p.K1108_splice	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2804	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGGACATAAAGGTAATAAGAA	0.507000														27			4		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531334	140531334	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:140531334C>T	uc003lir.3	+	0	1496	c.1496C>T	c.(1495-1497)tCt>tTt	p.S499F		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	499	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCCCCTCTCTTCCCTGGTC	0.652000														13			95		0	0	1	0	0
TFPI	7035	broad.mit.edu	37	2	188361636	188361636	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:188361636C>T	uc002upy.3	-	2	586	c.291G>A	c.(289-291)ctG>ctA	p.L97L	TFPI_uc002uqa.2_Silent_p.L97L|TFPI_uc002uqb.2_Silent_p.L97L	NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	97	BPTI/Kunitz inhibitor 1.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	TGCACTCTTCCAGACTTTCAA	0.348000														23			13		0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158565372	158565372	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:158565372G>A	uc003qrc.2	-	6	710	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	SERAC1_uc003qrb.2_5'UTR	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	190					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AGAAAAAAGCGAAGATCACTC	0.328000														19			6		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13839596	13839596	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:13839596C>T	uc003jfd.2	-	34	5793	c.5751G>A	c.(5749-5751)ctG>ctA	p.L1917L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1917	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCACTGTTTCAGCCACTCAA	0.373000									Kartagener syndrome					22			12		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318031	30318031	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr10:30318031G>A	uc009xle.2	-	2	1183	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	KIAA1462_uc001iux.3_Missense_Mutation_p.P349L|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.P211L	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	349	Pro-rich.							p.S348S(1)|p.S348L(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTTCTGCGGGGGCGATCTGTA	0.597000														9			75		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33134304	33134304	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:33134304G>A	uc003ocx.1	-	59	4606	c.4378C>T	c.(4378-4380)Ccc>Tcc	p.P1460S	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.P1374S|COL11A2_uc003ocz.1_Missense_Mutation_p.P1353S	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1460	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AGGCCGGGGGGACCTCCAGGA	0.617000														12			52		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466207	10466207	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:10466207C>T	uc003wtc.3	-	3	5630	c.5401G>A	c.(5401-5403)Gga>Aga	p.G1801R		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1801					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCAGTTTCTCCCCTTTCACTT	0.577000														133			48		0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104206311	104206311	+	Silent	SNP	G	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr14:104206311G>T	uc001yof.1	-	11	2725	c.2442C>A	c.(2440-2442)gcC>gcA	p.A814A	PPP1R13B_uc010awv.1_Non-coding_Transcript|PPP1R13B_uc001yog.1_Silent_p.A681A	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	814	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CTGCCGGCTCGGCAGTTTGGT	0.607000														2			22		1.28384e-07	1.29235e-07	1	1	0
TTN	7273	broad.mit.edu	37	2	179440956	179440956	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:179440956G>A	uc021vsy.1	-	274	62424	c.62199C>T	c.(62197-62199)ttC>ttT	p.F20733F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.F14428F|TTN_uc021vta.1_Silent_p.F14361F|TTN_uc021vtb.1_Silent_p.F14236F|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21660	Fibronectin type-III 50.						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)			CAGGAACAACGAACTGAGTGA	0.463000														20			15		0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43897468	43897468	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr21:43897468C>T	uc002zbg.3	-	6	765	c.660G>A	c.(658-660)tgG>tgA	p.W220*		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	Homo sapiens radial spoke head 1 homolog (Chlamydomonas) (RSPH1), mRNA.	220					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						GAGTTGGTGTCCACAGGGCCA	0.532000														30			17		0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14754919	14754919	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:14754919C>T	uc002mzi.4	-	9	1198	c.1050_splice	c.e9+1	p.Q350_splice	EMR3_uc010dzp.3_Splice_Site_p.Q298_splice|EMR3_uc010xnv.2_Splice_Site_p.Q224_splice	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	350	GPS.				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						ATACATCATACCTGGCTGGTC	0.423000														19			8		0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92301426	92301426	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:92301426C>T	uc003yez.3	+	2	495	c.256C>T	c.(256-258)Cct>Tct	p.P86S	SLC26A7_uc003yex.3_Missense_Mutation_p.P86S|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.P86S	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	86						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GTCTCTGTTTCCTGCCATAAT	0.383000														40			43		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156639980	156639980	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:156639980G>A	uc001fpq.3	-	3	4133	c.4000C>T	c.(4000-4002)Cct>Tct	p.P1334S	NES_uc021pbh.1_Missense_Mutation_p.P252S	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1334	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGACAGCAGGATCCCAGCCC	0.652000														61			52		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148059941	148059941	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:148059941G>A	uc004fcp.3	+	17	4005	c.3526G>A	c.(3526-3528)Gac>Aac	p.D1176N	AFF2_uc004fcq.3_Missense_Mutation_p.D1166N|AFF2_uc004fcr.3_Missense_Mutation_p.D1137N|AFF2_uc011mxb.2_Missense_Mutation_p.D1141N|AFF2_uc004fcs.3_Missense_Mutation_p.D1141N|AFF2_uc011mxc.2_Missense_Mutation_p.D817N	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1176					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGAAGAAGGACCATGCTAT	0.353000														48			35		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255646	140255646	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:140255646C>T	uc003lic.2	+	0	716	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.R197W	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	212	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTAGTTCTTCGGAAGTTATT	0.348000														0			19		0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55795008	55795008	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:55795008G>A	uc010spl.2	+	0	696	c.696G>A	c.(694-696)agG>agA	p.R232R		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						CCCAGCAAAGGAAAAAGGCTT	0.398000														56			40		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69693184	69693184	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:69693184G>A	uc003hee.3	+	4	1250	c.1225G>A	c.(1225-1227)Gga>Aga	p.G409R	UGT2B10_uc011cam.2_Missense_Mutation_p.G325R	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	409					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAAGGCCAAGGGAGCAGCTGT	0.428000														60			59		0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676380	123676380	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:123676380G>A	uc010rzz.2	-	0	678	c.678C>T	c.(676-678)ccC>ccT	p.P226P		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CCTGGGTGGAGGGGATACGCA	0.498000														15			5		0	0	1	0	0
ZDHHC4	55146	broad.mit.edu	37	7	6628267	6628267	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:6628267C>T	uc003sqi.3	+	8	1119	c.761C>T	c.(760-762)cCa>cTa	p.P254L	ZDHHC4_uc003sql.3_Missense_Mutation_p.P254L|ZDHHC4_uc003sqj.3_Missense_Mutation_p.P254L|ZDHHC4_uc003sqh.3_Missense_Mutation_p.P254L|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	254						integral to membrane	acyltransferase activity|zinc ion binding	p.P254A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		CTGACTTTTCCACGGATTGTC	0.532000														85			49		0	0	1	0	0
KIAA1524	57650	broad.mit.edu	37	3	108270127	108270127	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:108270127G>A	uc003dxb.4	-	20	2856	c.2587C>T	c.(2587-2589)Cgt>Tgt	p.R863C		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	863						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCTTCCAAACGACCTTCTAAT	0.408000														21			7		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10951344	10951344	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr21:10951344G>A	uc002yip.1	-	9	736	c.368C>T	c.(367-369)cCt>cTt	p.P123L	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.P105L|TPTE_uc002yir.1_Missense_Mutation_p.P85L|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	123					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.M121_D122>IY(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATACTCCAAAGGAATATAAAG	0.323000														48			5		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144994716	144994716	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:144994716G>A	uc021ouh.1	-	0	318	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Missense_Mutation_p.R6C|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.R6C|PDE4DIP_uc001elx.4_Intron|PDE4DIP_uc001emd.2_Missense_Mutation_p.R6C|PDE4DIP_uc001emc.2_Missense_Mutation_p.R6C|PDE4DIP_uc001emg.2_Missense_Mutation_p.R6C|PDE4DIP_uc021oui.1_Intron|PDE4DIP_uc021ouj.1_Intron|PDE4DIP_uc001emh.3_Intron	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	6					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GACAGAGTGCGATATCCATTA	0.567000			T	PDGFRB	MPD									84			9		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70465074	70465074	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:70465074C>T	uc011caq.2	-	3	1500	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	UGT2A1_uc010ihu.3_Missense_Mutation_p.E296K|UGT2A1_uc003hem.4_Missense_Mutation_p.E252K|UGT2A1_uc010ihs.3_Missense_Mutation_p.E261K|UGT2A1_uc021xox.1_Missense_Mutation_p.E261K|UGT2A1_uc010iht.3_Missense_Mutation_p.E252K	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	252					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AACCAAATTTCAGCTTTCCCC	0.393000														19			7		0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238048097	238048097	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:238048097G>A	uc001hym.3	-	9	1649	c.1362C>T	c.(1360-1362)tcC>tcT	p.S454S	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	454	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCACCACACAGGATGGTGTCT	0.488000														7			6		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95947008	95947008	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:95947008C>T	uc002suk.3	+	11	1579	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	PROM2_uc002suh.2_Silent_p.F482F|PROM2_uc002sui.3_Silent_p.F482F|PROM2_uc002suj.3_Silent_p.F136F|PROM2_uc002sul.3_Silent_p.F8F|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	482						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCCTCAGCTTCCTCTTTGCTG	0.647000														39			48		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121767700	121767700	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:121767700G>A	uc003ksw.1	+	5	1425	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.3_Missense_Mutation_p.E407K|SNCAIP_uc003ksy.1_Missense_Mutation_p.E41K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E454K|SNCAIP_uc003ksz.1_Missense_Mutation_p.E41K|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Missense_Mutation_p.E41K|SNCAIP_uc003kta.1_Missense_Mutation_p.E39K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E101K|SNCAIP_uc010jcx.1_Missense_Mutation_p.E347K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	407					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GATGGTGAGCGAAACAGAAGC	0.393000														25			9		0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106252	27106252	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:27106252C>T	uc001bmv.1	+	19	6236	c.5863C>T	c.(5863-5865)Cta>Tta	p.L1955L	ARID1A_uc001bmu.1_Silent_p.L1738L|ARID1A_uc001bmx.1_Silent_p.L801L|ARID1A_uc009vsm.1_Silent_p.L283L|ARID1A_uc009vsn.1_Silent_p.L197L	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1955					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATCAAGATCCTAGAGGACGA	0.532000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									39			69		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75442073	75442073	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:75442073C>T	uc001sxg.1	-	3	2184	c.1640G>A	c.(1639-1641)gGa>gAa	p.G547E	KCNC2_uc009zry.3_Missense_Mutation_p.G547E|KCNC2_uc001sxe.3_Missense_Mutation_p.G547E|KCNC2_uc001sxf.3_Intron|KCNC2_uc010stw.1_Intron	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	547					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						CGGCTCACTTCCTGTACTGTC	0.478000														27			18		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324803	79324803	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr9:79324803G>A	uc010mpk.3	-	7	2511	c.2387C>T	c.(2386-2388)cCa>cTa	p.P796L	PRUNE2_uc022bih.1_Missense_Mutation_p.P618L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	796					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGCTGGGAATGGCGCCACAGC	0.498000														1			10		0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146232	70146232	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:70146232G>A	uc003hej.3	+	0	16	c.14G>A	c.(13-15)tGg>tAg	p.W5*	UGT2B28_uc010ihr.3_Nonsense_Mutation_p.W5*	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	5					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GCTCTGAAGTGGACTTCAGTT	0.403000														77			55		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32836601	32836601	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr13:32836601G>T	uc001utx.3	+	52	8264	c.7768G>T	c.(7768-7770)Gag>Tag	p.E2590*	FRY_uc010tdw.2_Non-coding_Transcript|FRY_uc001utz.3_Nonsense_Mutation_p.E115*|FRY_uc010tdx.2_5'Flank	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2590					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCAGATTTCTGAGGGTTCAAA	0.398000														18			26		1.12875e-08	1.13839e-08	1	1	0
PRAMEF2	65122	broad.mit.edu	37	1	12919788	12919788	+	Silent	SNP	T	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:12919788T>C	uc001aum.1	+	2	615	c.528T>C	c.(526-528)ggT>ggC	p.G176G		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	176										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGGAGAGGTTTAGTACACC	0.408000														169			37		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924532	70924532	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr14:70924532C>T	uc021rvq.1	+	0	316	c.316C>T	c.(316-318)Cca>Tca	p.P106S	ADAM21_uc001xmd.3_Missense_Mutation_p.P106S	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	106					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.P106L(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCTCTTCATCCCAGATGACTG	0.478000														26			28		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182359477	182359477	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:182359477C>T	uc002unu.3	+	11	2040	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L		NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	426					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATCAGCAAATCGTTAAGTATG	0.308000														41			33		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926121	1926121	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:1926121G>A	uc002qxe.3	-	9	2247	c.1420C>T	c.(1420-1422)Ccc>Tcc	p.P474S	MYT1L_uc002qxd.3_Missense_Mutation_p.P474S|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	474					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P474P(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCCTCCCCGGGAAGTTGTCTC	0.473000														21			30		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761298	92761298	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:92761298C>T	uc003umh.1	-	4	5203	c.3987G>A	c.(3985-3987)agG>agA	p.R1329R	SAMD9L_uc003umj.1_Silent_p.R1329R|SAMD9L_uc003umi.1_Silent_p.R1329R|SAMD9L_uc010lfb.1_Silent_p.R1329R|SAMD9L_uc003umk.1_Silent_p.R1329R|SAMD9L_uc010lfc.1_Silent_p.R1329R|SAMD9L_uc010lfd.1_Silent_p.R1329R|SAMD9L_uc022ahh.1_Silent_p.R1329R	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1329										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTAGCTTTTTCCTGCAATTCT	0.388000														79			39		0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50707515	50707515	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:50707515C>T	uc002egk.2	-	3	926	c.753G>A	c.(751-753)gaG>gaA	p.E251E	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	251					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GCAGGGCCCTCTCTCCGGCCG	0.751000														15			13		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247268	164247268	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:164247268C>A	uc003iqm.2	-	1	904	c.439G>T	c.(439-441)Ggg>Tgg	p.G147W	NPY1R_uc021xtv.1_Missense_Mutation_p.G147W|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	147					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.R146R(1)|p.R146Q(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGTCTCCACCCTCGAGGGTTG	0.423000														30			20		1.15919e-05	1.16356e-05	1	1	0
PCLO	27445	broad.mit.edu	37	7	82763687	82763687	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:82763687G>A	uc003uhx.2	-	2	3468	c.3179C>T	c.(3178-3180)cCt>cTt	p.P1060L	PCLO_uc003uhv.2_Missense_Mutation_p.P1060L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1006					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGCAGAGAGGACAGGTTGA	0.423000														9			9		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806472	54806472	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:54806472G>A	uc003pck.3	+	4	2819	c.2703G>A	c.(2701-2703)gaG>gaA	p.E901E		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	901										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ATTCAAGGGAGATTAATGCAG	0.468000														15			10		0	0	1	0	0
TEAD4	7004	broad.mit.edu	37	12	3149415	3149415	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:3149415C>T	uc010sej.2	+	11	1473	c.1181C>T	c.(1180-1182)aCc>aTc	p.T394I	TEAD4_uc010sek.2_Missense_Mutation_p.T351I|TEAD4_uc001qln.3_Missense_Mutation_p.T265I	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	394					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GAGAACTTCACCATCCTGCAG	0.567000														36			22		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506663	37506663	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr10:37506663G>A	uc021ppc.1	+	32	3055	c.2956G>A	c.(2956-2958)Gat>Aat	p.D986N	ANKRD30A_uc001iza.1_Missense_Mutation_p.D986N	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1042						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.D986Y(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGAAATGCCGATATATTAAA	0.308000														2			6		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135430444	135430444	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:135430444A>G	uc004ezu.1	+	5	4870	c.4579A>G	c.(4579-4581)Aaa>Gaa	p.K1527E	GPR112_uc010nsb.1_Missense_Mutation_p.K1322E|GPR112_uc010nsc.1_Missense_Mutation_p.K1294E	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1527					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)					CACCTCCAAAAAAGTTTCTGA	0.428000														40			37		0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24911227	24911227	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr22:24911227G>A	uc003aaf.3	+	5	1975	c.680G>A	c.(679-681)aGg>aAg	p.R227K	UPB1_uc003aae.3_Missense_Mutation_p.R159K	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	Homo sapiens ureidopropionase, beta (UPB1), mRNA.	227	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CAGTTCGGAAGGATCGCGGTG	0.542000														42			40		0	0	1	0	0
TLE6	79816	broad.mit.edu	37	19	2987189	2987189	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:2987189G>A	uc002lwt.2	+	6	603	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	TLE6_uc002lwu.2_Missense_Mutation_p.R42Q	NM_001143986	NP_079036	Q9H808	TLE6_HUMAN	Homo sapiens transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) (TLE6), transcript variant 1, mRNA.	42					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		CAACTCTGGCGGATTTTTGCC	0.622000														60			54		0	0	1	0	0
GPR34	2857	broad.mit.edu	37	X	41555494	41555494	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:41555494T>G	uc022bvc.1	+	0	608	c.608T>G	c.(607-609)aTg>aGg	p.M203R	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR34_uc004dfp.4_Missense_Mutation_p.M203R|GPR34_uc004dfq.4_Missense_Mutation_p.M203R|GPR34_uc010nhg.3_Missense_Mutation_p.M203R|GPR34_uc004dfr.4_Missense_Mutation_p.M203R	NM_005300	NP_005291	Q9UPC5	GPR34_HUMAN	Homo sapiens G protein-coupled receptor 34 (GPR34), transcript variant 1, mRNA.	203						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AATTCCACAATGTGTTTCCAT	0.333000														32			13		0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31146210	31146210	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:31146210T>G	uc003tca.2	+	15	1608	c.1319T>G	c.(1318-1320)gTg>gGg	p.V440G	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.V468G|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.V467G|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.V419G|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.V468G	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	440					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						AGCAGTGGGGTGAATGGGGGC	0.592000														22			24		0	0	1	0	0
ZDHHC13	54503	broad.mit.edu	37	11	19172302	19172302	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:19172302A>T	uc001mpi.3	+	5	653	c.548A>T	c.(547-549)cAg>cTg	p.Q183L	ZDHHC13_uc001mpj.3_Missense_Mutation_p.Q53L	NM_019028	NP_001001483	Q8IUH4	ZDH13_HUMAN	Homo sapiens zinc finger, DHHC-type containing 13 (ZDHHC13), transcript variant 1, mRNA.	183					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding	p.F182F(1)		NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GTAAATGGGCAGACACCTCTC	0.323000														23			14		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561520	9561520	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr20:9561520C>T	uc002wnl.2	-	4	807	c.262G>A	c.(262-264)Gat>Aat	p.D88N	PAK7_uc002wnk.2_Missense_Mutation_p.D88N|PAK7_uc002wnj.2_Missense_Mutation_p.D88N|PAK7_uc010gby.1_Missense_Mutation_p.D88N	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	88	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)			TTGTCAAAATCCTCTAGCAGG	0.493000														65			53		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47402395	47402395	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:47402395G>A	uc001cqp.4	-	3	502	c.451C>T	c.(451-453)Cac>Tac	p.H151Y	CYP4A11_uc001cqq.2_Missense_Mutation_p.H151Y|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	151					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	ATGTCATAGTGGAAGGCTGGG	0.542000														27			8		0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119100	3119100	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:3119100C>T	uc010vrc.2	+	0	186	c.186C>T	c.(184-186)ctC>ctT	p.L62L		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TGTATTTTCTCCTTGCCAACC	0.473000														100			49		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46832714	46832714	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:46832714C>T	uc002peh.3	+	11	1722	c.1691C>T	c.(1690-1692)cCc>cTc	p.P564L	HIF3A_uc002peg.4_Missense_Mutation_p.P564L|HIF3A_uc021uwf.1_Missense_Mutation_p.P508L|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Missense_Mutation_p.P495L|HIF3A_uc002pel.3_Missense_Mutation_p.P562L|HIF3A_uc010xxz.2_Missense_Mutation_p.P513L	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	564	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GCATCCTCTCCCATGGCTGGG	0.662000														6			3		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43674267	43674267	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:43674267G>A	uc002ovu.3	-	4	1119	c.988C>T	c.(988-990)Cct>Tct	p.P330S	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.P330S	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	330					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTAAGGAGAGGAAGACGTCCT	0.448000														28			37		0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158908248	158908248	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:158908248G>A	uc001ftb.3	+	2	577	c.327G>A	c.(325-327)caG>caA	p.Q109Q	PYHIN1_uc001fta.4_Silent_p.Q109Q|PYHIN1_uc001ftc.3_Silent_p.Q100Q|PYHIN1_uc001ftd.3_Silent_p.Q109Q|PYHIN1_uc001fte.3_Silent_p.Q100Q	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	109					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGACGAAACAGAAAGAAGTGT	0.428000														36			23		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99509726	99509726	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:99509726G>A	uc003dti.1	+	1	328	c.200G>A	c.(199-201)gGc>gAc	p.G67D	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G67D|COL8A1_uc003dth.1_Missense_Mutation_p.G67D	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	67	Nonhelical region (NC2).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GCCAAAGATGGCCTTGCCATG	0.527000														43			12		0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39865006	39865006	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:39865006G>A	uc003guv.4	-	23	3256	c.2716C>T	c.(2716-2718)Cat>Tat	p.H906Y		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	906					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ATAATTTCATGGTAACAAGGT	0.333000														14			5		0	0	1	0	0
ZNF41	7592	broad.mit.edu	37	X	47307368	47307368	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:47307368G>A	uc004dhs.4	-	3	1994	c.1927C>T	c.(1927-1929)Cat>Tat	p.H643Y	ZNF41_uc004dhu.4_Missense_Mutation_p.H635Y|ZNF41_uc004dht.4_Missense_Mutation_p.H515Y|ZNF41_uc004dhv.4_Missense_Mutation_p.H611Y|ZNF41_uc004dhw.4_Missense_Mutation_p.H603Y|ZNF41_uc004dhy.4_Missense_Mutation_p.H601Y|ZNF41_uc004dhx.4_Missense_Mutation_p.H601Y|ZNF41_uc011mlm.2_Missense_Mutation_p.H515Y	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	643						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TCTCCTGTATGGATTCTCTGA	0.448000														27			17		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101777034	101777034	+	Splice_Site	SNP	T	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr13:101777034T>G	uc001vox.1	-	18	2308	c.2119_splice	c.e18-1	p.L707_splice		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	707						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTGCGAAGCTGAAAATGATA	0.333000														31			13		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22337432	22337432	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr14:22337432G>A	uc021rpg.1	+	1	286	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 85.																		AAATGTGGGCGAAAAGAAAGA	0.428000														9			61		0	0	1	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195692	18195692	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:18195692G>A	uc001mnv.1	+	0	1309	c.889G>A	c.(889-891)Gac>Aac	p.D297N		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	297						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GGCTCTGCAGGACAAGCCTGA	0.552000														15			18		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7494314	7494314	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:7494314G>A	uc003bqm.2	+	5	1469	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.D399N|GRM7_uc003bql.2_Missense_Mutation_p.D399N|GRM7_uc003bqn.1_5'UTR|GRM7_uc010hch.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	399					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding	p.D399Y(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AATTGGAAAAGATTCCAACTA	0.433000														10			20		0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150377862	150377862	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:150377862G>A	uc003eyg.3	-	13	1866	c.1809C>T	c.(1807-1809)atC>atT	p.I603I	FAM194A_uc003eyh.3_Silent_p.I457I	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	603								p.K602N(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ACAGGCGACGGATCTTTATTA	0.418000														41			50		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957378	35957378	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:35957378C>T	uc003jjv.2	-	4	1180	c.987G>A	c.(985-987)tgG>tgA	p.W329*	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Nonsense_Mutation_p.W329*|UGT3A1_uc011cor.2_Nonsense_Mutation_p.W295*	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	329						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGACATGTCCATATCACTC	0.502000														19			21		0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80521331	80521332	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:80521331_80521332CC>TT	uc002kfn.3	+	1	692_693	c.521_522CC>TT	c.(520-522)gcc>gTT	p.A174V	FOXK2_uc002kfm.1_Missense_Mutation_p.A174V|FOXK2_uc010diu.3_Missense_Mutation_p.A174V	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	174					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CCAGTGAAGGCCGTACAGCCAC	0.584000														27			12		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657909	46657909	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr22:46657909C>T	uc003bhh.3	-	0	1311	c.1311G>A	c.(1309-1311)aaG>aaA	p.K437K		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	437	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCCTAGAGTCCTTCCGAATCA	0.478000														38			30		0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45368754	45368754	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:45368754C>T	uc002ozw.1	+	1	705	c.315C>T	c.(313-315)ttC>ttT	p.F105F	PVRL2_uc002ozv.3_Silent_p.F105F	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	Homo sapiens poliovirus receptor-related 2 (herpesvirus entry mediator B) (PVRL2), transcript variant delta, mRNA.	105	Ig-like V-type.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GGCTGTCCTTCGTCTCTGCCA	0.652000														8			5		0	0	1	0	0
MRPL23	6150	broad.mit.edu	37	11	1977616	1977616	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:1977616G>T	uc001lux.3	+	4	519	c.428G>T	c.(427-429)cGg>cTg	p.R143L		NM_021134	NP_066957	Q16540	RM23_HUMAN	Homo sapiens mitochondrial ribosomal protein L23 (MRPL23), nuclear gene encoding mitochondrial protein, mRNA.	143					translation	mitochondrial large ribosomal subunit	RNA binding|nucleotide binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AGCGACCCGCGGCGGGGCGGC	0.716000														11			12		1.08611e-07	1.09434e-07	1	1	0
GMIP	51291	broad.mit.edu	37	19	19744834	19744834	+	Silent	SNP	G	A	A	rs138372356		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:19744834G>A	uc002nnd.3	-	18	2367	c.2250C>T	c.(2248-2250)atC>atT	p.I750I	GMIP_uc010xrb.2_Silent_p.I724I|GMIP_uc010xrc.2_Silent_p.I721I	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	750	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CGTAGTGCACGATGAGGAACT	0.682000														35			25		0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7329866	7329866	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:7329866G>A	uc002ggw.3	+	2	629	c.556G>A	c.(556-558)Gag>Aag	p.E186K	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	186						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				TTCCTACCTGGAGGAGGAGGA	0.582000														11			20		0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91850744	91850744	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:91850744G>A	uc001doa.4	-	6	901	c.802_splice	c.e6+1	p.P268_splice	HFM1_uc010osu.2_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Splice_Site_p.P268_splice	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	268							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TAAAGGATACGAATTTCTGTG	0.249000														29			6		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13793757	13793757	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:13793757G>A	uc003jfd.2	-	48	8133	c.8091C>T	c.(8089-8091)atC>atT	p.I2697I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2697	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGATGTCCACGATGCTGGTGA	0.448000									Kartagener syndrome					74			23		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234601756	234601756	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:234601756G>A	uc002vuv.4	+	0	245	c.106G>A	c.(106-108)Gga>Aga	p.G36R	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Missense_Mutation_p.G36R	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	37					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CCCTCAGGACGGAAGCCACTG	0.483000														31			34		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173257	207173257	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:207173257C>T	uc002vbp.2	+	4	4255	c.4005C>T	c.(4003-4005)atC>atT	p.I1335I		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1335							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTCAAATATCCCTCTTCAGT	0.383000														18			16		0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2951235	2951235	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:2951235G>A	uc011mhj.2	+	8	1498	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	500						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCCTGACAATGAGCCATTATT	0.483000														11			9		0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171080110	171080110	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:171080110G>A	uc001ghi.3	+	5	910	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	FMO3_uc001ghh.3_Missense_Mutation_p.E267K|FMO3_uc010pmb.2_Missense_Mutation_p.E247K|FMO3_uc010pmc.2_Missense_Mutation_p.E204K	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	267					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTCAAGCATGAAAACTATGG	0.438000														38			32		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179701873	179701873	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:179701873G>A	uc002une.2	-	22	4191	c.4073C>T	c.(4072-4074)aCc>aTc	p.T1358I	CCDC141_uc002unf.1_Missense_Mutation_p.T837I	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	783							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCTATCTTGGGTTTTAGTGAA	0.498000														14			19		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43307400	43307400	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:43307400G>A	uc003oux.3	-	9	4414	c.4336C>T	c.(4336-4338)Cca>Tca	p.P1446S	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1446	Pro-rich.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ggtgggggtggtggaggaggt	0.507000														13			19		0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50227709	50227709	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr10:50227709C>T	uc001jhf.2	-	7	978	c.949G>A	c.(949-951)Gag>Aag	p.E317K		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	317						integral to membrane|plasma membrane		p.E316*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AGCTTGTTCTCCTCGAAGAGG	0.512000														7			24		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10354108	10354108	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:10354108C>T	uc002gmn.3	-	28	4081	c.3970G>A	c.(3970-3972)Gaa>Aaa	p.E1324K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1324					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTCTCCTCTTCTAGCTGCCTC	0.388000														44			9		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23863310	23863310	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr14:23863310C>T	uc001wjv.3	-	20	2723	c.2652G>A	c.(2650-2652)caG>caA	p.Q884Q		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	884					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CATTCTTCTCCTGCAGCAGGG	0.577000														1			21		0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	418967	418967	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:418967G>A	uc001lpi.2	-	20	2042	c.1957C>T	c.(1957-1959)Cac>Tac	p.H653Y	SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Missense_Mutation_p.H346Y|ANO9_uc010qvv.1_Missense_Mutation_p.H509Y	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	653						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GACAGGCTGTGGTTGACGTAG	0.622000														42			34		0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2483003	2483003	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:2483003T>G	uc002cqd.1	+	2	301	c.213T>G	c.(211-213)agT>agG	p.S71R	CCNF_uc002cqe.1_Intron	NM_001761	NP_001752	P41002	CCNF_HUMAN	Homo sapiens cyclin F (CCNF), mRNA.	71	F-box.				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination	SCF ubiquitin ligase complex|centriole|nucleus	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				ACCACGCCAGTGTGTGGGCAT	0.602000														10			4		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31294300	31294300	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:31294300G>A	uc003jhe.2	+	2	820	c.460G>A	c.(460-462)Gac>Aac	p.D154N	CDH6_uc003jhd.2_Missense_Mutation_p.D154N	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	154	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGACATCAATGACAATGAACC	0.468000														73			73		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179495665	179495665	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:179495665C>T	uc021vsy.1	-	186	36541	c.36316G>A	c.(36316-36318)Gaa>Aaa	p.E12106K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E5801K|TTN_uc021vta.1_Missense_Mutation_p.E5734K|TTN_uc021vtb.1_Missense_Mutation_p.E5609K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13033	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E12105V(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)			AGTTTAATTTCCCGATCTAGA	0.478000														27			12		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479988	142479988	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:142479988C>T	uc011ksq.2	+	1	203	c.120C>T	c.(118-120)tcC>tcT	p.S40S	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		ACCAGGTGTCCTTGAATTCTG	0.557000														53			80		0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102743697	102743697	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:102743697G>A	uc001phk.3	-	1	345	c.248C>T	c.(247-249)aCc>aTc	p.T83I		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	83					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	CATCTCCAGGGTAGATGTGTC	0.468000														10			4		0	0	1	0	0
TWSG1	57045	broad.mit.edu	37	18	9396355	9396355	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr18:9396355C>T	uc002knz.3	+	3	492	c.301C>T	c.(301-303)Cct>Tct	p.P101S	TWSG1_uc002koa.3_Missense_Mutation_p.P26S	NM_020648	NP_065699	Q9GZX9	TWSG1_HUMAN	Homo sapiens twisted gastrulation homolog 1 (Drosophila) (TWSG1), mRNA.	101								p.I100fs*10(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						TGAACCGATCCCTTCTCTCTT	0.448000														46			18		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151846058	151846058	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:151846058G>A	uc003wla.3	-	51	13173	c.12954C>T	c.(12952-12954)gtC>gtT	p.V4318V	MLL3_uc003wkz.3_Silent_p.V3436V|MLL3_uc003wkx.3_Silent_p.V476V|MLL3_uc003wky.3_Silent_p.V1882V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4318					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCTTGGCCTCGACTTGGGCTG	0.552000			N		medulloblastoma									20			23		0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947008	57947008	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:57947008T>A	uc021qjm.1	+	0	92	c.92T>A	c.(91-93)tTt>tAt	p.F31Y	OR9Q1_uc001nmj.3_Missense_Mutation_p.F31Y	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TTCCTCTTGTTTTTATTTATG	0.443000														31			25		0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102822852	102822852	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:102822852G>A	uc001phl.3	-	4	717	c.688C>T	c.(688-690)Ctt>Ttt	p.L230F		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	230					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GAGTGGTCAAGACCTAAGGAG	0.458000														40			21		0	0	1	0	0
MORN5	254956	broad.mit.edu	37	9	124929050	124929050	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr9:124929050G>A	uc011lyn.2	+	1	113	c.51G>A	c.(49-51)atG>atA	p.M17I	MORN5_uc011lyo.1_Missense_Mutation_p.M17I|MORN5_uc004blw.2_Missense_Mutation_p.M17I	NM_198469	NP_940871	Q5VZ52	MORN5_HUMAN	Homo sapiens MORN repeat containing 5 (MORN5), mRNA.	17										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						TTTACAGGATGGAGGGCAAAG	0.532000														1			6		0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20229965	20229965	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:20229965G>A	uc002nor.2	+	3	1741	c.1602G>A	c.(1600-1602)gcG>gcA	p.A534A	ZNF90_uc021url.1_Intron	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.	534						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						ATACTGGAGCGAAACCCTACA	0.413000														15			7		0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155156498	155156498	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:155156498C>T	uc001fhs.1	+	9	2195	c.2112C>T	c.(2110-2112)ttC>ttT	p.F704F	TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Silent_p.F578F|TRIM46_uc001fhu.1_Silent_p.F681F|TRIM46_uc001fhw.1_Non-coding_Transcript|TRIM46_uc021pao.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	704	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGGTTTCCTTCCTGGATGCTG	0.667000														37			26		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166165233	166165233	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:166165233C>T	uc002udc.3	+	4	824	c.534C>T	c.(532-534)ggC>ggT	p.G178G	SCN2A_uc002udd.3_Silent_p.G178G|SCN2A_uc002ude.3_Silent_p.G178G	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	178					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTGCAAGGGGCTTTTGTTTAG	0.323000														27			27		0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166891994	166891994	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:166891994G>A	uc001gdx.2	-	7	1103	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	349						integral to membrane		p.F349F(2)		NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AAGACTGGCGGAAATTGCTGT	0.488000														69			48		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142568095	142568095	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:142568095G>A	uc011kst.2	+	17	3523	c.2736G>A	c.(2734-2736)gtG>gtA	p.V912V	EPHB6_uc011ksu.2_Silent_p.V912V|EPHB6_uc003wbs.3_Silent_p.V620V|EPHB6_uc003wbt.3_Silent_p.V386V|EPHB6_uc003wbu.3_Silent_p.V620V|EPHB6_uc003wbv.3_Silent_p.V296V	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	912	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ACCAGCTGGTGGCTGCATTTG	0.607000														87			102		0	0	1	0	0
OSM	5008	broad.mit.edu	37	22	30659929	30659929	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr22:30659929C>T	uc003ahb.3	-	2	743	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_020530	NP_065391	P13725	ONCM_HUMAN	Homo sapiens oncostatin M (OSM), mRNA.	234					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			AGGGTCTGGTCCTGCGCACCC	0.667000														91			85		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171055880	171055880	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:171055880G>A	uc002ufy.3	+	1	308	c.165G>A	c.(163-165)gtG>gtA	p.V55V	MYO3B_uc002ufv.3_Silent_p.V42V|MYO3B_uc010fqb.1_Silent_p.V55V|MYO3B_uc002ufz.3_Silent_p.V55V|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002uga.3_Silent_p.V42V	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	55	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGGCTGCAGTGAAAATTCTGG	0.393000														18			13		0	0	1	0	0
SLC7A10	56301	broad.mit.edu	37	19	33706862	33706862	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:33706862C>T	uc002num.2	-	1	316	c.169G>A	c.(169-171)Ggc>Agc	p.G57S	SLC7A10_uc010xrq.2_Intron	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	57					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					ATGAAGATGCCCGAGCCGATG	0.677000														4			4		0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444196	5444196	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:5444196C>T	uc010qzd.2	+	0	856	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCTACATTCCCATGGTTGG	0.517000														21			19		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101581202	101581202	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:101581202C>T	uc001thz.4	-	6	1315	c.925G>A	c.(925-927)Gat>Aat	p.D309N		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	309					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTCCAAGGATCACAGTCATGG	0.433000														2			19		0	0	1	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776435	159776435	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:159776435C>T	uc003lyd.3	-	2	737	c.733G>A	c.(733-735)Gac>Aac	p.D245N		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA.	200	C1q.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCGTGATGTCGTAGGTGAAG	0.572000														8			29		0	0	1	0	0
FAM155B	27112	broad.mit.edu	37	X	68749603	68749603	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:68749603C>T	uc004dxk.3	+	2	1271	c.1223C>T	c.(1222-1224)cCa>cTa	p.P408L		NM_015686	NP_056501	O75949	F155B_HUMAN	Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA.	409						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						caTGATCCCCCAGGCCGTGTC	0.612000														23			21		0	0	1	0	0
CCDC74B	91409	broad.mit.edu	37	2	130900019	130900019	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:130900019C>T	uc010yzw.1	-	1	1281	c.537G>A	c.(535-537)cgG>cgA	p.R179R	CCDC74B_uc002tqm.1_Intron|CCDC74B_uc002tqn.1_Intron|CCDC74B_uc010yzx.1_3'UTR			Q96LY2	CC74B_HUMAN	Homo sapiens coiled-coil domain containing 74B (CCDC74B), mRNA.	161										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TGGCCTCTTCCCGTGTCCTGT	0.632000														32			14		0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57946956	57946956	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:57946956C>T	uc021qjm.1	+	0	40	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F	OR9Q1_uc001nmj.3_Missense_Mutation_p.L14F	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				CGAGTTCCTCCTTATTGCATT	0.438000														25			16		0	0	1	0	0
HSD17B6	8630	broad.mit.edu	37	12	57167846	57167846	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:57167846G>A	uc001smg.1	+	1	320	c.210G>A	c.(208-210)agG>agA	p.R70R		NM_003725	NP_003716	O14756	H17B6_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse) (HSD17B6), mRNA.	70					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	AGCAGCTGAGGGGCCAGACGT	0.617000														20			23		0	0	1	0	0
CDKN1A	1026	broad.mit.edu	37	6	36653556	36653556	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:36653556C>T	uc021yzb.1	+	3	576	c.474C>T	c.(472-474)atC>atT	p.I158I	CDKN1A_uc021yzc.1_Silent_p.I158I|CDKN1A_uc011dtq.2_Silent_p.I192I|CDKN1A_uc003omm.4_Silent_p.I158I|CDKN1A_uc003omn.3_Silent_p.I158I	NM_078467	NP_510867	P38936	CDN1A_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A), transcript variant 2, mRNA.	158					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|stress-induced premature senescence	PCNA-p21 complex|cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GCCGGCTGATCTTCTCCAAGA	0.577000														136			151		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718360	103718360	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr13:103718360G>A	uc001vpy.4	-	0	837	c.240C>T	c.(238-240)ccC>ccT	p.P80P		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	80					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATCCTGTGAGGGGCATGATTC	0.527000														45			18		0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5968693	5968693	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:5968693C>T	uc010qzt.2	+	0	117	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTCCTTTTCCTCTTGGCCG	0.592000														26			15		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101196777	101196777	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:101196777G>A	uc001dti.3	+	5	1449	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	VCAM1_uc010ouj.2_Missense_Mutation_p.E348K|VCAM1_uc001dtj.3_Missense_Mutation_p.E318K	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	410	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TCCAGAAATCGAGATGAGTGG	0.428000														8			23		0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95712378	95712378	+	Silent	SNP	A	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:95712378A>G	uc001pfw.1	-	4	4490	c.3205T>C	c.(3205-3207)Ttg>Ctg	p.L1069L		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	1069					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GACTGATTCAACCCTGTTCCT	0.502000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid									15			11		0	0	1	0	0
AK302514	0	broad.mit.edu	37	6	66013274	66013274	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:66013274G>A	uc011dxv.2	+	1	1551	c.860G>A	c.(859-861)cGa>cAa	p.R287Q	EYS_uc011dxu.1_Intron					SubName: Full=cDNA FLJ60373, highly similar to Zinc finger CCCH domain-containing protein11A;																		CTGGGGAAACGAAAATTTTCG	0.478000														11			3		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2163283	2163283	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:2163283G>A	uc002cos.1	-	11	3073	c.2864C>T	c.(2863-2865)cCc>cTc	p.P955L	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.P955L	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	955	PKD 4.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTCCACCACGGGGCTGTACCT	0.612000														86			61		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807472	143807472	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:143807472G>A	uc011ktz.2	+	0	797	c.797G>A	c.(796-798)cGa>cAa	p.R266Q		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R266Q(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TCTAATCAACGAGAGGAGCAG	0.512000														101			105		0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27078748	27078748	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:27078748G>A	uc001rhk.4	-	5	1158	c.621C>T	c.(619-621)atC>atT	p.I207I	ASUN_uc010sjk.2_Silent_p.I106I	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA.	207					cell division|mitosis|regulation of mitotic cell cycle		protein binding										GGTAGGTGTGGATCAAGACCA	0.323000														8			18		0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114280739	114280739	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:114280739G>A	uc009wgp.1	-	3	776	c.324C>T	c.(322-324)ttC>ttT	p.F108F	PHTF1_uc001edn.3_Silent_p.F108F	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	Homo sapiens putative homeodomain transcription factor 1 (PHTF1), mRNA.	108						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACCTTGCATGAAATAAAGTA	0.343000														6			21		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50031800	50031800	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:50031800G>A	uc004dox.4	+	3	415	c.117G>A	c.(115-117)acG>acA	p.T39T	CCNB3_uc004doy.3_Silent_p.T39T|CCNB3_uc004doz.3_Silent_p.T39T|CCNB3_uc010njq.3_5'UTR	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	39					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATTGCCAAACGAAGATATCTC	0.418000														12			6		0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122398590	122398590	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:122398590C>T	uc009zxk.3	+	13	2392	c.2233C>T	c.(2233-2235)Cga>Tga	p.R745*	WDR66_uc021rfh.1_Nonsense_Mutation_p.R745*	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	745							calcium ion binding	p.R745*(2)		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)		CAAAAGCATTCGAAGTCTCCT	0.488000														4			37		0	0	1	0	0
IST1	9798	broad.mit.edu	37	16	71957234	71957234	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:71957234C>T	uc002fbj.1	+	9	1125	c.842C>T	c.(841-843)cCc>cTc	p.P281L	IST1_uc010cgh.1_Missense_Mutation_p.P281L|IST1_uc002fbk.1_Missense_Mutation_p.P268L|IST1_uc002fbm.1_Missense_Mutation_p.P268L|IST1_uc002fbl.1_Intron|IST1_uc010vml.1_Intron			P53990	IST1_HUMAN	Homo sapiens increased sodium tolerance 1 homolog (yeast) (IST1), mRNA.	266	Interaction with VTA1.				cell cycle|cell division	ER-Golgi intermediate compartment|cytoplasmic membrane-bounded vesicle	protein binding										CAGGCCTTTCCCAATATTCAT	0.468000														31			18		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34118052	34118052	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:34118052C>T	uc001bxm.1	-	27	4634	c.4457G>A	c.(4456-4458)gGg>gAg	p.G1486E	CSMD2_uc001bxn.1_Missense_Mutation_p.G1446E|CSMD2_uc001bxo.1_Missense_Mutation_p.G359E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1446	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGGTCTCCCCCGCAGGGAGC	0.557000														11			41		0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50776748	50776748	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr20:50776748G>A	uc002xwl.3	-	4	1026	c.677C>T	c.(676-678)tCg>tTg	p.S226L	ZFP64_uc002xwk.3_Missense_Mutation_p.S226L|ZFP64_uc002xwm.3_Missense_Mutation_p.S224L|ZFP64_uc002xwn.3_Missense_Mutation_p.S172L	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H225Y(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCGCTCGTCCGAGTGGATCCT	0.627000														75			62		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51165484	51165484	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:51165484G>A	uc002psx.1	-	22	6243	c.6224C>T	c.(6223-6225)tCc>tTc	p.S2075F	SHANK1_uc002psw.1_Missense_Mutation_p.S1459F	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	2075					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGGTGAGAGGGAGCGCGAGGC	0.687000														7			26		0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101717755	101717755	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:101717755G>A	uc021sxt.1	-	2	2723	c.2247C>T	c.(2245-2247)gtC>gtT	p.V749V	CHSY1_uc010usd.2_Silent_p.V477V	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	749					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GATCACAAAAGACAGGATGGT	0.532000														27			16		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423512	26423512	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr22:26423512C>T	uc003abz.1	+	42	7822	c.7572C>T	c.(7570-7572)atC>atT	p.I2524I	MYO18B_uc003aca.1_Silent_p.I2405I|MYO18B_uc010guy.1_Silent_p.I2406I|MYO18B_uc010guz.1_Silent_p.I2404I|MYO18B_uc011aka.1_Silent_p.I1678I|MYO18B_uc011akb.1_Silent_p.I2037I|MYO18B_uc010gva.1_Silent_p.I507I|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2524						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTGACAGCATCAAAAGTCGAC	0.597000														20			13		0	0	1	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14977506	14977506	+	Silent	SNP	C	T	T	rs146832860	byFrequency	TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr10:14977506C>T	uc001inn.3	-	5	505	c.420G>A	c.(418-420)gcG>gcA	p.A140A	DCLRE1C_uc010qbx.2_Silent_p.A140A|DCLRE1C_uc001inl.3_Silent_p.A20A|DCLRE1C_uc001inr.3_Silent_p.A25A|DCLRE1C_uc009xji.3_Silent_p.A25A|DCLRE1C_uc001inm.3_Silent_p.A20A|DCLRE1C_uc001ino.3_Silent_p.A25A|DCLRE1C_uc009xjh.3_Non-coding_Transcript|DCLRE1C_uc001inp.3_Silent_p.A20A|DCLRE1C_uc001inq.3_Silent_p.A20A|DCLRE1C_uc021pni.1_Silent_p.A25A|DCLRE1C_uc009xjj.1_5'Flank	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	Homo sapiens DNA cross-link repair 1C (DCLRE1C), transcript variant a, mRNA.	140			A -> V.		DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CTTCTCCTTGCGCCAATCTGA	0.403000								Non-homologous end-joining						11			63		0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160664772	160664772	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:160664772G>A	uc003qtf.3	-	6	1285	c.1111C>T	c.(1111-1113)Ctt>Ttt	p.L371F		NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	371					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TCACCTGCAAGGCCCATGTGC	0.532000														19			12		0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18828730	18828730	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:18828730G>A	uc002dfm.3	-	56	10320	c.9957C>T	c.(9955-9957)gcC>gcT	p.A3319A	SMG1_uc010bwb.3_Silent_p.A3179A|SMG1_uc010bwa.3_Silent_p.A2050A	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	3319					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCAGGTTTAAGGCTTCTGCAG	0.413000														5			4		0	0	1	0	0
USP16	10600	broad.mit.edu	37	21	30422476	30422476	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr21:30422476C>T	uc002ymy.3	+	15	2372	c.2170C>T	c.(2170-2172)Cct>Tct	p.P724S	USP16_uc002ymx.3_Missense_Mutation_p.P723S|USP16_uc002ymw.3_Missense_Mutation_p.P724S|USP16_uc011acm.2_Missense_Mutation_p.P709S|USP16_uc011acn.2_Missense_Mutation_p.P390S|USP16_uc011aco.2_Missense_Mutation_p.P414S	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	Homo sapiens ubiquitin specific peptidase 16 (USP16), transcript variant 1, mRNA.	724					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AGATTTGGCTCCTTTTTGCAC	0.368000														15			12		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590578	156590578	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:156590578C>T	uc003lwn.3	-	1	798	c.698G>A	c.(697-699)gGg>gAg	p.G233E		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	233	Ala-rich.					nucleus		p.G233A(2)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCCTCTCCCCCAGCATAAGC	0.572000														11			37		0	0	1	0	0
GDPD2	54857	broad.mit.edu	37	X	69649858	69649858	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:69649858G>A	uc011mpk.2	+	11	1613	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	GDPD2_uc010nky.2_Silent_p.R270R|GDPD2_uc004dyh.3_Missense_Mutation_p.E418K|GDPD2_uc011mpl.2_Missense_Mutation_p.E339K|GDPD2_uc011mpm.2_Missense_Mutation_p.E339K	NM_001171192	NP_001164663	Q9HCC8	GDPD2_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 2 (GDPD2), transcript variant 1, mRNA.	418	GDPD.			E -> G (in Ref. 3; BAA91014).	glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CAACAGAACGGAGAGGCCCCA	0.507000														24			22		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	160195	160195	+	RNA	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrGL000192.1:160195C>T	uc010yih.1	-	11		c.2227G>A						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGGGAGCTTCCTCCATCCCT	0.617000														15			6		0	0	1	0	0
TMPPE	643853	broad.mit.edu	37	3	33135663	33135663	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:33135663G>A	uc003cfk.2	-	1	237	c.25C>T	c.(25-27)Cta>Tta	p.L9L	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Intron|TMPPE_uc021wux.1_Silent_p.L9L	NM_001039770	NP_001129710	Q6ZT21	TMPPE_HUMAN	Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA.	9						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						TTCGCGCCTAGGGACAGCTGC	0.582000														17			26		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962840	73962840	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:73962840C>T	uc004eby.3	-	2	2169	c.1552G>A	c.(1552-1554)Gaa>Aaa	p.E518K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	518					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCATCATCTTCCTCTTTGGAA	0.378000														26			13		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69653823	69653823	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:69653823G>A	uc010kak.3	+	4	1408	c.1132G>A	c.(1132-1134)Gga>Aga	p.G378R	BAI3_uc003pev.4_Missense_Mutation_p.G378R	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	378	TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G378*(2)		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)				TCCTCAGTATGGAGGAAGGCC	0.453000														16			11		0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45545629	45545629	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:45545629G>A	uc001zva.2	+	3	147	c.82_splice	c.e3-1	p.E28_splice		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	28					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TGTGCTTGTAGGAAAAAGAAG	0.557000														9			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179654825	179654825	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:179654825C>T	uc021vsy.1	-	11	2043	c.1818G>A	c.(1816-1818)agG>agA	p.R606R	TTN_uc021vsz.1_Silent_p.R560R|TTN_uc021vta.1_Silent_p.R560R|TTN_uc021vtb.1_Silent_p.R560R|TTN_uc002unb.2_Silent_p.R606R|TTN_uc010frg.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	606							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)			CAACTGTTTTCCTAGTTTCCT	0.313000														23			13		0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31374421	31374421	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr20:31374421C>T	uc002wyc.3	+	4	741	c.420C>T	c.(418-420)ttC>ttT	p.F140F	DNMT3B_uc010ztx.1_Intron|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.3_Silent_p.F140F|DNMT3B_uc002wye.3_Silent_p.F140F|DNMT3B_uc010ztz.2_Intron|DNMT3B_uc010zua.2_Intron|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Silent_p.F152F	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	140	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCGTGGAGTTCCCGGCTACCA	0.627000														34			31		0	0	1	0	0
MBD3	53615	broad.mit.edu	37	19	1581196	1581196	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:1581196G>A	uc002ltj.3	-	4	594	c.572C>T	c.(571-573)cCc>cTc	p.P191L	MBD3_uc002ltk.3_Missense_Mutation_p.P159L|MBD3_uc002ltl.1_Missense_Mutation_p.P191L	NM_003926	NP_003917	O95983	MBD3_HUMAN	Homo sapiens methyl-CpG binding domain protein 3 (MBD3), mRNA.	191					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCGTGATGGGCATGGTGCT	0.652000														17			14		0	0	1	0	0
AGPAT9	84803	broad.mit.edu	37	4	84502744	84502744	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:84502744G>A	uc003how.3	+	3	456	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	AGPAT9_uc003hox.3_Missense_Mutation_p.E80K|AGPAT9_uc003hoy.3_Missense_Mutation_p.E80K	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.	80					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				GTCACCCATGGAAAAAGGGCT	0.423000														40			29		0	0	1	0	0
IL10RA	3587	broad.mit.edu	37	11	117859097	117859097	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:117859097G>A	uc001prv.3	+	2	145	c.68_splice	c.e2-1	p.G23_splice	IL10RA_uc010rxl.2_Splice_Site_p.R3_splice|IL10RA_uc010rxm.2_Splice_Site_p.R3_splice|IL10RA_uc010rxn.2_Splice_Site|IL10RA_uc001prw.3_5'UTR	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	23						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TTCTCCCCAGGGACAGAGCTG	0.532000														23			20		0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1568274	1568274	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:1568274G>A	uc002cmb.3	-	29	4487	c.4125C>T	c.(4123-4125)atC>atT	p.I1375I	IFT140_uc002clz.3_Silent_p.I988I	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	1375										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AGACGTCCCCGATGCGGATGG	0.597000														32			14		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228553785	228553785	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:228553785C>T	uc009xez.1	+	82	19118	c.19074C>T	c.(19072-19074)tcC>tcT	p.S6358S	OBSCN_uc001hsr.1_Silent_p.S987S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6358	Ig-like 54.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.A6358V(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCCCCATCCATGCAGGTAA	0.627000														45			32		0	0	1	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057511	46057511	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr21:46057511C>T	uc002zfq.3	+	0	239	c.177C>T	c.(175-177)ccC>ccT	p.P59P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.	59	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CCTGTGAGCCCAGCGCCTGCC	0.672000														32			58		0	0	1	0	0
CRHR2	1395	broad.mit.edu	37	7	30693177	30693177	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:30693177C>T	uc003tbn.3	-	11	1380	c.1135G>A	c.(1135-1137)Gac>Aac	p.D379N	CRHR2_uc010kvw.2_3'UTR|CRHR2_uc010kvx.2_Missense_Mutation_p.D378N|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_Missense_Mutation_p.D215N|CRHR2_uc003tbo.3_Missense_Mutation_p.D365N|CRHR2_uc003tbp.3_Missense_Mutation_p.D406N	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA.	379					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.D379E(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGTGATGGTCCTGCCAGCGG	0.642000														54			51		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023637	76023637	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:76023637C>T	uc010kbe.3	-	5	2450	c.1920G>A	c.(1918-1920)gaG>gaA	p.E640E	FILIP1_uc003phy.1_Silent_p.E637E|FILIP1_uc003phz.3_Silent_p.E538E|FILIP1_uc003pia.3_Silent_p.E637E|FILIP1_uc003pib.1_Silent_p.E389E	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	637										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTTCAGTCTCTCAATTTCAA	0.418000														70			52		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106471673	106471673	+	RNA	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr14:106471673C>T	uc021ser.1	-	2491		c.43402G>A								Parts of antibodies, mostly variable regions.																		TCCTCCAGGTCCAGTCCATGG	0.547000														2			19		0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119708453	119708453	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:119708453C>T	uc004esw.3	-	1	457	c.20G>A	c.(19-21)gGa>gAa	p.G7E		NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	7	Ser-rich.				DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATCTCCTGATCCAGATGACTG	0.388000														58			46		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1081530	1081530	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:1081530G>A	uc001lsx.1	+	11	1575	c.1548G>A	c.(1546-1548)ctG>ctA	p.L516L		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	516	VWFD 2.					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)	TTGTGACACTGGACCAGGCCT	0.642000														10			8		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103244871	103244871	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:103244871G>A	uc022ajr.1	-	22	3228	c.3068C>T	c.(3067-3069)gCt>gTt	p.A1023V	RELN_uc022ajq.1_Missense_Mutation_p.A1023V|RELN_uc010liz.3_Missense_Mutation_p.A1023V	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1023					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCTGTCCAAAGCCCACTCGTC	0.502000														24			31		0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42379497	42379497	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:42379497C>T	uc001zox.3	-	3	350	c.255_splice	c.e3+1	p.K85_splice		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	85	C2.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CGGGCCTTCACCTTGACCTGA	0.567000														97			36		0	0	1	0	0
KLK4	9622	broad.mit.edu	37	19	51411875	51411875	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:51411875C>T	uc002pua.1	-	2	435	c.435G>A	c.(433-435)ggG>ggA	p.G145G	KLK4_uc002pty.1_Silent_p.G96G|KLK4_uc002ptz.1_Non-coding_Transcript|KLK4_uc002pub.1_Silent_p.G50G|KLK4_uc002puc.1_Non-coding_Transcript|KLK4_uc010eoi.1_Silent_p.G50G|KLK4_uc002pud.1_Silent_p.G50G	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	Homo sapiens kallikrein-related peptidase 4 (KLK4), mRNA.	145	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GGCAAGAGTTCCCCGCGGTAG	0.612000														34			15		0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258567	56258567	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:56258567G>A	uc001nix.1	-	0	280	c.280C>T	c.(280-282)Cct>Tct	p.P94S	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AGACAGGCAGGATAGGAAATG	0.463000														19			19		0	0	1	0	0
POU6F1	5463	broad.mit.edu	37	12	51589769	51589769	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:51589769G>A	uc001rxy.3	-	1	425	c.233C>T	c.(232-234)tCc>tTc	p.S78F	POU6F1_uc001rxz.3_Missense_Mutation_p.S78F|POU6F1_uc001rya.3_Missense_Mutation_p.S78F	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	Homo sapiens POU class 6 homeobox 1 (POU6F1), transcript variant 1, mRNA.	78	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						CTTAGCAGGGGACTCAGGTGT	0.667000														3			7		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25715926	25715926	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:25715926C>T	uc003xes.2	-	13	1702	c.1437G>A	c.(1435-1437)atG>atA	p.M479I	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	479	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TGTAGCCATTCATACTGTTGC	0.522000														26			9		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140762958	140762958	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:140762958G>A	uc003lka.2	+	0	492	c.492G>A	c.(490-492)acG>acA	p.T164T	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_uc003ljz.1_Silent_p.T164T	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	164	Cadherin 2.				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)			ATGTGGGCACGAACTCCCTCC	0.512000														3			17		0	0	1	0	0
NCF4	4689	broad.mit.edu	37	22	37273838	37273838	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr22:37273838C>T	uc003apy.4	+	9	1177	c.993C>T	c.(991-993)aaC>aaT	p.N331N	NCF4_uc003apz.4_3'UTR	NM_000631	NP_000622	Q15080	NCF4_HUMAN	Homo sapiens neutrophil cytosolic factor 4, 40kDa (NCF4), transcript variant 1, mRNA.	331					cell communication|immune response|oxidation-reduction process	NADPH oxidase complex|cytosol	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						AGAAGGACAACTACAGGGTCT	0.597000														20			5		0	0	1	0	0
UBE2A	7319	broad.mit.edu	37	X	118708942	118708942	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:118708942C>T	uc004erl.3	+	1	299	c.123C>T	c.(121-123)ttC>ttT	p.F41F	UBE2A_uc004erm.3_Silent_p.F41F	NM_003336	NP_861442	P49459	UBE2A_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2A (UBE2A), transcript variant 1, mRNA.	41					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein autoubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						CGGTCATTTTCGGGTGAGTCT	0.662000								Rad6 pathway						40			37		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107021	168107021	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:168107021G>A	uc002udx.3	+	8	9208	c.9119G>A	c.(9118-9120)gGa>gAa	p.G3040E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G2865E|XIRP2_uc010fpq.3_Missense_Mutation_p.G2818E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2865					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCCAAAACAGGAAAACCGGGA	0.318000														48			39		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196643044	196643044	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:196643044G>A	uc001gtj.4	+	2	542	c.302G>A	c.(301-303)gGa>gAa	p.G101E	CFH_uc001gti.4_Missense_Mutation_p.G101E|CFH_uc009wyw.3_Missense_Mutation_p.G101E|CFH_uc009wyx.3_Missense_Mutation_p.G101E	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	101	Sushi 2.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTTACAGGAGGAAATGTGTTT	0.343000														33			24		0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29867531	29867531	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr18:29867531G>A	uc002kxl.3	-	3	1085	c.1029C>T	c.(1027-1029)gtC>gtT	p.V343V	FAM59A_uc002kxk.2_Silent_p.V343V	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	343										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						TCACATCACGGACAGCCCGTG	0.562000														20			30		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723467	7723467	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:7723467C>T	uc001aoi.3	+	8	1067	c.860C>T	c.(859-861)tCg>tTg	p.S287L		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.S287L(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGCATCATCTCGCCCAAGGTG	0.637000			T	WWTR1	epitheliod hemangioendothelioma									160			51		0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76877879	76877879	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:76877879C>T	uc001dhh.2	+	2	563	c.400C>T	c.(400-402)Cct>Tct	p.P134S	ST6GALNAC3_uc001dhg.4_Missense_Mutation_p.P134S|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.P69S	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.	134					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.V133I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TACCAGCGTTCCTCTTTTGCT	0.428000														23			44		0	0	1	0	0
IQSEC2	23096	broad.mit.edu	37	X	53284082	53284082	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:53284082G>A	uc004dsd.3	-	3	1232	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	IQSEC2_uc004dsc.3_Missense_Mutation_p.S139F|IQSEC2_uc022bxf.1_Missense_Mutation_p.S107F	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA.	334	IQ.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GCTCAGGAAGGAGCCCCCATA	0.587000														10			6		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19838948	19838948	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:19838948G>A	uc003jgd.3	-	2	682	c.148C>T	c.(148-150)Cgt>Tgt	p.R50C	CDH18_uc011cnm.2_Missense_Mutation_p.R50C|CDH18_uc003jgc.3_Missense_Mutation_p.R50C|CDH18_uc021xwu.1_Missense_Mutation_p.R50C	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	50					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R50C(3)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTTTTGGGACGATGATGGACT	0.418000														14			17		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59157994	59157994	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr18:59157994G>A	uc010dps.1	+	0	360	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	CDH20_uc002lif.2_Missense_Mutation_p.E64K	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	70	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TTTCGTTCTGGAAGAGTACAC	0.463000														40			31		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025448	16025448	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:16025448C>T	uc002nbu.2	-	10	1314	c.1278G>A	c.(1276-1278)ggG>ggA	p.G426G	CYP4F11_uc010eab.1_Intron|CYP4F11_uc002nbt.2_Silent_p.G426G	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	426					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGTAATGGATCCCGATAATAT	0.572000														44			30		0	0	1	0	0
PALM	5064	broad.mit.edu	37	19	746418	746418	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:746418C>T	uc002lpm.1	+	8	962	c.768C>T	c.(766-768)acC>acT	p.T256T	PALM_uc002lpn.1_Silent_p.T212T|PALM_uc010xfu.1_Silent_p.T121T	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	256					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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)|Lung(535;0.201)		CGGCAGAGACCCGGGGGGCTG	0.736000														10			9		0	0	1	0	0
AQP3	360	broad.mit.edu	37	9	33443839	33443839	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr9:33443839C>T	uc003zsx.3	-	1	263	c.160G>A	c.(160-162)Ggt>Agt	p.G54S	AQP3_uc010mju.3_Missense_Mutation_p.G54S|AQP3_uc003zsv.2_Missense_Mutation_p.G54S	NM_004925	NP_004916	Q92482	AQP3_HUMAN	Homo sapiens aquaporin 3 (Gill blood group) (AQP3), mRNA.	54					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		AGGAAACCACCGTGGGTGCCC	0.607000														2			10		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25565092	25565092	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr18:25565092G>A	uc002kwg.2	-	12	2540	c.2081C>T	c.(2080-2082)tCc>tTc	p.S694F	CDH2_uc010xbn.1_Missense_Mutation_p.S663F	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	694	Cadherin 5.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACGCAGGATGGAAATATTTGA	0.463000														16			10		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2321222	2321222	+	Missense_Mutation	SNP	G	A	A	rs149044769		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr20:2321222G>A	uc002wfx.4	+	12	2174	c.2077G>A	c.(2077-2079)Gaa>Aaa	p.E693K		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	693					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CGATGTAGCCGAATGAAGGGC	0.592000														42			29		0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37622085	37622085	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:37622085T>C	uc003onu.1	-	5	2126	c.947A>G	c.(946-948)aAc>aGc	p.N316S	MDGA1_uc003onw.3_5'Flank	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	316	Ig-like 3.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CTTGGCAGGGTTGCCCACATT	0.612000											OREG0017405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			4		0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123152300	123152300	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:123152300G>A	uc003vkn.3	-	1	672	c.95C>T	c.(94-96)cCc>cTc	p.P32L	IQUB_uc003vko.3_Missense_Mutation_p.P32L|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Missense_Mutation_p.P32L|IQUB_uc003vkq.2_Missense_Mutation_p.P32L	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	32										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CTCTTCTGAGGGAACTGGAAT	0.403000														39			19		0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86888817	86888817	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:86888817G>T	uc004efa.2	+	7	1800	c.1618G>T	c.(1618-1620)Gta>Tta	p.V540L	KLHL4_uc004efb.2_Missense_Mutation_p.V540L	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	540						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TCTAAATACTGTAGAAAGATG	0.418000														40			3		0.004672	0.004672	1	1	0
DZIP3	9666	broad.mit.edu	37	3	108405367	108405367	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:108405367C>T	uc003dxd.3	+	27	3507	c.3085C>T	c.(3085-3087)Ccc>Tcc	p.P1029S	DZIP3_uc003dxf.1_Missense_Mutation_p.P1029S|DZIP3_uc011bhm.2_Missense_Mutation_p.P480S	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	1029					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GCGGAGTGATCCCTCCATCAT	0.517000														44			66		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100569567	100569567	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:100569567G>A	uc003dun.3	-	13	1322	c.1237C>T	c.(1237-1239)Cgt>Tgt	p.R413C	ABI3BP_uc003duo.2_Missense_Mutation_p.R455C	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	413						extracellular space		p.R413C(2)		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						TCCAGAATACGATCACTTGTT	0.343000														13			10		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176983946	176983946	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:176983946C>T	uc001glc.3	-	7	1716	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	ASTN1_uc001glb.1_Missense_Mutation_p.E502K|ASTN1_uc001gld.1_Missense_Mutation_p.E502K|ASTN1_uc009wwx.1_Missense_Mutation_p.E502K|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	510	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane		p.E502K(2)		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						GTCCCCCATTCGTTCCGAATG	0.493000														188			171		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117632270	117632270	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:117632270G>A	uc003pxp.1	-	38	6345	c.6146C>T	c.(6145-6147)cCt>cTt	p.P2049L	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2049	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGTGAGTAAAGGACCATAAAA	0.333000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									10			8		0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29704336	29704337	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr22:29704336_29704337CC>TT	uc003afa.1	+	1	440_441	c.241_242CC>TT	c.(241-243)ccg>TTg	p.P81L	GAS2L1_uc010gvm.1_Missense_Mutation_p.P81L|GAS2L1_uc003afb.1_Missense_Mutation_p.P81L|GAS2L1_uc003afc.1_Missense_Mutation_p.P81L|GAS2L1_uc003afd.1_Missense_Mutation_p.P81L|GAS2L1_uc003afe.1_Missense_Mutation_p.P81L	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	Homo sapiens growth arrest-specific 2 like 1 (GAS2L1), transcript variant 2, mRNA.	81	CH.				cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						AGCCGCCCGCCCGGCCCGAGGT	0.693000														12			13		0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14763875	14763875	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr18:14763875G>A	uc010dlo.2	+	6	1191	c.1011G>A	c.(1009-1011)agG>agA	p.R337R	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Silent_p.R337R	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	337										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAACACCTAGGAAAATTTTGA	0.418000														9			4		0	0	1	0	0
CGB8	94115	broad.mit.edu	37	19	49557612	49557612	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:49557612G>A	uc002pmd.3	-	2	1654	c.434C>T	c.(433-435)cCc>cTc	p.P145L	CGB8_uc002pmc.3_Intron|CGB8_uc002pme.3_Missense_Mutation_p.P145L	NM_033142	NP_149133	P01233	CGHB_HUMAN	Homo sapiens chorionic gonadotropin, beta polypeptide 7 (CGB7), mRNA.	145					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			pancreas(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	AAGGCTGGGGGGAGGGGCCTT	0.642000														72			27		0	0	1	0	0
TAAR5	9038	broad.mit.edu	37	6	132910384	132910384	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:132910384C>T	uc003qdk.2	-	0	494	c.442G>A	c.(442-444)Gtg>Atg	p.V148M		NM_003967	NP_003958	O14804	TAAR5_HUMAN	Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA.	148					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GCCACCCTCACTGTGAACTTG	0.547000														15			16		0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9892241	9892241	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:9892241G>A	uc003gmc.3	-	8	1269	c.1208C>T	c.(1207-1209)aCc>aTc	p.T403I	SLC2A9_uc003gmd.3_Missense_Mutation_p.T374I	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	403					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.G403D(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CACCTGCAGGGTCAGCGTGAT	0.532000														20			10		0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154473970	154473970	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:154473970G>A	uc001ffb.3	-	0	557	c.533C>T	c.(532-534)tCc>tTc	p.S178F	SHE_uc001ffc.3_Non-coding_Transcript|TDRD10_uc001ffd.3_5'Flank|TDRD10_uc009wow.3_5'Flank	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Homo sapiens Src homology 2 domain containing E (SHE), mRNA.	178	Ser-rich.									breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ggaggaaggggaagaggacgc	0.572000														23			27		0	0	1	0	0
MKRN2	23609	broad.mit.edu	37	3	12623639	12623639	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:12623639G>A	uc003bxd.3	+	7	1194	c.1138G>A	c.(1138-1140)Gat>Aat	p.D380N	MKRN2_uc011aus.2_Missense_Mutation_p.D337N	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN	Homo sapiens makorin ring finger protein 2 (MKRN2), mRNA.	380						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						GCGGCTCTGGGATTTCATCGA	0.498000														91			115		0	0	1	0	0
C1QA	712	broad.mit.edu	37	1	22965712	22965712	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:22965712C>T	uc001bfy.3	+	2	635	c.550C>T	c.(550-552)Cga>Tga	p.R184*		NM_015991	NP_057075	P02745	C1QA_HUMAN	Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA.	184	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	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)	GGGCCAGGTCCGACGCTCCCT	0.602000														61			14		0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138633289	138633289	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:138633289C>T	uc004fas.1	+	5	618	c.589C>T	c.(589-591)Cct>Tct	p.P197S	F9_uc004fat.1_Missense_Mutation_p.P159S	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	197					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GACTGTTTTTCCTGATGTGGA	0.388000														36			26		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129774250	129774250	+	Missense_Mutation	SNP	C	T	T	rs140574226		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:129774250C>T	uc021zfb.1	+	45	6652	c.6547C>T	c.(6547-6549)Ctc>Ttc	p.L2183F	LAMA2_uc003qbn.3_Missense_Mutation_p.L2181F|LAMA2_uc003qbo.3_Missense_Mutation_p.L2181F	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2183	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGATAACCTCCTCTTTTATCT	0.348000														18			12		0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198257053	198257053	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:198257053G>A	uc002uue.3	-	24	3937	c.3889C>T	c.(3889-3891)Cgt>Tgt	p.R1297C		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	1297					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding	p.R1297H(1)		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)			AGTTCATAACGAATATAGGTG	0.328000			Mis		myelodysplastic syndrome									20			14		0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95825586	95825586	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:95825586G>A	uc001pfw.1	-	1	2894	c.1609C>T	c.(1609-1611)Ctc>Ttc	p.L537F		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	537					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CTTCGACTGAGATCCTGAGGC	0.532000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid									10			11		0	0	1	0	0
PHAX	51808	broad.mit.edu	37	5	125939354	125939354	+	Silent	SNP	G	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:125939354G>T	uc003kua.2	+	1	237	c.189G>T	c.(187-189)gtG>gtT	p.V63V		NM_032177	NP_115553	Q9H814	PHAX_HUMAN	Homo sapiens phosphorylated adaptor for RNA export (PHAX), mRNA.	63	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						TTGAAAGTGTGGATTCAAGTG	0.453000														65			38		1.60099e-16	1.62545e-16	1	1	0
C18orf34	374864	broad.mit.edu	37	18	30825328	30825328	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr18:30825328C>T	uc010xbr.1	-	13	1616	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	C18orf34_uc010dme.1_Missense_Mutation_p.D6N|C18orf34_uc002kxn.2_Missense_Mutation_p.D492N|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.D492N|C18orf34_uc002kxp.3_Missense_Mutation_p.D492N	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	492										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						AGATGTTTATCATTCTTTAAC	0.289000														7			11		0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135848596	135848596	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:135848596A>G	uc010fnf.3	+	3	222	c.179A>G	c.(178-180)gAg>gGg	p.E60G	RAB3GAP1_uc002tuj.3_Missense_Mutation_p.E60G|RAB3GAP1_uc010fng.3_5'UTR|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	60						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		ACATGGGAAGAGAAATCAGAT	0.333000														34			36		0	0	1	0	0
FAM117A	81558	broad.mit.edu	37	17	47788683	47788683	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:47788683G>A	uc002ipk.3	-	7	1365	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	FAM117A_uc010wlz.2_Silent_p.F160F	NM_030802	NP_110429	Q9C073	F117A_HUMAN	Homo sapiens family with sequence similarity 117, member A (FAM117A), mRNA.	432	Pro-rich.									haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						GCCATGGCTCGAATGGCAGTG	0.637000														9			14		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76471196	76471196	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:76471196G>A	uc003yaq.3	+	8	1176	c.906G>A	c.(904-906)atG>atA	p.M302I	HNF4G_uc003yar.3_Missense_Mutation_p.M339I	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	302					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CGTGGCAAATGATTGAGCAAA	0.428000														51			42		0	0	1	0	0
GIPC3	126326	broad.mit.edu	37	19	3589508	3589508	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:3589508G>A	uc002lyd.4	+	3	687	c.660G>A	c.(658-660)gaG>gaA	p.E220E		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA.	220										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGGAGGGAGACCCTGCGGC	0.612000														30			26		0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97051540	97051540	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:97051540G>A	uc003pos.2	+	2	467	c.51G>A	c.(49-51)ggG>ggA	p.G17G	FHL5_uc003pot.2_Silent_p.G17G	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	17						nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CACTTCTTGGGAAGAAATATG	0.343000														14			7		0	0	1	0	0
ZC4H2	55906	broad.mit.edu	37	X	64140043	64140043	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:64140043C>T	uc004dvu.3	-	2	472	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	ZC4H2_uc004dvv.3_Missense_Mutation_p.E83K|ZC4H2_uc022byd.1_Missense_Mutation_p.E83K|ZC4H2_uc022byc.1_Missense_Mutation_p.E83K|ZC4H2_uc011mow.2_Missense_Mutation_p.E106K|ZC4H2_uc011mov.2_Missense_Mutation_p.E83K|ZC4H2_uc004dvw.2_Missense_Mutation_p.E106K	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	106							metal ion binding|protein binding	p.E106*(2)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCCACATGTTCTTTCAGTGGC	0.483000														41			41		0	0	1	0	0
GZMA	3001	broad.mit.edu	37	5	54405998	54405998	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:54405998G>C	uc003jpm.3	+	4	814	c.777G>C	c.(775-777)aaG>aaC	p.K259N		NM_006144	NP_006135	P12544	GRAA_HUMAN	Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA), mRNA.	259	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TGACTATCAAGGGAGCAGTTT	0.378000														42			14		0	0	1	0	0
CLRN2	645104	broad.mit.edu	37	4	17517087	17517087	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:17517087C>T	uc003gpg.1	+	0	300	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN	Homo sapiens clarin 2 (CLRN2), mRNA.	66						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						ACGGGCTCTTCCGAGGGTGTA	0.517000														23			25		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26351197	26351197	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr22:26351197C>T	uc003abz.1	+	38	6273	c.6023C>T	c.(6022-6024)tCa>tTa	p.S2008L	MYO18B_uc003aca.1_Missense_Mutation_p.S1889L|MYO18B_uc010guy.1_Missense_Mutation_p.S1890L|MYO18B_uc010guz.1_Missense_Mutation_p.S1888L|MYO18B_uc011aka.1_Missense_Mutation_p.S1162L|MYO18B_uc011akb.1_Missense_Mutation_p.S1521L|MYO18B_uc010gva.1_Missense_Mutation_p.S6L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2008	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAGGAGCTTTCACAGGCGGCC	0.652000														14			11		0	0	1	0	0
NEU3	10825	broad.mit.edu	37	11	74705593	74705593	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:74705593C>T	uc001ovw.3	+	1	290	c.134C>T	c.(133-135)cCt>cTt	p.P45L	NEU3_uc001ovv.3_Missense_Mutation_p.P35L|NEU3_uc010rrl.2_Intron	NM_006656	NP_006647	A8K327	A8K327_HUMAN	Homo sapiens sialidase 3 (membrane sialidase) (NEU3), mRNA.	45										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						TTCAACAGCCCTCTGTTCCGG	0.522000														32			17		0	0	1	0	0
FAM19A2	338811	broad.mit.edu	37	12	62147517	62147517	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:62147517C>T	uc001sqw.3	-	3	1852	c.270G>A	c.(268-270)gtG>gtA	p.V90V	FAM19A2_uc001sqv.3_Non-coding_Transcript|FAM19A2_uc001sqx.3_Silent_p.V90V|FAM19A2_uc001sqy.3_Non-coding_Transcript	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA.	90						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		ATTTCTGTTCCACTATTGAAG	0.388000														37			33		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143089673	143089673	+	Splice_Site	SNP	T	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:143089673T>A	uc003qjd.3	-	6	5931	c.5188_splice	c.e6-1	p.M1730_splice		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1730					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCAGGTTTCATCTGTAAGACA	0.398000														13			10		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304634	10304634	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:10304634G>A	uc002gmm.2	-	23	3161	c.3066C>T	c.(3064-3066)atC>atT	p.I1022I	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1022					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTTTGGTCAGGATGTTGACTT	0.403000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					53			55		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74623427	74623427	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:74623427G>A	uc002axo.3	+	13	2045	c.1651G>A	c.(1651-1653)Gag>Aag	p.E551K	CCDC33_uc002axp.3_Missense_Mutation_p.E373K|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Missense_Mutation_p.E144K|CCDC33_uc002axr.3_Missense_Mutation_p.E144K	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	754							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GAAGGCGCTGGAGGAGACTGT	0.632000														28			5		0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16748444	16748444	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:16748444G>A	uc001ayn.3	-	3	540	c.57C>T	c.(55-57)ttC>ttT	p.F19F	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Intron	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA.	19							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TGGATGGCAGGAAGGGGTTGA	0.577000														32			99		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63489391	63489391	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr18:63489391G>A	uc002lkb.3	+	4	1126	c.700G>A	c.(700-702)Gat>Aat	p.D234N	CDH7_uc002ljz.3_Missense_Mutation_p.D234N|CDH7_uc002lka.3_Missense_Mutation_p.D234N	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	234	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TCAGGCAAAGGATATGGTTGG	0.423000														11			23		0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111665207	111665207	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr9:111665207G>T	uc004bdm.4	-	15	2286	c.1766C>A	c.(1765-1767)gCt>gAt	p.A589D	IKBKAP_uc004bdl.3_Missense_Mutation_p.A240D|IKBKAP_uc011lwc.2_Missense_Mutation_p.A475D|IKBKAP_uc010mtq.3_Missense_Mutation_p.A240D	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	589					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGGTTTAATAGCCAGAGAAGG	0.428000														8			3		6.4e-05	6.41206e-05	1	1	0
CCR7	1236	broad.mit.edu	37	17	38711757	38711757	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:38711757C>T	uc002huw.3	-	2	449	c.374G>A	c.(373-375)gGt>gAt	p.G125D		NM_001838	NP_001829	P32248	CCR7_HUMAN	Homo sapiens chemokine (C-C motif) receptor 7 (CCR7), mRNA.	125					T cell costimulation|cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				AAAGTGGACACCGAAGACCCA	0.547000														24			12		0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36287351	36287351	+	Missense_Mutation	SNP	C	T	T	rs138094812	byFrequency	TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:36287351C>T	uc003oly.3	-	10	1883	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	569										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TCCGAGAACTCGTAAAAAAAC	0.572000														66			10		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096661	167096661	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:167096661G>A	uc001geb.1	+	4	2309	c.2293G>A	c.(2293-2295)Gat>Aat	p.D765N		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	765					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.G764V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CTGCCTGGGGGATGACCAAGT	0.567000														24			33		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41990568	41990568	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:41990568C>T	uc001cgz.4	-	5	6434	c.5221G>A	c.(5221-5223)Gaa>Aaa	p.E1741K	HIVEP3_uc001cha.4_Missense_Mutation_p.E1741K|HIVEP3_uc001cgy.3_Intron	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1741					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ACATACTCTTCGTTTGATTTG	0.493000														37			9		0	0	1	0	0
LMF1	64788	broad.mit.edu	37	16	921242	921242	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:921242G>A	uc021tae.1	-	6	1001	c.997C>T	c.(997-999)Ccc>Tcc	p.P333S	LMF1_uc010brg.2_5'Flank|LMF1_uc010uuu.2_Missense_Mutation_p.P116S|LMF1_uc021tad.1_Missense_Mutation_p.P164S|LMF1_uc010bri.2_Missense_Mutation_p.P96S|LMF1_uc002ckk.2_Missense_Mutation_p.P116S	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA.	333						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GGCCCAGAGGGGAACAAGAAT	0.642000														14			10		0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100238652	100238652	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:100238652C>T	uc003uvv.1	-	1	302	c.233G>A	c.(232-234)gGa>gAa	p.G78E	TFR2_uc003uvw.1_Missense_Mutation_p.G78E	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	78					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGCCCTCCGTCCTGCTGCCGC	0.677000														25			3		0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113857486	113857486	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:113857486G>A	uc010rxb.2	+	6	1203	c.970G>A	c.(970-972)Gag>Aag	p.E324K	HTR3A_uc010rxa.2_Intron|HTR3A_uc009yyx.3_Intron|HTR3A_uc010rxc.2_Intron	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	305					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TCAGTCTGGTGAGAAACCCGC	0.597000														25			27		0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32475374	32475374	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:32475374C>T	uc002roi.3	-	3	1820	c.1559G>A	c.(1558-1560)gGa>gAa	p.G520E	NLRC4_uc021vfq.1_Missense_Mutation_p.G520E|NLRC4_uc002roj.2_Missense_Mutation_p.G520E|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	520					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GATGGAAAGTCCGAGAAGGCA	0.502000														13			22		0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263017	248263017	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:248263017C>T	uc001ids.3	+	2	677	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L	OR2L13_uc021pmc.1_Silent_p.L114L	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.L113L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			AGGCTTACTCCTGACCTCCAT	0.507000														103			78		0	0	1	0	0
AURKAIP1	54998	broad.mit.edu	37	1	1309550	1309550	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:1309550C>A	uc001afb.1	-	1	438	c.328G>T	c.(328-330)Gaa>Taa	p.E110*	AURKAIP1_uc001afc.2_Nonsense_Mutation_p.E110*|AURKAIP1_uc009vkb.1_Nonsense_Mutation_p.E110*|AURKAIP1_uc001afd.2_Nonsense_Mutation_p.E110*	NM_017900	NP_060370	Q9NWT8	AKIP_HUMAN	Homo sapiens aurora kinase A interacting protein 1 (AURKAIP1), transcript variant 1, mRNA.	110					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding			kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCGGCCCCTTCCCCTATCTGG	0.627000														35			83		9.54843e-35	9.73152e-35	1	1	0
PROS1	5627	broad.mit.edu	37	3	93646166	93646166	+	Silent	SNP	A	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:93646166A>G	uc003drb.4	-	1	503	c.162T>C	c.(160-162)ctT>ctC	p.L54L	PROS1_uc010hoo.3_5'UTR|PROS1_uc003dqz.4_5'UTR	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	54	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	ATTCTCTTTCAAGATTACCCT	0.408000														20			12		0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95829962	95829962	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr13:95829962G>A	uc001vmd.4	-	13	1846	c.1727_splice	c.e13+1	p.L576_splice	ABCC4_uc010afk.3_Splice_Site_p.L576_splice|ABCC4_uc001vme.2_Splice_Site_p.L576_splice|ABCC4_uc010tih.1_Splice_Site_p.L501_splice|ABCC4_uc001vmf.2_Splice_Site_p.L533_splice|ABCC4_uc010afl.1_Splice_Site_p.L533_splice|ABCC4_uc010afm.1_Splice_Site_p.L589_splice	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	576	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CACACTCACAGTTCGAACAAG	0.448000														18			5		0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70066197	70066197	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:70066197C>T	uc003heh.3	-	5	1560	c.1551G>A	c.(1549-1551)tgG>tgA	p.W517*	AK124272_uc003hei.1_Non-coding_Transcript	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	517					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TAGCAAACTTCCAGAAACAAA	0.403000														42			28		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137376	40137376	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:40137376C>T	uc021qgf.1	-	0	467	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	LRRC4C_uc001mxc.1_Missense_Mutation_p.R152Q|LRRC4C_uc001mxd.1_Missense_Mutation_p.R152Q|LRRC4C_uc001mxa.1_Missense_Mutation_p.R156Q|LRRC4C_uc001mxb.1_Missense_Mutation_p.R152Q	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	156					regulation of axonogenesis	integral to membrane	protein binding	p.R156Q(4)|p.R156*(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGGGTTGTTTCGCAACCAGAG	0.428000														16			8		0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163075597	163075597	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:163075597C>T	uc002ucd.3	-	7	791	c.583G>A	c.(583-585)Gga>Aga	p.G195R	FAP_uc010zct.2_Missense_Mutation_p.G170R|FAP_uc010fpe.1_Missense_Mutation_p.G162R	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	195					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.G195R(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TCTGGGATTCCATTAAATATT	0.279000														19			16		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676086	11676086	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:11676086G>A	uc021zzo.1	-	1	945	c.693C>T	c.(691-693)ggC>ggT	p.G231G	THSD7A_uc021zzn.1_Silent_p.G231G	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	231	TSP type-1 2.					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)		GGTTTGGACAGCCAGAGCCTC	0.637000										HNSCC(18;0.044)				17			17		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42059304	42059304	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:42059304C>T	uc010ucy.2	+	23	9205	c.9024C>T	c.(9022-9024)ctC>ctT	p.L3008L	MGA_uc010ucz.2_Silent_p.L2799L	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2969						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTCAGAGTCTCAAGGTGATGC	0.488000														45			12		0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672725	141672725	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:141672725G>A	uc003vwx.1	-	0	849	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	255					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					ATATCACAAAGAAGCAGAAAA	0.493000														22			27		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75893175	75893175	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:75893175C>T	uc021zbv.1	-	8	1517	c.1482G>A	c.(1480-1482)ttG>ttA	p.L494L	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Silent_p.L494L|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_Silent_p.L152L	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	494	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGAATTTTTTCAAAGTGAACT	0.368000														18			15		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342430	40342430	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:40342430G>A	uc002rrx.3	-	9	2909	c.2885C>T	c.(2884-2886)tCc>tTc	p.S962F	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.S957F|SLC8A1_uc002rsb.2_Missense_Mutation_p.S954F|SLC8A1_uc002rrz.3_Missense_Mutation_p.S949F|SLC8A1_uc002rsa.3_Missense_Mutation_p.S926F|SLC8A1_uc002rsd.4_Missense_Mutation_p.S926F	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	962					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTCCAGGGAGGAGAAGAAAAT	0.428000														19			30		0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55509519	55509519	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:55509519C>T	uc001cyf.2	+	1	573	c.211C>T	c.(211-213)Ccg>Tcg	p.P71S	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_Intron	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	71					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GGGCCAGGATCCGTGGAGGTT	0.572000														8			36		0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92265383	92265383	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr14:92265383G>A	uc001xzu.4	-	5	778	c.587C>T	c.(586-588)cCc>cTc	p.P196L	TC2N_uc001xzt.4_Missense_Mutation_p.P196L|TC2N_uc010auc.3_Missense_Mutation_p.P196L|TC2N_uc001xzv.4_Missense_Mutation_p.P196L	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	196						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		AGAACTACTGGGTACACTGGA	0.323000														12			6		0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36730754	36730754	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:36730754C>T	uc003omr.1	-	11	862	c.795G>A	c.(793-795)ggG>ggA	p.G265G	CPNE5_uc003oms.1_Silent_p.G244G	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	265	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGGTGAACTCCCCAATGAAGT	0.582000														103			12		0	0	1	0	0
IBSP	3381	broad.mit.edu	37	4	88732565	88732565	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:88732565G>A	uc003hqx.4	+	6	555	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K		NM_004967	NP_004958	P21815	SIAL_HUMAN	Homo sapiens integrin-binding sialoprotein (IBSP), mRNA.	153	Asp/Glu-rich (acidic).|Poly-Glu.				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		TGATgaagaagaagaggagga	0.413000														8			16		0	0	1	0	0
PABPC1P2	728773	broad.mit.edu	37	2	147345953	147345953	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:147345953G>A	uc002twf.4	+	0	1329	c.413G>A	c.(412-414)gGt>gAt	p.G138D						Homo sapiens poly(A) binding protein, cytoplasmic 1 pseudogene 2 (PABPC1P2), non-coding RNA.																		TCTCCATTTGGTATAATCAAT	0.393000														29			8		0	0	1	0	0
STOM	2040	broad.mit.edu	37	9	124111428	124111428	+	Silent	SNP	A	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr9:124111428A>C	uc004blh.3	-	4	575	c.495T>G	c.(493-495)tcT>tcG	p.S165S	STOM_uc004bli.3_Intron|STOM_uc011lyk.2_Silent_p.S114S	NM_004099	NP_004090	P27105	STOM_HUMAN	Homo sapiens stomatin (STOM), transcript variant 1, mRNA.	165					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		CTTCTCTGTCAGAGAGGATCT	0.463000														1			14		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703474	4703474	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:4703474G>A	uc001lzk.2	-	1	712	c.468C>T	c.(466-468)ttC>ttT	p.F156F	OR51E2_uc021qcr.1_Silent_p.F156F	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAGGCAGTGGGAAAAAAAAGA	0.552000														17			10		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230456412	230456412	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:230456412G>A	uc002vpv.3	-	1	616	c.469C>T	c.(469-471)Cct>Tct	p.P157S		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	157					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGAGTAGCAGGAACAGGCTGA	0.552000														27			31		0	0	1	0	0
LRRC61	65999	broad.mit.edu	37	7	150034116	150034116	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:150034116G>A	uc003wgz.4	+	0	166	c.166G>A	c.(166-168)Gag>Aag	p.E56K	LRRC61_uc003wgv.3_Missense_Mutation_p.E56K|LRRC61_uc003wgx.3_Missense_Mutation_p.E56K|LRRC61_uc003wgw.3_Missense_Mutation_p.E56K	NM_023942	NP_076431	Q9BV99	LRC61_HUMAN	Homo sapiens leucine rich repeat containing 61 (LRRC61), transcript variant 2, mRNA.	56										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCTGGGCCTGGAGTGGCTGGA	0.647000														38			57		0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54785292	54785292	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:54785292C>T	uc004dtj.2	-	7	1245	c.1215G>A	c.(1213-1215)acG>acA	p.T405T		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	405	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CACTGGGGGTCGTCACGCCGG	0.602000														26			17		0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43161378	43161378	+	Missense_Mutation	SNP	G	A	A	rs147500393		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr21:43161378G>A	uc002yzn.1	-	7	2023	c.1975C>T	c.(1975-1977)Cgg>Tgg	p.R659W		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	659						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCAGCGCCCCGATGCAGGAGC	0.672000														25			51		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262296	45262296	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:45262296C>T	uc003jok.3	-	7	2425	c.2400G>A	c.(2398-2400)ctG>ctA	p.L800L		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	800						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTCTGGAAATCAGAGTGGACA	0.657000														32			10		0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30856766	30856766	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:30856766C>T	uc003nrv.3	+	1	209	c.167C>T	c.(166-168)tCc>tTc	p.S56F	DDR1_uc010jse.3_Missense_Mutation_p.S56F|DDR1_uc003nrq.3_Missense_Mutation_p.S56F|DDR1_uc003nrr.3_Missense_Mutation_p.S56F|DDR1_uc003nrs.3_Missense_Mutation_p.S56F|DDR1_uc003nrt.3_Missense_Mutation_p.S56F|DDR1_uc011dms.2_Missense_Mutation_p.S74F|DDR1_uc011dmt.2_Missense_Mutation_p.S82F|DDR1_uc003nru.3_Missense_Mutation_p.S56F|DDR1_uc011dmu.1_Missense_Mutation_p.S56F|DDR1_uc003nry.2_Missense_Mutation_p.S56F|DDR1_uc003nrx.2_Missense_Mutation_p.S56F|MIR4640_uc021yue.1_5'Flank|DDR1_uc003nrw.1_5'Flank	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	56	F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TGGTCAGATTCCACTGCCGCC	0.607000														17			16		0	0	1	0	0
LOC100101266	100101266	broad.mit.edu	37	19	24345488	24345488	+	RNA	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:24345488C>T	uc010edb.1	-	0		c.762G>A								Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA.																		ATTCCAAAGGCCATCTGAAGA	0.453000														36			22		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139767407	139767407	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:139767407C>T	uc003yvd.3	-	20	2471	c.2024G>A	c.(2023-2025)gGa>gAa	p.G675E	COL22A1_uc011ljo.2_5'UTR	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	675	Collagen-like 4.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TACCCGAGCTCCTGGAGGACC	0.557000										HNSCC(7;0.00092)				121			25		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021632	132021632	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:132021632G>A	uc002tsn.2	+	14	2656	c.2604G>A	c.(2602-2604)ggG>ggA	p.G868G	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.G468G|POTEE_uc002tsl.2_Silent_p.G450G|POTEE_uc010fmy.1_Silent_p.G332G	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	868	Actin-like.						ATP binding										TCTATGAGGGGAATGCCCTCC	0.617000														63			13		0	0	1	0	0
FANCB	2187	broad.mit.edu	37	X	14883544	14883544	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:14883544C>T	uc004cwg.1	-	2	357	c.89G>A	c.(88-90)gGa>gAa	p.G30E	FANCB_uc004cwh.1_Missense_Mutation_p.G30E	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	30					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TGCAAAATTTCCTTTAGACAA	0.368000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					74			14		0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110682704	110682704	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:110682704G>A	uc011cft.2	-	3	835	c.627C>T	c.(625-627)ttC>ttT	p.F209F	CFI_uc003hzq.3_Silent_p.F6F|CFI_uc003hzr.4_Silent_p.F209F	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	209	SRCR.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	p.F209F(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CCACATCAGCGAAATCCTGGT	0.393000														49			27		0	0	1	0	0
C1orf85	112770	broad.mit.edu	37	1	156263909	156263909	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:156263909A>G	uc001foh.3	-	3	711	c.698T>C	c.(697-699)cTg>cCg	p.L233P	C1orf85_uc001fof.4_5'Flank	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	Homo sapiens chromosome 1 open reading frame 85 (C1orf85), mRNA.	233					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					CAGCCCAAACAGGGAACGGTT	0.632000														62			42		0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96277043	96277043	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr13:96277043C>T	uc001vmk.3	-	7	1803	c.951G>A	c.(949-951)tcG>tcA	p.S317S	DZIP1_uc001vml.3_Silent_p.S317S	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	317					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			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)			CTGAATTCTTCGAAGTTAATT	0.348000														9			5		0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51504750	51504750	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:51504750C>G	uc001zyz.4	-	9	1281	c.1030G>C	c.(1030-1032)Gac>Cac	p.D344H	CYP19A1_uc001zza.4_Missense_Mutation_p.D344H|CYP19A1_uc001zzb.2_Missense_Mutation_p.D344H	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	344					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	ATCTTTATGTCTCTCTCACCT	0.373000														13			22		0	0	1	0	0
TPSAB1	7177	broad.mit.edu	37	16	1291208	1291208	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:1291208G>A	uc002ckz.3	+	2	168	c.116G>A	c.(115-117)aGg>aAg	p.R39K	TPSAB1_uc010uux.2_5'UTR	NM_003294	NP_003285	P20231	TRYB2_HUMAN	Homo sapiens tryptase alpha/beta 1 (TPSAB1), mRNA.	39	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				GAGGCCCCCAGGAGCAAGTGG	0.701000														53			18		0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35852844	35852844	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:35852844C>A	uc001byt.3	+	11	2157	c.2077C>A	c.(2077-2079)Ctt>Att	p.L693I	ZMYM4_uc009vuu.3_Missense_Mutation_p.L661I|ZMYM4_uc001byu.3_Missense_Mutation_p.L369I|ZMYM4_uc009vuv.3_Missense_Mutation_p.L432I	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	693					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGTAACCGTCTTTTTGCCAC	0.413000														9			20		7.45023e-12	7.54247e-12	1	1	0
VN1R5	317705	broad.mit.edu	37	1	247419532	247419532	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:247419532C>T	uc010pyu.2	+	1	156	c.156C>T	c.(154-156)gcC>gcT	p.A52A		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	53					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			ATCCACAAGCCAGCTTTGGAA	0.358000														74			35		0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154625664	154625664	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:154625664C>T	uc003inq.3	+	2	1824	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	TLR2_uc003inr.3_Silent_p.F535F|TLR2_uc003ins.3_Silent_p.F535F|TLR2_uc021xtl.1_Silent_p.F535F	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	535					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				GCAATAACTTCATTTGCTCCT	0.433000														28			16		0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151124224	151124224	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:151124224G>A	uc004ffi.3	-	6	947	c.893C>T	c.(892-894)tCc>tTc	p.S298F	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	298					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GATCCAAAAGGAAACCCAGGA	0.512000														64			51		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103121876	103121876	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:103121876A>T	uc002tbz.4	+	3	1601	c.1144A>T	c.(1144-1146)Aac>Tac	p.N382Y		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	382					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCACGAGTGGAACTGGGCCTT	0.537000														36			32		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139856381	139856381	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:139856381G>A	uc003yvd.3	-	3	1126	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	227					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCTTCTACACGAACGCTAGGA	0.448000										HNSCC(7;0.00092)				76			51		0	0	1	0	0
NDUFAF1	51103	broad.mit.edu	37	15	41679741	41679741	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:41679741G>A	uc001znx.3	-	4	1283	c.885C>T	c.(883-885)ttC>ttT	p.F295F	NDUFAF1_uc010bcf.3_Non-coding_Transcript	NM_016013	NP_057097	Q9Y375	CIA30_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1 (NDUFAF1), transcript variant 1, mRNA.	295					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		CTATCTCCAGGAAGAATGGAC	0.348000														25			23		0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130319381	130319381	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:130319381C>T	uc010scd.2	+	0	513	c.513C>T	c.(511-513)acC>acT	p.T171T		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	171					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)		GAGACCCCACCTCTCGCTGCG	0.746000														4			6		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151770083	151770083	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:151770083C>T	uc010ipj.3	-	25	4470	c.4226G>A	c.(4225-4227)aGg>aAg	p.R1409K	LRBA_uc003ilt.4_Missense_Mutation_p.R68K|LRBA_uc003ilu.4_Missense_Mutation_p.R1409K	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1409						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GCTAATTAGCCTCTGCAAAAA	0.358000														61			54		0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099959	50099959	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:50099959C>G	uc002poo.4	+	3	2367	c.2367C>G	c.(2365-2367)gaC>gaG	p.D789E		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	481							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGGGCCCTGACCTCCCACTGG	0.711000														13			14		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121358839	121358839	+	Silent	SNP	C	T	T	rs144880203		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:121358839C>T	uc001pxx.3	+	3	756	c.627C>T	c.(625-627)ctC>ctT	p.L209L		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	209					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.L209L(2)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAGCTGATCTCCTCCTACACA	0.522000														58			30		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75840598	75840598	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:75840598C>T	uc021zbv.1	-	34	6072	c.6037G>A	c.(6037-6039)Gga>Aga	p.G2013R	COL12A1_uc021zbw.1_Missense_Mutation_p.G849R|COL12A1_uc003phs.3_Missense_Mutation_p.G2013R|COL12A1_uc003pht.3_Missense_Mutation_p.G849R	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2013	Fibronectin type-III 15.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTGGGATTTCCCTCTCCATCC	0.542000														14			14		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138583857	138583857	+	Missense_Mutation	SNP	G	A	A	rs149573553	by1000genomes	TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:138583857G>A	uc003qhu.3	+	11	1408	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	413			E -> D (in dbSNP:rs9376338).		regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.R412Q(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGGCATGACCGAAGCATGCAT	0.473000														30			14		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2876145	2876145	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:2876145G>A	uc022aqr.1	-	51	8273	c.7883C>T	c.(7882-7884)cCc>cTc	p.P2628L	CSMD1_uc011kwj.2_Missense_Mutation_p.P1958L|CSMD1_uc010lrg.3_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2629	Sushi 17.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCCATTTGGGGGAAAGGAAAG	0.433000														52			20		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50745703	50745703	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:50745703A>T	uc002egm.1	+	3	1986	c.1881A>T	c.(1879-1881)agA>agT	p.R627S	NOD2_uc021tia.1_Missense_Mutation_p.R459S|NOD2_uc010cbk.1_Missense_Mutation_p.R600S|NOD2_uc002egl.1_Missense_Mutation_p.R405S|NOD2_uc010cbl.1_Missense_Mutation_p.R405S|NOD2_uc010cbm.1_Missense_Mutation_p.R405S|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	627					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTTTGCTCAGACACCTCTTCA	0.587000														32			18		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124283832	124283832	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:124283832G>A	uc001uft.4	+	12	1874	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K	DNAH10_uc010tav.1_Missense_Mutation_p.E159K|DNAH10_uc010taw.1_Missense_Mutation_p.E102K	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	617	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GACAATGAAGGAGTATGAAGA	0.443000														4			14		0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41318390	41318390	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr22:41318390A>G	uc003azh.3	+	7	1210	c.1109A>G	c.(1108-1110)gAt>gGt	p.D370G	XPNPEP3_uc003azi.3_Missense_Mutation_p.D291G|XPNPEP3_uc011aoy.1_Non-coding_Transcript	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 3, putative (XPNPEP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	370					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						ATCCAAAGAGATTGTTTGGCC	0.473000														87			111		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28762045	28762045	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:28762045G>A	uc002rmb.2	+	11	742	c.698_splice	c.e11+1	p.S233_splice	PLB1_uc010ezj.2_Splice_Site_p.S244_splice	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	233	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ACTTGGCTCAGGTAAAAGGGG	0.562000														13			18		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046784	73046784	+	RNA	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:73046784C>T	uc004ebn.2	+	0		c.34745C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		CTCAGGCCTTCGGTCCAATTC	0.483000														34			38		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43770786	43770786	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:43770786G>A	uc001ciu.3	+	1	500	c.323G>A	c.(322-324)gGt>gAt	p.G108D	TIE1_uc010okd.2_Missense_Mutation_p.G108D|TIE1_uc010oke.2_Missense_Mutation_p.G63D|TIE1_uc009vwq.3_Missense_Mutation_p.G108D|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.2_5'Flank|TIE1_uc010oka.2_Missense_Mutation_p.G108D|TIE1_uc010okb.2_Missense_Mutation_p.G108D|TIE1_uc010okc.2_Missense_Mutation_p.G108D	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	108					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCGTGGGCGGTGCTGGGGCG	0.711000														12			26		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94643191	94643191	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:94643191C>T	uc001dqj.4	-	21	3251	c.2882G>A	c.(2881-2883)gGa>gAa	p.G961E	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.G527E	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	961					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATCACATTTTCCTAACGCATT	0.368000														42			17		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106866548	106866548	+	RNA	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr14:106866548G>A	uc021ser.1	-	432		c.13672C>T								Parts of antibodies, mostly variable regions.																		ACCACTAATGGATGAGACCCA	0.527000														99			65		0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77301985	77301985	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:77301985T>A	uc004ecx.4	+	22	4581	c.4421T>A	c.(4420-4422)cTa>cAa	p.L1474Q		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	1474					ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AAACGCTCCCTAAACAGTGTT	0.448000														166			47		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2966418	2966418	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:2966418C>T	uc003smv.3	-	13	2096	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	588					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGTCTTCTTCGACTGTGCTG	0.567000			Mis		DLBCL									28			11		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6173030	6173030	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:6173030G>A	uc001amb.2	-	33	5052	c.4941C>T	c.(4939-4941)atC>atT	p.I1647I	CHD5_uc001alz.2_Silent_p.I504I|CHD5_uc001ama.2_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1647					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCTTGTCCAGGATCTTCTCCT	0.577000														52			8		0	0	1	0	0
ALKBH7	84266	broad.mit.edu	37	19	6374516	6374516	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:6374516C>T	uc002meo.2	+	2	807	c.419C>T	c.(418-420)cCc>cTc	p.P140L		NM_032306	NP_115682	Q9BT30	ALKB7_HUMAN	Homo sapiens alkB, alkylation repair homolog 7 (E. coli) (ALKBH7), mRNA.	140						extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.P140R(2)		breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CTCCTGTCTCCCAGCGTTATG	0.652000														28			32		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156816326	156816326	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:156816326G>A	uc010pht.2	-	7	2094	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	599					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.R599*(3)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCAGCGTTCGGAGGTAGACG	0.577000														18			15		0	0	1	0	0
SULT4A1	25830	broad.mit.edu	37	22	44258218	44258218	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr22:44258218G>A	uc003bee.1	-	0	161	c.45C>T	c.(43-45)ttC>ttT	p.F15F	SULT4A1_uc003bef.1_Non-coding_Transcript|SULT4A1_uc011aqb.1_Silent_p.F15F	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	Homo sapiens sulfotransferase family 4A, member 1 (SULT4A1), mRNA.	15					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		ACTTGCTCTCGAACTCCCCCG	0.736000														41			48		0	0	1	0	0
IRAK1	3654	broad.mit.edu	37	X	153284189	153284189	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:153284189G>A	uc004fjs.1	-	4	669	c.590C>T	c.(589-591)cCg>cTg	p.P197L	IRAK1_uc004fjr.1_Missense_Mutation_p.P197L|IRAK1_uc004fjt.1_Missense_Mutation_p.P197L|IRAK1_uc004fju.2_Missense_Mutation_p.P223L	NM_001569	NP_001560	P51617	IRAK1_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 1 (IRAK1), transcript variant 1, mRNA.	197	ProST region.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|lipopolysaccharide-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	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)					CCAGCAAAACGGAAAGGGGCG	0.642000														28			31		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9984935	9984935	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:9984935C>T	uc010uym.2	-	4	1340	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	GRIN2A_uc002czo.4_Missense_Mutation_p.D344N|GRIN2A_uc010uyn.2_Missense_Mutation_p.D187N|GRIN2A_uc002czr.4_Missense_Mutation_p.D344N	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	344					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.W343*(2)		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)	TCTTTGCCATCCCATGTAACA	0.438000														29			28		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626906	108626906	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:108626906C>T	uc002tdv.3	+	8	1608	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	SLC5A7_uc010ywm.2_Silent_p.F197F|SLC5A7_uc010fjj.3_Silent_p.F444F|SLC5A7_uc010ywn.2_Silent_p.F331F	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	444					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTGGCCTCTTCCTGAGAATAA	0.443000														34			32		0	0	1	0	0
WDR13	64743	broad.mit.edu	37	X	48463292	48463292	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:48463292G>A	uc004dkj.2	+	8	1835	c.1330G>A	c.(1330-1332)Gct>Act	p.A444T	WDR13_uc004dkk.2_Missense_Mutation_p.A352T|WDR13_uc004dkl.4_Missense_Mutation_p.A352T	NM_017883	NP_001159898	Q9H1Z4	WDR13_HUMAN	Homo sapiens WD repeat domain 13 (WDR13), transcript variant 1, mRNA.	444						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						GGCGGCCAAGGCTGCTGTCAA	0.632000														15			21		0	0	1	0	0
C2orf48	348738	broad.mit.edu	37	2	10282434	10282434	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:10282434C>T	uc021vds.1	+	1	154	c.125C>T	c.(124-126)cCc>cTc	p.P42L		NM_182626	NP_872432	Q96LS8	CB048_HUMAN	Homo sapiens chromosome 2 open reading frame 48 (C2orf48), mRNA.	42								p.P42P(1)		endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		aaagggaatcccctgcttctg	0.557000														46			83		0	0	1	0	0
STX11	8676	broad.mit.edu	37	6	144508265	144508265	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:144508265C>T	uc003qks.4	+	1	693	c.501C>T	c.(499-501)atC>atT	p.I167I	STX11_uc021zgk.1_Silent_p.I167I	NM_003764	NP_003755	O75558	STX11_HUMAN	Homo sapiens syntaxin 11 (STX11), mRNA.	167					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		AGCTGGAGATCATGGGCAAGG	0.612000									Familial Hemophagocytic Lymphohistiocytosis					26			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059273	9059273	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:9059273G>A	uc002mkp.3	-	2	28377	c.28173C>T	c.(28171-28173)tcC>tcT	p.S9391S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9393	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						TTCCTGGCCAGGAGGCTGTGC	0.537000														37			39		0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40312904	40312904	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:40312904G>T	uc021olz.1	-	7	1008	c.994C>A	c.(994-996)Cgt>Agt	p.R332S	TRIT1_uc001ced.4_Missense_Mutation_p.R28S|TRIT1_uc001cee.4_Non-coding_Transcript|TRIT1_uc001cef.4_Non-coding_Transcript|TRIT1_uc001ceg.4_Missense_Mutation_p.R86S|TRIT1_uc001ceh.4_Missense_Mutation_p.R86S|TRIT1_uc009vvv.3_Intron|TRIT1_uc001cei.4_Missense_Mutation_p.R86S|TRIT1_uc001cec.4_Non-coding_Transcript|TRIT1_uc001ceq.3_Missense_Mutation_p.R28S|TRIT1_uc001cek.3_Missense_Mutation_p.R28S|TRIT1_uc009vvx.3_Intron|TRIT1_uc001cel.3_Intron|TRIT1_uc001cem.3_Missense_Mutation_p.R250S|TRIT1_uc001cen.3_Missense_Mutation_p.R86S|TRIT1_uc001ceo.3_Missense_Mutation_p.R86S|TRIT1_uc001cep.3_Missense_Mutation_p.R86S	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	Homo sapiens tRNA isopentenyltransferase 1 (TRIT1), mRNA.	332					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTCAAAAAACGGTTTTTAACC	0.353000														20			22		3.6726e-16	3.72162e-16	1	1	0
SCN2A	6326	broad.mit.edu	37	2	166166906	166166906	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:166166906C>T	uc002udc.3	+	6	1061	c.771C>T	c.(769-771)ttC>ttT	p.F257F	SCN2A_uc002udd.3_Silent_p.F257F|SCN2A_uc002ude.3_Silent_p.F257F	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	257					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGACTGTGTTCTGTCTAAGCG	0.428000														65			69		0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66204834	66204834	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:66204834G>A	uc011dxu.1	-	3	1008	c.470C>T	c.(469-471)tCa>tTa	p.S157L	EYS_uc003peq.3_Missense_Mutation_p.S157L|EYS_uc003per.1_Missense_Mutation_p.S157L|EYS_uc021zbn.1_Missense_Mutation_p.S157L|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	157					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGGACAAGGTGATGGACCACT	0.418000														12			11		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5242240	5242241	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:5242240_5242241CC>TT	uc003jdl.3	+	16	2736_2737	c.2598_2599CC>TT	c.(2596-2601)ccccct>ccTTct	p.P867S	ADAMTS16_uc003jdk.1_Missense_Mutation_p.P867S	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	867	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGAAGCAGCCCCCTGCCCAGCC	0.594000														41			38		0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38128990	38128990	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:38128990G>A	uc004deb.3	-	18	2505	c.2337C>T	c.(2335-2337)atC>atT	p.I779I	RPGR_uc004dea.3_Non-coding_Transcript|RPGR_uc004dec.3_Non-coding_Transcript	NM_000328	NP_000319	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant A, mRNA.	777	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TTTTTAAAATGATCTGGTCTC	0.368000														38			33		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024295	76024295	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:76024295C>T	uc010kbe.3	-	5	1792	c.1262G>A	c.(1261-1263)aGt>aAt	p.S421N	FILIP1_uc003phy.1_Missense_Mutation_p.S418N|FILIP1_uc003phz.3_Missense_Mutation_p.S319N|FILIP1_uc003pia.3_Missense_Mutation_p.S418N|FILIP1_uc003pib.1_Missense_Mutation_p.S170N	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	418				L -> F (in Ref. 2; BAC04928).						breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAGCTCCTTACTATGGTGTTC	0.423000														53			33		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142458485	142458485	+	Silent	SNP	C	T	T	rs145133152	by1000genomes	TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:142458485C>T	uc003wak.2	+	1	137	c.120C>T	c.(118-120)tcC>tcT	p.S40S	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Missense_Mutation_p.P16S|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	40	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ACCAGGTGTCCCTGAATTCTG	0.557000														114			5		0	0	1	0	0
DHDH	27294	broad.mit.edu	37	19	49442759	49442759	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:49442759C>T	uc002ple.1	+	3	460	c.420C>T	c.(418-420)gcC>gcT	p.A140A		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	Homo sapiens dihydrodiol dehydrogenase (dimeric) (DHDH), mRNA.	140					carbohydrate metabolic process		D-xylose 1-dehydrogenase (NADP+) activity|NAD(P)+ transhydrogenase activity|binding|electron carrier activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		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;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		CTGTTTTGGCCCAGGGAACTC	0.607000														50			14		0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121822572	121822572	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:121822572G>A	uc003eet.3	+	2	406	c.278G>A	c.(277-279)tGg>tAg	p.W93*	CD86_uc011bjo.2_Nonsense_Mutation_p.W11*|CD86_uc011bjp.2_Intron|CD86_uc003eeu.3_Nonsense_Mutation_p.W87*|CD86_uc021xcz.1_Nonsense_Mutation_p.W87*	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	93	Ig-like V-type.				T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TCGGACAGTTGGACCCTGAGA	0.428000														46			25		0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149772279	149772279	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:149772279C>T	uc003lry.3	+	21	3634	c.3526C>T	c.(3526-3528)Ccc>Tcc	p.P1176S	TCOF1_uc003lrz.3_Missense_Mutation_p.P1138S|TCOF1_uc011dch.2_Missense_Mutation_p.P1139S|TCOF1_uc003lrx.3_Missense_Mutation_p.P1100S|TCOF1_uc003lsa.3_Missense_Mutation_p.P1099S	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	1176			P -> R (in dbSNP:rs1136103).		skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTCCCACCCCCTCCAGGAC	0.637000														4			15		0	0	1	0	0
STAT5B	6777	broad.mit.edu	37	17	40354389	40354389	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:40354389G>A	uc002hzh.3	-	17	2375	c.2206C>T	c.(2206-2208)Ccc>Tcc	p.P736S		NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	736					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGAGCCTGGGGACACACAGCT	0.617000														16			24		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499794	66499795	+	Missense_Mutation	DNP	CG	TA	TA			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr9:66499794_66499795CG>TA	uc004aee.1	+	0	604_605	c.604_605CG>TA	c.(604-606)cgc>TAc	p.R202Y	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		GTGCAAGTCGCGCAAGGAGCAG	0.589000														15			3		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584982	179584982	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:179584982C>T	uc021vsy.1	-	77	19880	c.19655G>A	c.(19654-19656)cGa>cAa	p.R6552Q	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3213Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7479	Ig-like 47.						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)			TTTCACGAATCGTGGAGGTTC	0.453000														18			13		0	0	1	0	0
CCL2	6347	broad.mit.edu	37	17	32583799	32583799	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:32583799G>A	uc002hhy.3	+	2	326	c.253G>A	c.(253-255)Gat>Aat	p.D85N		NM_002982	NP_002973	P13500	CCL2_HUMAN	Homo sapiens chemokine (C-C motif) ligand 2 (CCL2), mRNA.	85					G-protein signaling, coupled to cyclic nucleotide second messenger|JAK-STAT cascade|angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|helper T cell extravasation|humoral immune response|inflammatory response|macrophage chemotaxis|monocyte chemotaxis|positive regulation of T cell activation|positive regulation of nitric-oxide synthase biosynthetic process|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	GTGGGTTCAGGATTCCATGGA	0.498000														22			9		0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203015104	203015104	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:203015104C>T	uc009xaj.3	+	11	1435	c.1435C>T	c.(1435-1437)Ctg>Ttg	p.L479L	PPFIA4_uc010pqf.2_Silent_p.L39L			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	260	SAM 2.				cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CAAGGAGTCCCTGCACCGCCA	0.582000														93			67		0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63156455	63156455	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:63156455C>T	uc002jfe.3	+	3	513	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	RGS9_uc021ubw.1_Nonsense_Mutation_p.Q104*|RGS9_uc010dem.3_Nonsense_Mutation_p.Q104*|RGS9_uc002jfd.3_Nonsense_Mutation_p.Q104*	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	104	DEP.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CTACAGATTTCAGGTGAGTCT	0.463000														30			18		0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099988	50099989	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:50099988_50099989CC>TT	uc002poo.4	+	3	2396_2397	c.2396_2397CC>TT	c.(2395-2397)ccc>cTT	p.P799L		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	490							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCGCCTCCCCCCCAGCTGCTCC	0.723000														11			8		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158261127	158261127	+	Missense_Mutation	SNP	C	T	T	rs145638725		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:158261127C>T	uc001fru.3	+	1	557	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	89					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.R89C(2)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTTGTTATTTCGTTTCTACCT	0.398000														28			19		0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38950723	38950723	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:38950723G>A	uc003jlo.2	-	30	3249	c.3227C>T	c.(3226-3228)tCt>tTt	p.S1076F	RICTOR_uc003jlp.2_Missense_Mutation_p.S1076F|RICTOR_uc010ivf.2_Missense_Mutation_p.S791F	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1076					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding	p.R1075Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TATGGGTCCAGATCGGTCATA	0.368000														48			27		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24359010	24359010	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:24359010G>A	uc003xeb.3	+	19	2242	c.2129G>A	c.(2128-2130)gGa>gAa	p.G710E	ADAM7_uc003xec.3_Missense_Mutation_p.G482E	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	710					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G710E(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GAAACCCTGGGAGTGGAGAAC	0.378000														30			9		0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52841668	52841668	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:52841668C>T	uc001sak.3	-	6	1366	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	440	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.Q439K(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CGGGCCAGGTCCTGCTTGGCC	0.622000														58			54		0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51487951	51487951	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:51487951G>A	uc004dpl.3	+	0	1471	c.1229G>A	c.(1228-1230)gGa>gAa	p.G410E		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	410					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TGGTACACTGGATTACCATTT	0.413000														32			25		0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77436740	77436740	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:77436740G>A	uc001oyn.3	-	4	703	c.583C>T	c.(583-585)Cga>Tga	p.R195*		NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	195					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AACTCGTTTCGATTTCTAAAC	0.338000														8			6		0	0	1	0	0
MIP	4284	broad.mit.edu	37	12	56848375	56848375	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:56848375G>A	uc001slh.3	-	0	61	c.23C>T	c.(22-24)tCc>tTc	p.S8F		NM_012064	NP_036196	P30301	MIP_HUMAN	Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA.	8					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						CCTCCAAAAGGAGGCTGATCG	0.587000														40			31		0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062807	194062807	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:194062807G>A	uc003fts.3	-	1	715	c.625C>T	c.(625-627)Ccc>Tcc	p.P209S	CPN2_uc021xix.1_Missense_Mutation_p.P209S	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	209					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		ACACCCTGGGGGAGACCAGAG	0.627000														21			7		0	0	1	0	0
PRR3	80742	broad.mit.edu	37	6	30529767	30529767	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:30529767C>T	uc003nqi.2	+	2	962	c.326C>T	c.(325-327)cCt>cTt	p.P109L	PRR3_uc003nqj.2_Missense_Mutation_p.P88L	NM_025263	NP_079539	P79522	PRR3_HUMAN	Homo sapiens proline rich 3 (PRR3), transcript variant 1, mRNA.	109	Pro-rich.						nucleic acid binding|zinc ion binding			lung(1)|ovary(1)	2						GCAGAACCTCCTTTTCCGGGG	0.577000														11			35		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47686167	47686167	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:47686167C>T	uc003oyz.1	+	9	2248	c.2248C>T	c.(2248-2250)Cgt>Tgt	p.R750C	GPR115_uc003oza.1_Missense_Mutation_p.R693C|GPR115_uc003ozb.1_Missense_Mutation_p.R693C	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	693					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ATTAATGAATCGTCAAGGATG	0.348000														15			19		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140406746	140406746	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:140406746G>A	uc003eto.2	+	2	1428	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	408						intracellular	zinc ion binding	p.E408K(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAGGCAGAAGGAAATTGAAAA	0.453000														26			9		0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587343	55587343	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:55587343C>T	uc010rin.2	+	0	238	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A79S(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CATCATTGCTCCCAAGATGTT	0.408000														42			38		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143039598	143039598	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:143039598G>A	uc003wcr.1	+	16	2017	c.1930_splice	c.e16+1	p.D644_splice	CLCN1_uc011ktc.1_Splice_Site_p.D256_splice	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	644	CBS 1.				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGACTCAAAAGGTCAGTGGGG	0.512000														19			24		0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54339780	54339780	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr18:54339780C>T	uc002lgk.1	+	1	245	c.34C>T	c.(34-36)Ctt>Ttt	p.L12F	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Missense_Mutation_p.L12F	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	12										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ACCCATTGTTCTTTGGGGTCG	0.408000														39			10		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111025246	111025246	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:111025246G>A	uc004epl.1	-	7	2936	c.2017C>T	c.(2017-2019)Ctt>Ttt	p.L673F	TRPC5_uc004epm.1_Missense_Mutation_p.L673F	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	673					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAGTTACCAAGGTATAGAAAT	0.463000														81			59		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130222754	130222754	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:130222754C>T	uc004evz.3	+	11	1984	c.1639C>T	c.(1639-1641)Cct>Tct	p.P547S	ARHGAP36_uc004ewa.3_Missense_Mutation_p.P535S|ARHGAP36_uc004ewb.3_Missense_Mutation_p.P516S|ARHGAP36_uc004ewc.3_Missense_Mutation_p.P411S	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	547					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTACTTCTTTCCTTAGATGTT	0.527000														27			18		0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201507384	201507384	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:201507384C>T	uc002uvx.3	+	24	2808	c.2707C>T	c.(2707-2709)Ctc>Ttc	p.L903F	AOX1_uc010zhf.2_Missense_Mutation_p.L459F|AOX1_uc010fsu.3_Missense_Mutation_p.L269F	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	903					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTTTCCCAATCTCCGCTGCCG	0.468000														16			20		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16021677	16021677	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:16021677C>T	uc010lsu.3	-	4	832	c.768G>A	c.(766-768)caG>caA	p.Q256Q	MSR1_uc003wwz.3_Silent_p.Q238Q|MSR1_uc003wxa.3_Silent_p.Q238Q|MSR1_uc003wxb.3_Silent_p.Q238Q|MSR1_uc011kxz.2_Silent_p.Q12Q	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	238					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTTTTATTTCCTGTTCCAAAT	0.338000														19			4		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52503971	52503971	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:52503971A>G	uc010bff.3	-	34	4414	c.4252T>C	c.(4252-4254)Tcc>Ccc	p.S1418P	MYO5C_uc010uga.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1418						myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTCATGAGGGACTTCAGCATG	0.517000														45			61		0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108868931	108868931	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:108868931C>T	uc010ywo.2	+	1	283	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	95						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ACTGAAATTTCCCCATAAAGA	0.398000														26			19		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220500082	220500082	+	Silent	SNP	C	T	T	rs140366514		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:220500082C>T	uc002vmo.4	+	12	2126	c.1917C>T	c.(1915-1917)ccC>ccT	p.P639P	SLC4A3_uc002vmp.4_Silent_p.P612P|SLC4A3_uc010fwm.3_Silent_p.P162P|SLC4A3_uc010fwn.1_Silent_p.P121P	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	612					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	p.P639L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTGATCCCCCCGTCCGAGG	0.607000														39			12		0	0	1	0	0
LSM11	134353	broad.mit.edu	37	5	157181871	157181871	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:157181871C>T	uc003lxe.1	+	3	686	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	LSM11_uc003lxf.1_5'Flank	NM_173491	NP_775762	P83369	LSM11_HUMAN	Homo sapiens LSM11, U7 small nuclear RNA associated (LSM11), mRNA.	228					S phase of mitotic cell cycle|histone mRNA 3'-end processing|termination of RNA polymerase II transcription	U7 snRNP|histone pre-mRNA 3'end processing complex|nucleoplasm	U7 snRNA binding|protein binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTATTTGATCGGCTGAAACT	0.363000														3			11		0	0	1	0	0
C20orf132	140699	broad.mit.edu	37	20	35766335	35766335	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr20:35766335G>A	uc010zvu.2	-	13	1618	c.1527C>T	c.(1525-1527)tcC>tcT	p.S509S	C20orf132_uc002xgk.3_Silent_p.S141S|C20orf132_uc002xgm.2_Silent_p.S509S|C20orf132_uc002xgn.2_Silent_p.S474S	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	394										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				GGCTGATTATGGATAACTGGG	0.408000														11			4		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41522698	41522698	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:41522698C>T	uc002opr.1	+	8	1449	c.1442C>T	c.(1441-1443)cCc>cTc	p.P481L	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.P281L	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	481					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GGCAAAATACCCCCAACATAC	0.582000														27			3		0	0	1	0	0
TMEM100	55273	broad.mit.edu	37	17	53798372	53798372	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:53798372C>T	uc002iuj.4	-	1	371	c.60G>A	c.(58-60)acG>acA	p.T20T	TMEM100_uc002iuk.4_Silent_p.T20T|TMEM100_uc021uai.1_Silent_p.T20T	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	Homo sapiens transmembrane protein 100 (TMEM100), transcript variant 2, mRNA.	20						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						TCTTCTCCATCGTCGCTGCCA	0.522000														64			27		0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42828497	42828498	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:42828497_42828498CC>TT	uc002ihf.3	+	13	1937_1938	c.1724_1725CC>TT	c.(1723-1725)acc>aTT	p.T575I	DBF4B_uc010wjc.2_Intron	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	575					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CATCCGTGTACCCTTGCCTTCC	0.559000														77			21		0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52344306	52344306	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:52344306G>A	uc003joy.3	+	5	645	c.502_splice	c.e5+1	p.P168_splice	ITGA2_uc011cqa.2_Splice_Site|ITGA2_uc011cqb.2_Splice_Site|ITGA2_uc011cqc.2_Splice_Site_p.P92_splice|ITGA2_uc011cqd.2_Splice_Site|ITGA2_uc011cqe.2_Splice_Site	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	168					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CTGCAACTCAGCGTAAGTTAT	0.468000														26			27		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41012742	41012742	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:41012742G>A	uc003jmj.4	-	29	3568	c.3078C>T	c.(3076-3078)gcC>gcT	p.A1026A	HEATR7B2_uc003jmi.4_Silent_p.A581A	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1026							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						ATATGCCACAGGCCTTTGTAC	0.453000														32			19		0	0	1	0	0
LOC341056	341056	broad.mit.edu	37	11	122888813	122888813	+	RNA	SNP	G	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:122888813G>T	uc010rzt.2	+	0		c.540G>T								Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA.																		TTCTTTGCAGGAGATGTTTTT	0.398000														12			11		1.61879e-10	1.63572e-10	1	1	0
PCNXL3	399909	broad.mit.edu	37	11	65396095	65396095	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:65396095C>T	uc001oey.2	+	22	3732	c.3732C>T	c.(3730-3732)ttC>ttT	p.F1244F	PCNXL3_uc001oez.2_Silent_p.F131F	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1244						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGCTGCGTTTCGTGCTGACCT	0.602000														19			17		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40852457	40852457	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:40852457G>A	uc003jmg.3	+	2	1098	c.1023G>A	c.(1021-1023)agG>agA	p.R341R		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	341					apoptosis|regulation of apoptosis	intracellular		p.R341S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGACCGCTAGGGATTCAATCC	0.453000														20			7		0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127255464	127255464	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:127255464C>T	uc010lld.1	-	0	317	c.111G>A	c.(109-111)cgG>cgA	p.R37R	PAX4_uc003vmf.2_5'UTR|PAX4_uc003vmg.1_Silent_p.R37R|PAX4_uc003vmh.3_5'UTR	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	45	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R37W(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCTTAAGGATCCGTGAGATGT	0.597000														71			41		0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41069821	41069821	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:41069821C>T	uc004dfb.3	+	32	5708	c.5075C>T	c.(5074-5076)tCa>tTa	p.S1692L	USP9X_uc004dfc.3_Missense_Mutation_p.S1692L	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1692					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTTTTAATTCATTGGTGGAT	0.363000														39			23		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542497	28542497	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:28542497C>T	uc003nlo.3	-	2	2603	c.1985G>A	c.(1984-1986)aGa>aAa	p.R662K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	662					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AGGCAAACTTCTTTGAATCTC	0.443000														109			28		0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39647477	39647477	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr18:39647477G>A	uc002lap.3	+	24	2707	c.2649_splice	c.e24+1	p.Q883_splice	PIK3C3_uc010xcl.2_Splice_Site_p.Q820_splice|PIK3C3_uc002laq.3_Splice_Site_p.Q368_splice	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 3 (PIK3C3), mRNA.	883	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AGTTTGCCCAGGTAAGTTCCC	0.488000										TSP Lung(28;0.18)				17			4		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16026301	16026301	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:16026301C>T	uc010lsu.3	-	3	414	c.350G>A	c.(349-351)gGa>gAa	p.G117E	MSR1_uc003wwz.3_Missense_Mutation_p.G99E|MSR1_uc003wxa.3_Missense_Mutation_p.G99E|MSR1_uc003wxb.3_Missense_Mutation_p.G99E|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	99					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTTCCTTTTCCCGTGAGACT	0.358000														39			48		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101797334	101797334	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr9:101797334G>A	uc004azb.1	+	17	2324	c.2118G>A	c.(2116-2118)ggG>ggA	p.G706G		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	706	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.G706G(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GACCCCCGGGGAAAAAGGGAC	0.617000														6			29		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3886440	3886440	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:3886440G>A	uc003bpt.4	+	1	876	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.E39K	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	39	LRRNT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTGCGTATGTGAAATTCGTCC	0.453000														21			30		0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39723557	39723557	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:39723557C>T	uc002hxe.4	-	6	1906	c.1840G>A	c.(1840-1842)Gga>Aga	p.G614R	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	614	Tail.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				cttcctcctccgtagccgcca	0.532000														25			11		0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44377519	44377519	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:44377519G>A	uc002oxs.4	-	1	838	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	Homo sapiens zinc finger protein 404 (ZNF404), mRNA.	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AGACTTGAACGATGACCAAAA	0.358000														1			7		0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88935351	88935351	+	Missense_Mutation	SNP	G	A	A	rs150736820	byFrequency	TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr14:88935351G>A	uc001xwv.4	-	17	3636	c.3305C>T	c.(3304-3306)cCt>cTt	p.P1102L	PTPN21_uc010twc.2_Missense_Mutation_p.P898L	NM_007039	NP_008970	Q16825	PTN21_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.	1102	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAACAACGGAGGGTTGGGGCT	0.493000														1			19		0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41206337	41206337	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:41206337G>A	uc002oor.2	-	10	1215	c.913C>T	c.(913-915)Ccc>Tcc	p.P305S	ADCK4_uc002oop.1_5'UTR|ADCK4_uc002ooq.2_Missense_Mutation_p.P264S	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	305	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CGGAAGAAGGGGTCATTTGCC	0.632000														8			11		0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102805721	102805721	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:102805721T>A	uc002tbs.3	+	2	370	c.244T>A	c.(244-246)Ttt>Att	p.F82I	IL1RL2_uc002tbt.3_Intron	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	82	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TTGGATTTTGTTTCTCCCCAT	0.373000														19			9		0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144381609	144381609	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:144381609C>A	uc003ijd.3	+	8	2221	c.1862C>A	c.(1861-1863)cCc>cAc	p.P621H	GAB1_uc003ije.3_Missense_Mutation_p.P591H|GAB1_uc011chq.2_Missense_Mutation_p.P488H	NM_207123	NP_997006	Q13480	GAB1_HUMAN	Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 1, mRNA.	591					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					AATTATGTTCCCATGAACCCA	0.448000														56			50		1.86277e-20	1.89304e-20	1	1	0
TPK1	27010	broad.mit.edu	37	7	144245694	144245694	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:144245694C>T	uc003weq.3	-	8	605	c.502_splice	c.e8-1	p.G168_splice	TPK1_uc003weo.3_Splice_Site_p.G114_splice|TPK1_uc003wep.3_Splice_Site|TPK1_uc003wer.3_Splice_Site_p.G119_splice|TPK1_uc003wes.3_Splice_Site	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant 1, mRNA.	168					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	CCTGTGCTTTCCCTGAAGGAG	0.493000														37			10		0	0	1	0	0
WDR44	54521	broad.mit.edu	37	X	117531026	117531026	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:117531026C>T	uc004eqn.3	+	6	1578	c.1147C>T	c.(1147-1149)Cct>Tct	p.P383S	WDR44_uc004eqo.3_Missense_Mutation_p.P383S|WDR44_uc011mtr.2_Missense_Mutation_p.P358S|WDR44_uc010nqi.3_Missense_Mutation_p.P93S	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA.	383						Golgi apparatus|cytosol|endosome membrane|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AGGCATTAATCCTCTCACTCT	0.358000														32			21		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38690731	38690731	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:38690731C>T	uc021yzh.1	+	1	255	c.146C>T	c.(145-147)cCt>cTt	p.P49L	DNAH8_uc003ooe.2_5'UTR	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						GGTTTCTCTCCTTCCGCAGAA	0.552000														34			8		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40376709	40376709	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:40376709T>G	uc002omp.4	-	23	11721	c.11713A>C	c.(11713-11715)Agc>Cgc	p.S3905R		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	3905						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGATGTTGCTGCAGAGAATG	0.587000														135			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057898	9057898	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:9057898C>T	uc002mkp.3	-	2	29752	c.29548G>A	c.(29548-29550)Gac>Aac	p.D9850N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9852	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						GTGGTATCGTCCACAGCGGAG	0.473000														51			13		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20544117	20544117	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:20544117G>A	uc003gpr.1	+	21	2348	c.2144_splice	c.e21-1	p.G715_splice	SLIT2_uc003gps.1_Splice_Site_p.G707_splice	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	715					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGCGATTTAGGAAATGATGAC	0.408000														96			83		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372221	126372221	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:126372221G>A	uc003ifj.4	+	8	10050	c.10050G>A	c.(10048-10050)aaG>aaA	p.K3350K	FAT4_uc011cgp.2_Silent_p.K1648K|FAT4_uc003ifi.1_Silent_p.K828K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3350	Cadherin 32.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGATCAATAAGAAGACTGGAC	0.413000														32			39		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754683	76754683	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr18:76754683G>A	uc002lmt.3	+	1	2692	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	SALL3_uc010dra.3_Missense_Mutation_p.E505K	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	898	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGCCCTGTCCGAGTCCTCGTC	0.726000														19			14		0	0	1	0	0
COX10	1352	broad.mit.edu	37	17	14063198	14063198	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:14063198T>C	uc002gof.4	+	4	833	c.629T>C	c.(628-630)tTt>tCt	p.F210S	COX10_uc010vvs.2_5'UTR|COX10_uc010vvt.2_Missense_Mutation_p.F18S	NM_001303	NP_001294	Q12887	COX10_HUMAN	Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA.	210					heme O biosynthetic process|heme a biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TTACAGTTTTTTGAGGTGCCA	0.333000														10			11		0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127239494	127239494	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:127239494C>T	uc003vmd.2	+	4	1399	c.1180C>T	c.(1180-1182)Cgt>Tgt	p.R394C	FSCN3_uc011koh.1_Missense_Mutation_p.R260C|FSCN3_uc010llc.2_Missense_Mutation_p.R394C	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	394						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ATTGCGAGGTCGTTATGGCTA	0.507000														59			37		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060342	111060342	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:111060342G>A	uc001dzt.1	-	0	1456	c.1068C>T	c.(1066-1068)cgC>cgT	p.R356R		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	356						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.S355S(1)|p.R356C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CCTTGGAGTGGCGCGAGAGCT	0.567000														43			67		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153594725	153594725	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:153594725G>A	uc004fkk.2	-	7	1428	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P	FLNA_uc010nuu.1_Silent_p.P393P	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	393					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTTGCCACTGGGCTCCAGGC	0.612000														46			25		0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149419603	149419603	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:149419603G>A	uc003wfz.3	+	5	956	c.557G>A	c.(556-558)aGg>aAg	p.R186K	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_5'Flank	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	186										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCAGCAGGAGGAAGAGCCAC	0.622000														11			9		0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68897194	68897194	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:68897194G>A	uc001dei.1	-	10	1257	c.1203C>T	c.(1201-1203)atC>atT	p.I401I		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	401					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GCTCCAGCCAGATAGTCTCGT	0.458000														8			22		0	0	1	0	0
PAK4	10298	broad.mit.edu	37	19	39660384	39660384	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:39660384C>T	uc002okj.1	+	3	652	c.191C>T	c.(190-192)cCc>cTc	p.P64L	PAK4_uc002okl.1_Missense_Mutation_p.P64L|PAK4_uc002okn.1_Missense_Mutation_p.P64L|PAK4_uc002okm.1_Missense_Mutation_p.P64L|PAK4_uc002oko.1_Missense_Mutation_p.P64L|PAK4_uc002okp.1_Missense_Mutation_p.P64L	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	64	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			TCCATCCAGCCCGGGGCCCCC	0.711000														18			16		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72147103	72147103	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr13:72147103G>A	uc021rkj.1	-	3	1597	c.1174C>T	c.(1174-1176)Cct>Tct	p.P392S	DACH1_uc021rkk.1_Intron|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	442					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)		AGGCTGACAGGAATTAGAGGG	0.438000														17			5		0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121518183	121518183	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:121518183G>A	uc010hre.1	-	7	841	c.626C>T	c.(625-627)tCa>tTa	p.S209L	IQCB1_uc010hrf.1_Non-coding_Transcript|IQCB1_uc003eek.2_Intron	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	Homo sapiens IQ motif containing B1 (IQCB1), transcript variant 1, mRNA.	209					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		ATCTAAAATTGAATACAGGGC	0.323000														6			7		0	0	1	0	0
SLC16A1	6566	broad.mit.edu	37	1	113460450	113460450	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:113460450G>A	uc001ecx.3	-	3	1410	c.578C>T	c.(577-579)gCc>gTc	p.A193V	SLC16A1_uc001ecy.3_Missense_Mutation_p.A193V|SLC16A1_uc001ecz.3_Missense_Mutation_p.A193V	NM_001166496	NP_003042	P53985	MOT1_HUMAN	Homo sapiens solute carrier family 16, member 1 (monocarboxylic acid transporter 1) (SLC16A1), transcript variant 2, mRNA.	193					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	TCGCATGAGGGCTCCAGCAAC	0.488000														47			21		0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4721600	4721600	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:4721600C>T	uc002fzc.3	+	18	2055	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F	PLD2_uc010vsj.2_3'UTR|PLD2_uc002fzd.3_Silent_p.F643F	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	643	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AGAATCAGTTCTTCATTAGCT	0.572000														30			16		0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109383173	109383173	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:109383173T>G	uc002tem.4	+	19	6304	c.6178T>G	c.(6178-6180)Tta>Gta	p.L2060V		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2060	RanBD1 2.				carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTGGGGAACTTAAAAATTCT	0.383000														273			81		0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31487802	31487802	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr22:31487802C>T	uc003ajl.2	+	10	1842	c.1601C>T	c.(1600-1602)cCc>cTc	p.P534L	SMTN_uc003ajk.2_Missense_Mutation_p.P534L|SMTN_uc003ajm.2_Missense_Mutation_p.P534L|SMTN_uc011ale.2_Missense_Mutation_p.P588L|SMTN_uc011alf.2_Missense_Mutation_p.P590L|SMTN_uc003ajn.2_Missense_Mutation_p.P526L|SMTN_uc011alg.2_Intron|SMTN_uc003ajo.2_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.2_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	534					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						AGCCATGCCCCCCCCAGTAGC	0.632000														13			6		0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3030711	3030711	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:3030711G>A	uc002fvc.1	-	0	135	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						TGACTAGAATGATGAGGAGGT	0.527000														44			27		0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67937723	67937723	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:67937723G>A	uc004dxb.3	+	5	1181	c.967G>A	c.(967-969)Gat>Aat	p.D323N	STARD8_uc004dxa.3_Missense_Mutation_p.D243N|STARD8_uc004dxc.4_Missense_Mutation_p.D243N	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	243					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GTGTCCTGAGGATGGACACCG	0.647000														16			9		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141755813	141755813	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:141755813C>T	uc003vwy.3	+	28	3551	c.3497C>T	c.(3496-3498)tCc>tTc	p.S1166F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1166	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.S1166F(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGAAGAATTCCTATGGTGTC	0.498000														13			6		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56344924	56344924	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:56344924C>T	uc002ivt.3	+	11	2224	c.1908C>T	c.(1906-1908)ttC>ttT	p.F636F	LPO_uc010wns.2_Silent_p.F577F|LPO_uc010dcp.3_Silent_p.F553F|LPO_uc010dcq.3_Silent_p.F307F|LPO_uc010dcr.3_Silent_p.F199F	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	636					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GCAAGCAGTTCCAGCAGATCC	0.642000														23			7		0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35242162	35242162	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:35242162C>T	uc011kas.2	-	7	1704	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	408						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TGGGGCCACTCCCTTGCATGG	0.557000														24			5		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51266974	51266974	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:51266974C>T	uc011bds.2	+	18	1874	c.1851C>T	c.(1849-1851)gcC>gcT	p.A617A		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	617	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	p.R617Q(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGTGGAAAGCCTTCCCCGACC	0.448000														20			5		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155823530	155823530	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:155823530G>A	uc001flz.2	-	1	139	c.42C>T	c.(40-42)tcC>tcT	p.S14S	GON4L_uc001fly.1_Silent_p.S14S|GON4L_uc009wrh.1_Silent_p.S14S|GON4L_uc001fma.1_Silent_p.S14S|GON4L_uc001fmc.3_Silent_p.S14S|GON4L_uc001fmd.4_Silent_p.S14S|GON4L_uc009wri.3_5'UTR	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	14					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TATGCTGTAGGGACTCTGTCA	0.398000														30			22		0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52551603	52551603	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr18:52551603G>A	uc002lfr.3	+	3	522	c.279G>A	c.(277-279)atG>atA	p.M93I		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	93					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		GAGACGCCATGGGCTTCTTAT	0.448000														24			22		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128608	152128608	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:152128608C>T	uc001ezs.1	-	2	1032	c.967G>A	c.(967-969)Gac>Aac	p.D323N		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	323	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCTTGTCTGTCCGTCTGACTG	0.498000														379			302		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825098	4825098	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:4825098G>A	uc021qcs.1	-	0	513	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTGTTGGCAGAAGGGCATCC	0.547000														21			10		0	0	1	0	0
TMEM201	199953	broad.mit.edu	37	1	9662213	9662213	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:9662213C>T	uc021ofy.1	+	5	1100	c.1043C>T	c.(1042-1044)tCg>tTg	p.S348L	TMEM201_uc001apy.3_Missense_Mutation_p.S348L|TMEM201_uc021ofz.1_Missense_Mutation_p.S189L	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	Homo sapiens transmembrane protein 201 (TMEM201), transcript variant 1, mRNA.	348						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CAGGCCGCCTCGCCTAGCTGG	0.647000														17			33		0	0	1	0	0
TRGV3	6976	broad.mit.edu	37	7	38398350	38398350	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:38398350G>A	uc003tgr.2	-	1	220	c.117C>T	c.(115-117)atC>atT	p.I39I	LOC100506776_uc003tgp.2_Intron					RecName: Full=T-cell receptor gamma chain V region PT-gamma-1/2; Flags: Precursor;																		GATCGCAAGTGATTTCAGCAG	0.488000														73			21		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2813976	2813976	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:2813976C>T	uc002crk.3	+	10	3996	c.3447C>T	c.(3445-3447)gaC>gaT	p.D1149D	SRRM2_uc002crj.1_Silent_p.D1053D|SRRM2_uc002crl.1_Silent_p.D1149D|SRRM2_uc010bsu.1_Silent_p.D1053D	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1149	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTACAGTGGACTCGAATTCTC	0.478000														57			13		0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10136044	10136044	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:10136044C>T	uc003buw.3	+	39	4038	c.3960C>T	c.(3958-3960)caC>caT	p.H1320H	FANCD2_uc003bux.1_Silent_p.H1320H|FANCD2_uc003buy.1_Silent_p.H1320H|FANCD2_uc010hcw.1_Non-coding_Transcript|C3orf24_uc003buz.3_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	1320					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTAGAAAACACCGGGTAAGAG	0.468000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					77			101		0	0	1	0	0
C10orf81	79949	broad.mit.edu	37	10	115515061	115515061	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr10:115515061C>T	uc001lar.2	+	1	352	c.25C>T	c.(25-27)Cca>Tca	p.P9S	C10orf81_uc009xyc.2_5'UTR|C10orf81_uc001las.2_5'UTR	NM_024889	NP_079165	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 4, mRNA.	0										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		TCAGAAGAGTCCAGGTACCCG	0.458000														16			5		0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35480375	35480375	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr22:35480375G>A	uc003anj.3	+	3	1333	c.382_splice	c.e3-1	p.I128_splice		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	128						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CCTGATTACAGATCTGGTTCC	0.517000														14			15		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326311	152326311	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:152326311C>T	uc001ezw.4	-	2	4024	c.3951G>A	c.(3949-3951)caG>caA	p.Q1317Q	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1317							calcium ion binding|structural molecule activity	p.Q1317Q(2)		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)			TATCTCCTCTCTGTCCATGAG	0.473000														105			77		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80419517	80419517	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:80419517G>A	uc003kha.2	+	15	2577	c.2527G>A	c.(2527-2529)Gac>Aac	p.D843N	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	843					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCCTGCAGCGGACACCACAGA	0.527000														18			22		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96058182	96058182	+	Silent	SNP	T	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr10:96058182T>G	uc001kjk.3	+	23	5848	c.5214T>G	c.(5212-5214)ccT>ccG	p.P1738P	PLCE1_uc010qnx.2_Silent_p.P1722P|PLCE1_uc001kjm.3_Silent_p.P1430P|PLCE1_uc001kjp.3_Silent_p.P96P	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1738	PI-PLC Y-box.|Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma (By similarity).				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CTTCTTCCCCTCTCAACCCAA	0.453000														3			38		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4732873	4732873	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:4732873C>T	uc003bqc.3	+	30	4179	c.3829C>T	c.(3829-3831)Cag>Tag	p.Q1277*	ITPR1_uc021wsi.1_Nonsense_Mutation_p.Q1283*|ITPR1_uc021wsj.1_Nonsense_Mutation_p.Q1268*|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1292					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GAACAATTTCCAGCTTTGCAG	0.448000														6			16		0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143436032	143436032	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:143436032G>A	uc003ywj.3	-	0	93	c.54C>T	c.(52-54)ttC>ttT	p.F18F	TSNARE1_uc011lju.2_Silent_p.F18F|TSNARE1_uc003ywk.3_Silent_p.F18F|TSNARE1_uc003ywl.4_Silent_p.F18F	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	18			F -> L (in dbSNP:rs7814359).		vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AAGGTCCCCCGAAAGGGCCAC	0.612000														49			4		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77288693	77288693	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:77288693C>T	uc003hkb.4	-	10	1737	c.1584G>A	c.(1582-1584)ttG>ttA	p.L528L		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	528										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CCTGCAATTTCAAGTCCACCC	0.488000														31			25		0	0	1	0	0
CLEC18B	497190	broad.mit.edu	37	16	74443752	74443752	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:74443752C>T	uc002fct.3	-	10	1436	c.1236G>A	c.(1234-1236)atG>atA	p.M412I	CLEC18B_uc002fcu.3_Intron	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA.	412	C-type lectin.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTGCCTACCCCATGGCAGCAC	0.637000														47			5		0	0	1	0	0
CLDN10	9071	broad.mit.edu	37	13	96086220	96086220	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr13:96086220C>T	uc001vmg.2	+	0	368	c.133C>T	c.(133-135)Cag>Tag	p.Q45*	CLDN10_uc010tii.1_Nonsense_Mutation_p.Q45*	NM_182848	NP_878268	P78369	CLD10_HUMAN	Homo sapiens claudin 10 (CLDN10), transcript variant a, mRNA.	47					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.Y44C(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			TTGGGTTTACCAGGGTCTGTG	0.507000														38			12		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71003913	71003913	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:71003913G>A	uc003pfg.4	-	4	812	c.653C>T	c.(652-654)gCt>gTt	p.A218V		NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	218	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCCCAGCACAGCAAAGCCATC	0.398000														32			17		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245843	46245843	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:46245843C>T	uc001ros.1	+	14	3937	c.3937C>T	c.(3937-3939)Caa>Taa	p.Q1313*	ARID2_uc001ror.3_Nonsense_Mutation_p.Q1313*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q769*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q940*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q647*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1313					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGGGAAAATTCAAAGTGAGAC	0.398000			"""N, S, F"""		hepatocellular carcinoma									3			17		0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171544499	171544499	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:171544499C>T	uc003mbo.1	-	3	806	c.506G>A	c.(505-507)gGa>gAa	p.G169E		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	169	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTGATGTCTCCCTCGAGGGT	0.607000														36			11		0	0	1	0	0
PEF1	553115	broad.mit.edu	37	1	32101024	32101024	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:32101024G>A	uc001bth.2	-	1	497	c.124C>T	c.(124-126)Cct>Tct	p.P42S	PEF1_uc021okp.1_5'UTR|PEF1_uc021okq.1_Intron|PEF1_uc001bte.1_5'Flank|PEF1_uc010ogm.2_Missense_Mutation_p.P42S	NM_012392	NP_036524	Q9UBV8	PEF1_HUMAN	Homo sapiens penta-EF-hand domain containing 1 (PEF1), transcript variant 1, mRNA.	42	9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		CCACCACCAGGGGGTAGCCCA	0.647000														11			7		0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	32483253	32483253	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:32483253G>A	uc002hhu.3	-	0	573	c.299C>T	c.(298-300)tCc>tTc	p.S100F		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA.	100					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GGTGAGCCTGGAGAACCGGAA	0.587000														13			28		0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22040815	22040815	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr22:22040815C>T	uc010gtj.1	+	10	874	c.758C>T	c.(757-759)aCc>aTc	p.T253I	PPIL2_uc002zvh.4_Missense_Mutation_p.T253I|PPIL2_uc002zvi.4_Missense_Mutation_p.T253I|PPIL2_uc002zvg.4_Missense_Mutation_p.T253I|PPIL2_uc011aij.2_Missense_Mutation_p.T232I|PPIL2_uc002zvk.4_5'UTR	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	253					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					TTCACCTCCACCGCGATGGTC	0.627000														35			23		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237994814	237994814	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:237994814G>A	uc001hyl.1	+	104	14877	c.14757_splice	c.e104-1	p.L4919_splice	RYR2_uc010pyb.1_Splice_Site_p.V319_splice	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4919					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTATCTGTAGGTTTTTTCTGA	0.328000														18			7		0	0	1	0	0
POPDC3	64208	broad.mit.edu	37	6	105607652	105607652	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:105607652G>A	uc003prb.3	-	2	930	c.528C>T	c.(526-528)ttC>ttT	p.F176F	BVES-AS1_uc003pqz.3_Intron|POPDC3_uc003pra.3_Non-coding_Transcript	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	Homo sapiens popeye domain containing 3 (POPDC3), transcript variant 1, mRNA.	176				F -> S (in Ref. 1; AAG23404).		integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				ACTGAAGGGGGAAAATGTAAT	0.443000														11			6		0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135323391	135323391	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:135323391G>A	uc004ezt.3	-	4	684	c.463C>T	c.(463-465)Ctt>Ttt	p.L155F	MAP7D3_uc004ezs.3_Missense_Mutation_p.L155F|MAP7D3_uc011mwc.2_Missense_Mutation_p.L137F|MAP7D3_uc010nsa.2_Missense_Mutation_p.L154F	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	155						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TCATCAGCAAGTCTCCTCCGT	0.323000														36			22		0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15443999	15443999	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:15443999C>T	uc003gno.3	+	2	726	c.467C>T	c.(466-468)gCc>gTc	p.A156V	C1QTNF7_uc011bxb.2_Missense_Mutation_p.A149V|C1QTNF7_uc003gnp.3_Missense_Mutation_p.A149V	NM_001135170	NP_114117	Q9BXJ2	C1QT7_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 7 (C1QTNF7), transcript variant 1, mRNA.	149	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CTCAAATCCGCCTTTTCTGTT	0.517000														167			112		0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900742	151900743	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:151900742_151900743CC>AT	uc022chj.1	-	0	58_59	c.58_59GG>AT	c.(58-60)gga>ATa	p.G20I	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.G20I|MAGEA12_uc022chi.1_Missense_Mutation_p.G20I|MAGEA12_uc004fgc.3_Missense_Mutation_p.G20I|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	20										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGGCCTCTCCTTGGGCCTCA	0.624000														42			34		0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98072733	98072733	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:98072733C>T	uc011bgv.2	+	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CAGCTGAATTCATCCTCATAG	0.418000														42			14		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169837077	169837077	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:169837077G>A	uc011cjx.2	+	16	2960	c.2749G>A	c.(2749-2751)Gaa>Aaa	p.E917K	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Missense_Mutation_p.E900K|PALLD_uc003irv.3_Missense_Mutation_p.E518K|PALLD_uc003irw.3_Missense_Mutation_p.E413K|PALLD_uc003irx.3_Missense_Mutation_p.E126K	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	1124					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CAGTGGAGACGAAAATGAACC	0.418000									Pancreatic Cancer, Familial Clustering of					28			14		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35991268	35991268	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:35991268G>A	uc003jjv.2	-	0	268	c.75C>T	c.(73-75)atC>atT	p.I25I	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.I25I|UGT3A1_uc011cor.2_Silent_p.I25I|UGT3A1_uc003jjy.2_Intron	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	25						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATATTGTCAGGATTTTGGCAG	0.592000														109			23		0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118184839	118184839	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:118184839G>A	uc003yoh.3	+	7	1259	c.1029G>A	c.(1027-1029)acG>acA	p.T343T	SLC30A8_uc010mcz.3_Silent_p.T294T|SLC30A8_uc003yog.3_Silent_p.T294T|SLC30A8_uc011lia.2_Silent_p.T294T|SLC30A8_uc022bab.1_Silent_p.T294T	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	343					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AAAGCTTTACGATGCACTCAC	0.502000														84			48		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109660610	109660610	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:109660610A>T	uc001tob.3	+	25	3804	c.3685A>T	c.(3685-3687)Att>Ttt	p.I1229F	ACACB_uc001toc.3_Missense_Mutation_p.I1229F	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1229					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GCAGATCCTGATTGCCTCCCA	0.647000														2			14		0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7887695	7887695	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:7887695C>T	uc001aop.3	+	16	2930	c.2706C>T	c.(2704-2706)ccC>ccT	p.P902P	PER3_uc009vmg.1_Silent_p.P902P|PER3_uc009vmh.1_Silent_p.P895P|PER3_uc001aoo.3_Silent_p.P894P|PER3_uc010nzw.2_Silent_p.P583P	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	894					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACCCACCCCCTTCAGTCA	0.547000														22			66		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023395	76023395	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:76023395C>T	uc010kbe.3	-	5	2692	c.2162G>A	c.(2161-2163)cGa>cAa	p.R721Q	FILIP1_uc003phy.1_Missense_Mutation_p.R718Q|FILIP1_uc003phz.3_Missense_Mutation_p.R619Q|FILIP1_uc003pia.3_Missense_Mutation_p.R718Q|FILIP1_uc003pib.1_Missense_Mutation_p.R470Q	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	718										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTTTAAGTCTCGACTTTTAGC	0.403000														37			33		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	A	A	rs77484671		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:145367767G>A	uc021oul.1	+	82	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3455								p.E3455K(10)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000														24			4		0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154516521	154516521	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:154516521G>C	uc009wow.3	+	8	1424	c.586G>C	c.(586-588)Gcg>Ccg	p.A196P	TDRD10_uc001ffd.3_Missense_Mutation_p.A196P|TDRD10_uc001ffe.3_Missense_Mutation_p.A117P	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	196							RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCGTGGGGAGGCGGGGCTGCT	0.617000														102			15		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52200305	52200305	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:52200305G>A	uc001ryw.3	+	26	5213	c.5035G>A	c.(5035-5037)Gag>Aag	p.E1679K	SCN8A_uc010snl.2_Missense_Mutation_p.E1638K	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1679					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TGTGAAGCACGAGGCTGGTAT	0.478000														40			37		0	0	1	0	0
PHKG2	5261	broad.mit.edu	37	16	30762446	30762446	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:30762446C>T	uc002dzk.2	+	2	325	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	PHKG2_uc021tgo.1_Missense_Mutation_p.R39C|PHKG2_uc002dzl.1_Missense_Mutation_p.R39C	NM_000294	NP_000285	P15735	PHKG2_HUMAN	Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA.	39	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			CTCTGTGGTCCGCCGTTGTGT	0.582000														23			23		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634224	70634224	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr14:70634224C>T	uc001xly.3	-	1	1670	c.916G>A	c.(916-918)Ggg>Agg	p.G306R	SLC8A3_uc001xlw.3_Missense_Mutation_p.G306R|SLC8A3_uc001xlx.3_Missense_Mutation_p.G306R|SLC8A3_uc001xlz.3_Missense_Mutation_p.G306R|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	306					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ACTTCCTTCCCTTCCAGGGGC	0.488000														0			32		0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60435628	60435628	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr13:60435628G>A	uc001vht.3	-	21	2869	c.2650C>T	c.(2650-2652)Cat>Tat	p.H884Y	DIAPH3_uc001vhu.3_Missense_Mutation_p.H621Y|DIAPH3_uc001vhv.3_Missense_Mutation_p.H462Y	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	884	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ACCAGGAAATGAAGTAGCGTT	0.358000														31			9		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423853	56423853	+	Missense_Mutation	SNP	C	T	T	rs150988752		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:56423853C>T	uc010ygg.2	-	4	1355	c.1330G>A	c.(1330-1332)Gat>Aat	p.D444N		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	444	NACHT.						ATP binding	p.Y443Y(1)|p.Y443*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GACTGGAGATCGTAATACCTC	0.483000														33			9		0	0	1	0	0
CCDC144C	348254	broad.mit.edu	37	17	20269221	20269221	+	RNA	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:20269221C>T	uc010cqy.1	+	11		c.3388C>T								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.											breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						TGCCAAAAATCTTCAAGCTGA	0.373000														16			4		0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28501787	28501787	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:28501787C>T	uc003nll.2	+	4	511	c.509C>T	c.(508-510)tCc>tTc	p.S170F	GPX5_uc003nlm.2_3'UTR|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	170					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	AAATCTATATCCTGGGACCCT	0.493000														139			24		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329028	152329028	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:152329028C>T	uc001ezw.4	-	2	1307	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	412	Ser-rich.						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)			TTGGAAAATTCATTTGAACTA	0.428000														83			20		0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100490111	100490111	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:100490111G>A	uc003uxd.3	-	1	1553	c.1397C>T	c.(1396-1398)tCc>tTc	p.S466F	UFSP1_uc003uxc.4_5'Flank|ACHE_uc003uxe.3_Missense_Mutation_p.S466F|ACHE_uc003uxf.3_Missense_Mutation_p.S466F|ACHE_uc003uxg.3_Missense_Mutation_p.S466F|ACHE_uc003uxh.3_Missense_Mutation_p.S378F|ACHE_uc003uxi.3_Missense_Mutation_p.S466F	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	466					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GGAGAGCGTGGAAGCACGGTG	0.652000														36			58		0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56098217	56098217	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:56098217C>T	uc002rzi.3	-	9	1543	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	EFEMP1_uc002rzj.3_Missense_Mutation_p.E348K|EFEMP1_uc010ypc.2_Missense_Mutation_p.E210K	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	348	EGF-like 6; calcium-binding (Potential).|Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAACACATTTCATCCTCCCGG	0.373000														28			9		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92600131	92600131	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:92600131G>A	uc001pdj.4	+	20	11900	c.11883G>A	c.(11881-11883)ctG>ctA	p.L3961L	FAT3_uc001pdi.4_Silent_p.L401L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3961	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCGGCGCCCTGGTGCAAGCGG	0.617000										TCGA Ovarian(4;0.039)				9			6		0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101587519	101587519	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:101587519C>T	uc010yvt.1	+	11	1320	c.1318C>T	c.(1318-1320)Cac>Tac	p.H440Y	NPAS2_uc002tap.1_Missense_Mutation_p.H375Y	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	375					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.H375Y(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGAGGCCCTCCACTCCTCAGC	0.542000														50			20		0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122775078	122775078	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:122775078G>A	uc001pym.3	+	2	1087	c.790G>A	c.(790-792)Gga>Aga	p.G264R	C11orf63_uc001pyl.1_Missense_Mutation_p.G264R	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	264										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCTCACTTTGGGATTACCCAC	0.443000														63			52		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2908719	2908719	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:2908719C>T	uc010ckd.3	+	14	1347	c.1257C>T	c.(1255-1257)ccC>ccT	p.P419P	RAP1GAP2_uc010cke.3_Silent_p.P404P	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	419	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TGCCCAGTCCCCCCGTTTTCC	0.567000														79			21		0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115612744	115612744	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr10:115612744G>A	uc001law.2	-	0	1116	c.198C>T	c.(196-198)ccC>ccT	p.P66P	NHLRC2_uc001lax.2_5'Flank	NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.	66	Nuclear localization region.				cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CATTTCCAAGGGGCACTTCAT	0.433000								Other identified genes with known or suspected DNA repair function						8			76		0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185161232	185161233	+	Splice_Site	DNP	GG	CT	CT			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:185161232_185161233GG>CT	uc010hyf.3	+	5	951	c.660_splice	c.e5-1	p.K220_splice	MAP3K13_uc011brt.2_Splice_Site_p.R13_splice|MAP3K13_uc003fph.4_Splice_Site|MAP3K13_uc011bru.2_Splice_Site_p.K76_splice|MAP3K13_uc003fpi.3_Splice_Site_p.K220_splice|MAP3K13_uc010hyg.3_Intron	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	220	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TTTCTTGGAAGGGGTGTTTGTA	0.361000														26			5		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171666	150171666	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:150171666G>A	uc003whj.3	+	3	1579	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	417						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CGAGCTCCTGGAAAAAATTGA	0.403000														28			51		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31201001	31201001	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:31201001G>A	uc004dda.1	-	67	10072	c.9828C>T	c.(9826-9828)atC>atT	p.I3276I	DMD_uc004dcq.1_Silent_p.I547I|DMD_uc004dcr.1_Silent_p.I816I|DMD_uc004dcs.1_Silent_p.I816I|DMD_uc004dct.1_Silent_p.I816I|DMD_uc004dcu.1_Silent_p.I816I|DMD_uc004dcv.1_Silent_p.I816I|DMD_uc004dcw.2_Silent_p.I1932I|DMD_uc004dcx.2_Silent_p.I1935I|DMD_uc004dcz.2_Silent_p.I3153I|DMD_uc004dcy.1_Silent_p.I3272I|DMD_uc004ddb.1_Silent_p.I3268I|DMD_uc004dcp.1_Silent_p.I208I|DMD_uc011mkb.1_Silent_p.I208I|DMD_uc004dcm.1_Silent_p.I208I|DMD_uc004dcn.1_Silent_p.I208I|DMD_uc004dco.1_Silent_p.I208I|DMD_uc010ngm.3_Silent_p.I208I	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3276	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGGCCGCTTCGATCTCTGGCT	0.527000														25			26		0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55889939	55889939	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:55889939C>G	uc001nii.1	+	0	91	c.91C>G	c.(91-93)Cta>Gta	p.L31V		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TCTGTTTATGCTATTTCTCCT	0.458000														56			37		0	0	1	0	0
PDK3	5165	broad.mit.edu	37	X	24517001	24517001	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:24517001C>T	uc004dbg.3	+	2	533	c.304C>T	c.(304-306)Cca>Tca	p.P102S	PDK3_uc004dbh.3_Missense_Mutation_p.P102S	NM_005391	NP_005382	Q15120	PDK3_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	102					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCCTGAGGATCCACAGGTCTT	0.303000														11			13		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148037456	148037456	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:148037456G>A	uc004fcp.3	+	10	2360	c.1881G>A	c.(1879-1881)ggG>ggA	p.G627G	AFF2_uc004fcq.3_Silent_p.G617G|AFF2_uc004fcr.3_Silent_p.G588G|AFF2_uc011mxb.2_Silent_p.G592G|AFF2_uc004fcs.3_Silent_p.G594G|AFF2_uc011mxc.2_Silent_p.G268G	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	627					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGACAATTGGGAAAAAACAGC	0.438000														74			58		0	0	1	0	0
FAM81B	153643	broad.mit.edu	37	5	94756058	94756058	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:94756058A>G	uc003kla.1	+	4	654	c.608A>G	c.(607-609)aAc>aGc	p.N203S	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	203										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CACGAGATAAACATCAAACAC	0.403000														26			32		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55501547	55501547	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:55501547C>T	uc021vbq.1	+	8	2635	c.2524C>T	c.(2524-2526)Ctg>Ttg	p.L842L	NLRP2_uc010yfp.2_Silent_p.L819L|NLRP2_uc002qij.3_Silent_p.L842L|NLRP2_uc010esp.3_Silent_p.L820L|NLRP2_uc010esn.3_Silent_p.L818L|NLRP2_uc010eso.3_Silent_p.L839L	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	842					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CAAGTGCTTTCTGCAGAGGTT	0.517000														11			17		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71004162	71004162	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:71004162T>C	uc003pfg.4	-	4	563	c.404A>G	c.(403-405)gAt>gGt	p.D135G		NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	135	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.D135N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCCAGAGGAATCCTGAATCTG	0.438000														43			34		0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22987402	22987402	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:22987402G>A	uc001bgd.3	+	2	417	c.285G>A	c.(283-285)atG>atA	p.M95I		NM_000491	NP_000482	P02746	C1QB_HUMAN	Homo sapiens complement component 1, q subcomponent, B chain (C1QB), mRNA.	95	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	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)	AGGGCCCCATGGGCCCTAAAG	0.622000														62			17		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72164554	72164554	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:72164554C>T	uc002fcc.4	-	10	1702	c.1530G>A	c.(1528-1530)agG>agA	p.R510R	PMFBP1_uc002fcd.3_Silent_p.R505R|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.R360R|PMFBP1_uc010cgo.1_5'Flank	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	510										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TCTGCAGTTTCCTCTGGGTGT	0.567000														29			30		0	0	1	0	0
SIAH3	283514	broad.mit.edu	37	13	46357905	46357905	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr13:46357905G>A	uc001vap.3	-	1	505	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA.	141					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CCAGGAAGACGATCTCGGCTC	0.617000														34			23		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237880530	237880530	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:237880530G>A	uc001hyl.1	+	71	10476	c.10356G>A	c.(10354-10356)atG>atA	p.M3452I	RYR2_uc010pxz.1_Missense_Mutation_p.M407I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3452					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAAGAAAATGAAGCGCAAAG	0.483000														8			10		0	0	1	0	0
C7orf62	219557	broad.mit.edu	37	7	88424217	88424217	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:88424217G>A	uc003ujv.3	-	1	222	c.40C>T	c.(40-42)Cct>Tct	p.P14S	ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Missense_Mutation_p.P14S	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA.	14										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						AGTGGCAAAGGCCTTTTGCTG	0.398000														39			51		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89480404	89480404	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:89480404C>T	uc003dqy.3	+	12	2466	c.2241C>T	c.(2239-2241)ctC>ctT	p.L747L	EPHA3_uc021xbf.1_Silent_p.L747L	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	747	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACCGAGACCTCGCTGCTCGGA	0.493000										TSP Lung(6;0.00050)				12			13		0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110454425	110454425	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:110454425G>A	uc001pkz.1	-	13	1737	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L	ARHGAP20_uc001pky.1_Silent_p.L461L|ARHGAP20_uc009yyb.1_Silent_p.L448L|ARHGAP20_uc001pla.1_Silent_p.L448L|ARHGAP20_uc001plb.2_Silent_p.L27L	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	484	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GATACCTTAGGAGAACAACAT	0.378000														11			7		0	0	1	0	0
ACAD8	27034	broad.mit.edu	37	11	134126487	134126487	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:134126487C>T	uc001qhk.3	+	1	216	c.155C>T	c.(154-156)gCc>gTc	p.A52V	ACAD8_uc009zdc.3_Missense_Mutation_p.P11S|ACAD8_uc010sco.1_Missense_Mutation_p.P11S|ACAD8_uc010scp.1_Non-coding_Transcript|ACAD8_uc010scq.2_Intron|ACAD8_uc001qhl.3_Intron|ACAD8_uc010scr.1_Missense_Mutation_p.A14V|ACAD8_uc009zde.1_5'Flank	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 8 (ACAD8), nuclear gene encoding mitochondrial protein, mRNA.	52					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		CAAAAAGTGGCCTTTGACTTT	0.468000														9			9		0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40093616	40093616	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:40093616G>A	uc001zkj.1	-	2	2131	c.1265C>T	c.(1264-1266)gCc>gTc	p.A422V	GPR176_uc010uck.1_Missense_Mutation_p.A362V	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	422					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CAGGGGTGGGGCAGAGGGCGC	0.572000														59			81		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61600336	61600336	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr18:61600336C>T	uc010xev.2	+	6	778	c.688C>T	c.(688-690)Cac>Tac	p.H230Y	SERPINB2_uc010xew.2_Missense_Mutation_p.H230Y	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	245					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCACATTTTTCACATAGAAAA	0.373000														18			27		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909411	123909411	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:123909411G>A	uc001pzq.1	-	0	298	c.298C>T	c.(298-300)Ctc>Ttc	p.L100F		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAAAAATAGAGCTGAGCCACG	0.532000														60			32		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65252493	65252493	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr14:65252493C>T	uc001xht.3	-	15	3789	c.3738G>A	c.(3736-3738)aaG>aaA	p.K1246K	SPTB_uc001xhr.3_Silent_p.K1246K|SPTB_uc001xhs.3_Silent_p.K1246K|SPTB_uc001xhu.3_Silent_p.K1246K	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1246					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCACCTTCTCCTTGATCTTGT	0.572000														64			36		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42227424	42227424	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:42227424G>A	uc003ose.2	-	8	2545	c.1982C>T	c.(1981-1983)gCc>gTc	p.A661V	TRERF1_uc011duq.1_Missense_Mutation_p.A558V|TRERF1_uc003osb.2_Missense_Mutation_p.A397V|TRERF1_uc003osc.2_Missense_Mutation_p.A397V|TRERF1_uc003osd.2_Missense_Mutation_p.A641V	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	641	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGGCTCCTCGGCTTTGGGCAC	0.592000														32			35		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323668	31323668	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr18:31323668C>T	uc010dmg.1	+	11	3911	c.3856C>T	c.(3856-3858)Cag>Tag	p.Q1286*	ASXL3_uc002kxq.2_Nonsense_Mutation_p.Q993*	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1286	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAAAACCATCCAGGGAACTGA	0.413000														30			8		0	0	1	0	0
MYLIP	29116	broad.mit.edu	37	6	16143273	16143273	+	Silent	SNP	T	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:16143273T>C	uc003nbq.3	+	3	724	c.487T>C	c.(487-489)Ttg>Ctg	p.L163L	MYLIP_uc003nbr.3_5'UTR	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	163	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			ACATAAGGAGTTGGAGGGGAC	0.438000														16			3		0	0	1	0	0
TPTEP1	387590	broad.mit.edu	37	22	17119529	17119529	+	RNA	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr22:17119529C>T	uc002zls.1	+	1		c.366C>T			TPTEP1_uc002zlr.3_Non-coding_Transcript|TPTEP1_uc002zlt.3_Non-coding_Transcript					Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		ACCTAATTTTCACTGACAGCA	0.333000														15			23		0	0	1	0	0
IGFL1	374918	broad.mit.edu	37	19	46733364	46733364	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:46733364G>A	uc002pee.3	+	2	49	c.26_splice	c.e2-1	p.A9_splice		NM_198541	NP_940943	Q6UW32	IGFL1_HUMAN	Homo sapiens IGF-like family member 1 (IGFL1), mRNA.	9						extracellular space	protein binding			lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		CTTTCCCACAGCTGTCTTTGC	0.562000														37			15		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70961825	70961825	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:70961825G>A	uc003pfg.4	-	27	2029	c.1870C>T	c.(1870-1872)Cct>Tct	p.P624S	COL9A1_uc003pfe.4_Missense_Mutation_p.P197S|COL9A1_uc003pff.4_Missense_Mutation_p.P381S	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	624	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ATACTCACAGGAAGCCCCTGG	0.483000														32			24		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30963131	30963131	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:30963131C>T	uc003tbv.2	+	3	807	c.697C>T	c.(697-699)Cca>Tca	p.P233S	FAM188B_uc011kac.1_Missense_Mutation_p.P293S|FAM188B_uc010kwf.1_Missense_Mutation_p.P150S|FAM188B_uc010kwh.1_Missense_Mutation_p.P182S|FAM188B_uc022abh.1_Missense_Mutation_p.P118S	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATCCTGGCCCCACGCAGCAG	0.592000														26			22		0	0	1	0	0
HSF2BP	11077	broad.mit.edu	37	21	45076493	45076493	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr21:45076493G>A	uc002zdi.3	-	2	494	c.162C>T	c.(160-162)ttC>ttT	p.F54F	RRP1B_uc002zdk.3_5'Flank|HSF2BP_uc011aey.2_Intron	NM_007031	NP_008962	O75031	HSF2B_HUMAN	Homo sapiens heat shock transcription factor 2 binding protein (HSF2BP), mRNA.	54					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		TTAATTTCTGGAAGCTCTCCA	0.388000														43			7		0	0	1	0	0
SPAG11B	10407	broad.mit.edu	37	8	7308374	7308374	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:7308374C>T	uc003wrl.3	-	2	430	c.263G>A	c.(262-264)gGg>gAg	p.G88E	SPAG11B_uc003wrg.1_Missense_Mutation_p.G88E|SPAG11B_uc003wrh.1_Intron|SPAG11B_uc003wri.3_3'UTR|SPAG11B_uc003wrj.3_Missense_Mutation_p.G35E|SPAG11B_uc003wrk.3_3'UTR	NM_058201	NP_478108	Q08648	SG11B_HUMAN	Homo sapiens sperm associated antigen 11B (SPAG11B), transcript variant D, mRNA.	0					spermatogenesis	extracellular region				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TCTGCAGATCCCTTGCTGCAT	0.418000														35			29		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16253384	16253384	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:16253384G>A	uc002den.4	-	25	3727	c.3690C>T	c.(3688-3690)atC>atT	p.I1230I	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	1230					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CCACTGACACGATGCTGTTCT	0.607000														22			16		0	0	1	0	0
GALNTL1	57452	broad.mit.edu	37	14	69805411	69805411	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr14:69805411C>T	uc001xlb.2	+	9	1338	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	GALNTL1_uc001xla.2_Silent_p.I337I|GALNTL1_uc010aqu.2_Silent_p.I337I	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	337	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		GTCTGGAGATCGTCCCCTGCA	0.582000														4			32		0	0	1	0	0
RAD18	56852	broad.mit.edu	37	3	8940727	8940727	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:8940727C>T	uc003brd.3	-	10	1263	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q		NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	Homo sapiens RAD18 homolog (S. cerevisiae) (RAD18), mRNA.	391					DNA repair	nucleus|replication fork	Y-form DNA binding|damaged DNA binding|ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TATTATCTTCCTGTCCTAGGA	0.373000								Rad6 pathway						6			8		0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131212172	131212172	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:131212172C>T	uc004ewn.3	-	11	2051	c.1873G>A	c.(1873-1875)Gat>Aat	p.D625N	FRMD7_uc022cdy.1_Missense_Mutation_p.D505N|FRMD7_uc011muy.2_Missense_Mutation_p.D610N	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	625					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GCAAACATATCCGTAAACAGG	0.423000														37			45		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872986	55872986	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:55872986C>T	uc010riy.2	+	0	468	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTATAGACTCCTTTGTCAACG	0.443000										HNSCC(53;0.14)				55			35		0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142511672	142511672	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:142511672G>A	uc003evc.3	+	8	1580	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N	TRPC1_uc003evb.3_Missense_Mutation_p.D448N|TRPC1_uc011bni.1_Intron	NM_001251845	NP_001238774	P48995	TRPC1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA.	482					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTAGTTTCATGATTTTGCTGA	0.358000														15			25		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834450	101834450	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:101834450C>T	uc003knn.3	-	0	271	c.99G>A	c.(97-99)agG>agA	p.R33R	SLCO6A1_uc003kno.3_Silent_p.R33R|SLCO6A1_uc003knp.3_Silent_p.R33R|SLCO6A1_uc003knq.3_Silent_p.R33R	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	33						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCTTGGCCCTCCTGTCCTTAG	0.607000														154			112		0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107594984	107594984	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr9:107594984G>A	uc004bcl.3	-	11	1784	c.1380C>T	c.(1378-1380)gcC>gcT	p.A460A		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	460					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CGATGTCTTGGGCTGTCCAAT	0.493000														16			16		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526585	84526585	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:84526585A>T	uc004eeq.3	+	9	3061	c.2175A>T	c.(2173-2175)aaA>aaT	p.K725N	ZNF711_uc004eep.3_Missense_Mutation_p.K679N|ZNF711_uc004eeo.3_Missense_Mutation_p.K679N|ZNF711_uc011mqy.1_Missense_Mutation_p.K278N	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	679					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGAAATGTAAAAGGTGCAAGA	0.368000														47			19		0	0	1	0	0
CAPN2	824	broad.mit.edu	37	1	223940530	223940531	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:223940530_223940531CC>TT	uc001hob.4	+	8	1231_1232	c.1007_1008CC>TT	c.(1006-1008)tcc>tTT	p.S336F	CAPN2_uc010puy.2_Missense_Mutation_p.S258F	NM_001748	NP_001139540	P17655	CAN2_HUMAN	Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA.	336	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		AGGCACTATTCCCGCCTGGAGA	0.505000														24			16		0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2111297	2111297	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:2111297G>A	uc002lva.3	-	25	3195	c.2972C>T	c.(2971-2973)tCc>tTc	p.S991F	AP3D1_uc010dsv.3_Missense_Mutation_p.S19F|AP3D1_uc002luy.3_Missense_Mutation_p.S888F|AP3D1_uc002luz.3_Missense_Mutation_p.S929F	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	929					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		TTTAACATAGGAATTTTCAGC	0.612000														29			14		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62045702	62045702	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:62045702G>A	uc002jds.1	-	5	794	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	239					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGGCCCCCACGATCGTCTTCA	0.602000														40			29		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111436534	111436534	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:111436534G>A	uc003iab.4	+	8	1786	c.1444_splice	c.e8-1	p.G482_splice		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	482					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CCATTGTAGGGATCTTCTATT	0.294000														21			11		0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119234470	119234470	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:119234470C>T	uc003ica.2	-	6	1422	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	459	SRCR 3.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AATCTGGTTTCCTTTCCTGAG	0.502000														37			27		0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53126614	53126614	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:53126614G>A	uc003dgj.3	-	11	1283	c.1229C>T	c.(1228-1230)gCc>gTc	p.A410V		NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	Homo sapiens RFT1 homolog (S. cerevisiae) (RFT1), mRNA.	410					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		GGAGGACAGGGCCAGCATCAC	0.542000														6			4		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896957	175896957	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:175896957C>A	uc003iuc.3	+	4	951	c.281C>A	c.(280-282)cCa>cAa	p.P94Q	ADAM29_uc003iud.3_Missense_Mutation_p.P94Q|ADAM29_uc010irr.3_Missense_Mutation_p.P94Q|ADAM29_uc011cki.2_Missense_Mutation_p.P94Q|ADAM29_uc021xuo.1_Missense_Mutation_p.P94Q	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	94					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GAGGACCAGCCATTTGTCCAG	0.448000														27			18		5.01169e-05	5.02588e-05	1	1	0
C15orf2	23742	broad.mit.edu	37	15	24924051	24924051	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:24924051A>G	uc001ywo.3	+	0	3511	c.3037A>G	c.(3037-3039)Acc>Gcc	p.T1013A		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1013					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GGGACCTGGAACCCCTATGGA	0.522000														26			8		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155267673	155267673	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:155267673C>T	uc021xge.1	-	8	1506	c.1229G>A	c.(1228-1230)gGa>gAa	p.G410E	PLCH1_uc021xgd.1_Missense_Mutation_p.G410E|PLCH1_uc021xgf.1_Missense_Mutation_p.G392E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	410	PI-PLC X-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G392E(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCCGAATATTCCTTTCAGGTA	0.438000														24			5		0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38031517	38031517	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:38031517G>A	uc002hte.3	+	6	872	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	ZPBP2_uc002htf.3_Missense_Mutation_p.R218Q	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA.	240					binding of sperm to zona pellucida	extracellular region		p.R240*(2)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCAAGAGATCGAATAGAAGAC	0.353000														33			8		0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10431281	10431281	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:10431281C>T	uc001aqx.4	+	44	5109	c.4907C>T	c.(4906-4908)cCc>cTc	p.P1636L	KIF1B_uc001aqw.4_Missense_Mutation_p.P1590L|KIF1B_uc001aqy.3_Missense_Mutation_p.P1610L|KIF1B_uc001aqz.3_Missense_Mutation_p.P1636L|KIF1B_uc001ara.3_Missense_Mutation_p.P1596L|KIF1B_uc001arb.3_Missense_Mutation_p.P1622L	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1636					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCCACCTGTCCCTCTCTGGTA	0.488000														28			14		0	0	1	0	0
BCL3	602	broad.mit.edu	37	19	45262726	45262726	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:45262726C>A	uc010xxe.2	+	8	1289	c.1219C>A	c.(1219-1221)Ccc>Acc	p.P407T		NM_005178	NP_005169	P20749	BCL3_HUMAN	Homo sapiens B-cell CLL/lymphoma 3 (BCL3), mRNA.	407	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	p.P407T(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CTCCCAGTCTCCCCCCAGGGA	0.627000			T	IGH@	CLL									109			168		7.7851e-62	7.94199e-62	1	1	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74701796	74701796	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:74701796G>A	uc001dge.2	+	3	421	c.354G>A	c.(352-354)aaG>aaA	p.K118K	FPGT-TNNI3K_uc001dgc.2_Silent_p.K118K|FPGT-TNNI3K_uc001dgd.3_Silent_p.K118K|FPGT-TNNI3K_uc001dgf.2_Silent_p.K17K	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	17						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										ATGAATGGAAGAAAAAAGTCA	0.308000														16			9		0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129148820	129148820	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:129148820C>T	uc022cdu.1	+	2	2116	c.2072C>T	c.(2071-2073)cCc>cTc	p.P691L	BCORL1_uc010nrd.1_Missense_Mutation_p.P593L	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	691					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GTCATCTTTCCCGAGATCGTG	0.597000														42			24		0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216850658	216850658	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:216850658C>T	uc001hkw.2	-	1	405	c.232G>A	c.(232-234)Gga>Aga	p.G78R	ESRRG_uc009xdp.1_Missense_Mutation_p.G55R|ESRRG_uc001hky.1_Missense_Mutation_p.G55R|ESRRG_uc001hkz.2_Missense_Mutation_p.G55R|ESRRG_uc010puc.2_Missense_Mutation_p.G55R|ESRRG_uc001hla.2_Missense_Mutation_p.G55R|ESRRG_uc001hlb.2_Missense_Mutation_p.G55R|ESRRG_uc010pud.2_Intron|ESRRG_uc021pja.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.G55R|ESRRG_uc001hld.1_Missense_Mutation_p.G55R|ESRRG_uc001hkx.2_Missense_Mutation_p.G83R|ESRRG_uc009xdo.2_Missense_Mutation_p.G55R|ESRRG_uc001hle.2_Missense_Mutation_p.G55R|ESRRG_uc021piz.1_Missense_Mutation_p.G55R	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	78					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GAGTCAAGTCCGTTCTGATGG	0.567000														38			29		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869915	4869915	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:4869915G>A	uc010qyo.2	-	0	524	c.524C>T	c.(523-525)cCc>cTc	p.P175L		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGGCAGTAGGGCATGTAGGC	0.542000														35			36		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108029159	108029159	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:108029159C>T	uc001tmk.1	+	11	3250	c.2729C>T	c.(2728-2730)tCg>tTg	p.S910L	BTBD11_uc009zut.1_Missense_Mutation_p.S791L|BTBD11_uc001tmj.3_Missense_Mutation_p.S910L|BTBD11_uc001tml.1_Missense_Mutation_p.S447L|BTBD11_uc001tmm.1_5'UTR	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	910						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAACAGACCTCGCGCTTGGGT	0.552000														5			22		0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34018860	34018860	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr21:34018860G>A	uc002yqh.2	-	23	3207	c.3207C>T	c.(3205-3207)ctC>ctT	p.L1069L	SYNJ1_uc011ads.1_Silent_p.L1025L|SYNJ1_uc002yqf.2_Silent_p.L1030L|SYNJ1_uc002yqg.2_Silent_p.L1025L|SYNJ1_uc002yqi.2_Silent_p.L1069L	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	1030	Pro-rich.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AAGATGGCTGGAGATGCTGAG	0.493000														20			32		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23863396	23863396	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr14:23863396C>T	uc001wjv.3	-	20	2637	c.2566G>A	c.(2566-2568)Gaa>Aaa	p.E856K		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	856					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCGAACTCTTCCTTCATGGTG	0.562000														4			46		0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954281	30954281	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:30954281C>T	uc003nsh.2	+	1	580	c.329C>T	c.(328-330)tCc>tTc	p.S110F	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.S94F	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	110	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AACTCTGAGTCCAGCACAACC	0.577000														209			63		0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62569260	62569260	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:62569260G>A	uc001nvf.1	-	5	726	c.590C>T	c.(589-591)cCc>cTc	p.P197L	NXF1_uc001nvg.1_Missense_Mutation_p.P197L|NXF1_uc009yog.1_Missense_Mutation_p.P240L|NXF1_uc010rmh.1_Missense_Mutation_p.P60L	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	Homo sapiens nuclear RNA export factor 1 (NXF1), transcript variant 1, mRNA.	197	Interaction with THOC4.|RRM.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TATAGTGTGGGGTGGAGCAGA	0.468000														34			31		0	0	1	0	0
FUNDC2	65991	broad.mit.edu	37	X	154282877	154282877	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:154282877C>T	uc004fmw.3	+	4	650	c.500C>T	c.(499-501)tCa>tTa	p.S167L		NM_023934	NP_076423	Q9BWH2	FUND2_HUMAN	Homo sapiens FUN14 domain containing 2 (FUNDC2), mRNA.	167						mitochondrion				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGGTGGTGTCATTTGTGAAG	0.383000														73			59		0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60164169	60164170	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:60164169_60164170GG>AA	uc001npj.3	+	0	683_684	c.118_119GG>AA	c.(118-120)gga>AAa	p.G40K	MS4A14_uc001npi.3_Intron|MS4A14_uc001npn.3_5'UTR|MS4A14_uc001npk.3_Missense_Mutation_p.G40K|MS4A14_uc001npl.3_5'UTR|MS4A14_uc001npm.3_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	40						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TTTTCTGAAGGGAGAGCCAAGA	0.441000														12			4		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684294	75684294	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:75684294G>A	uc010oqz.1	-	15	1593	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	SLC44A5_uc001dgt.2_Silent_p.F470F|SLC44A5_uc001dgs.2_Silent_p.F428F|SLC44A5_uc001dgr.2_Silent_p.F428F|SLC44A5_uc001dgu.3_Silent_p.F470F|SLC44A5_uc010ora.2_Silent_p.F464F|SLC44A5_uc010orb.2_Silent_p.F340F	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	470						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ATGCAATGACGAAGTTTATAA	0.418000														74			26		0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217482	150217482	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:150217482G>A	uc003whk.3	+	1	550	c.420G>A	c.(418-420)caG>caA	p.Q140Q	GIMAP7_uc022apu.1_Silent_p.Q140Q	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	140							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGAGGGCCAGAGCTTCCATG	0.502000														25			13		0	0	1	0	0
RNF152	220441	broad.mit.edu	37	18	59483100	59483100	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr18:59483100C>T	uc002lih.1	-	1	1009	c.597G>A	c.(595-597)gtG>gtA	p.V199V	RNF152_uc021ula.1_Silent_p.V199V	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	199					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CACAGGATATCACAGTGAAGC	0.547000														26			34		0	0	1	0	0
GRAMD2	196996	broad.mit.edu	37	15	72455735	72455735	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:72455735C>T	uc002atq.3	-	9	852	c.828G>A	c.(826-828)aaG>aaA	p.K276K	GRAMD2_uc010bis.2_Silent_p.K276K|GRAMD2_uc010ukh.2_Silent_p.K70K	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.	276						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TCGGCATCTTCTTAGGGCAGG	0.557000														50			17		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321563	56321563	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:56321563G>A	uc010ygf.2	-	4	1124	c.413C>T	c.(412-414)tCt>tTt	p.S138F	NLRP11_uc002qlz.3_Missense_Mutation_p.S39F|NLRP11_uc002qmb.3_Missense_Mutation_p.S39F|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	138							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATAGCTGGTAGAATCATAGGC	0.368000														15			8		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126882873	126882873	+	Missense_Mutation	SNP	G	A	A	rs143468706		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:126882873G>A	uc003vlr.2	-	0	697	c.386C>T	c.(385-387)tCg>tTg	p.S129L	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.S129L|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	129					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S129L(2)|p.A128P(1)|p.A128S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTTCACATCCGAAGCATCTTT	0.502000										HNSCC(24;0.065)				29			47		0	0	1	0	0
SCML4	256380	broad.mit.edu	37	6	108067960	108067960	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:108067960G>A	uc010kdf.3	-	3	671	c.420C>T	c.(418-420)gaC>gaT	p.D140D	SCML4_uc003prz.4_Silent_p.D82D|SCML4_uc011eam.1_Silent_p.D140D|SCML4_uc003psa.3_Silent_p.D111D	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	Homo sapiens sex comb on midleg-like 4 (Drosophila) (SCML4), mRNA.	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GGTGGGCGCAGTCGATGCAGG	0.637000														33			22		0	0	1	0	0
RPL13AP3	645683	broad.mit.edu	37	14	56232973	56232973	+	RNA	SNP	T	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr14:56232973T>C	uc010aos.3	+	0		c.11T>C								Homo sapiens ribosomal protein L13a pseudogene 3 (RPL13AP3), non-coding RNA.																		GGCTAAGTAGTTACTGCTGGG	0.582000														1			7		0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49323590	49323590	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:49323590G>A	uc003cwq.2	-	15	2220	c.2141C>T	c.(2140-2142)tCc>tTc	p.S714F	USP4_uc003cwp.2_Missense_Mutation_p.S444F|USP4_uc003cwr.2_Missense_Mutation_p.S667F	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	714					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TGTTCCATAGGAGTTCACAAG	0.458000														34			14		0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81251578	81251578	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr14:81251578G>A	uc001xux.2	-	13	2043	c.1872C>T	c.(1870-1872)gcC>gcT	p.A624A	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	624						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CTTTGTCCTGGGCCTGGCTCT	0.463000														9			44		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69874672	69874672	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:69874672G>A	uc011cao.1	-	6	1204	c.1078C>T	c.(1078-1080)Cac>Tac	p.H360Y	UGT2B10_uc011can.1_Missense_Mutation_p.H276Y			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	404					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GCCTTCATGTGAGCAATGTTA	0.438000														91			34		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143098521	143098521	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:143098521G>A	uc003wcz.3	-	2	415	c.328C>T	c.(328-330)Cct>Tct	p.P110S		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	110						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCTCCCCCAGGGAAACTCTTG	0.617000														108			137		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150773146	150773146	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:150773146G>A	uc004fev.4	+	2	389	c.57G>A	c.(55-57)agG>agA	p.R19R		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	19						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCTCAAAGGAAATTAAACT	0.333000														10			9		0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118771480	118771480	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:118771480G>A	uc001pug.3	-	5	3937	c.2972C>T	c.(2971-2973)tCg>tTg	p.S991L	BCL9L_uc009zal.3_Missense_Mutation_p.S986L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	991	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CCTGCTGGGCGAGCCAGTGGG	0.652000														20			22		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1440092	1440092	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:1440092C>T	uc002qwr.3	+	4	504	c.418C>T	c.(418-420)Cca>Tca	p.P140S	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Missense_Mutation_p.P140S|TPO_uc002qww.3_Missense_Mutation_p.P140S|TPO_uc002qwx.3_Missense_Mutation_p.P140S|TPO_uc002qwu.3_Missense_Mutation_p.P140S|TPO_uc010yio.2_Missense_Mutation_p.P140S|TPO_uc010yip.2_Missense_Mutation_p.P140S	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	140					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CATGCTGCCCCCAAAATGCCC	0.433000														9			27		0	0	1	0	0
ZCCHC13	389874	broad.mit.edu	37	X	73524277	73524277	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:73524277A>G	uc004ebs.4	+	0	253	c.176A>G	c.(175-177)aAc>aGc	p.N59S		NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN	Homo sapiens zinc finger, CCHC domain containing 13 (ZCCHC13), mRNA.	59							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						AATGCTAAGAACTGTGTCCTT	0.517000														32			10		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82451874	82451874	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:82451874C>T	uc003uhx.2	-	19	15017	c.14728G>A	c.(14728-14730)Gaa>Aaa	p.E4910K	PCLO_uc003uhv.2_Missense_Mutation_p.E4910K|PCLO_uc003uht.1_Missense_Mutation_p.E352K|PCLO_uc003uhu.1_Missense_Mutation_p.E331K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4772					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCTGCATCTTCCAGGTGGGTC	0.507000														173			34		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060392	9060392	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:9060392C>T	uc002mkp.3	-	2	27258	c.27054G>A	c.(27052-27054)aaG>aaA	p.K9018K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9020	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						CAGTGCTTGGCTTTGTGGCTG	0.527000														35			24		0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612188	20612188	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr14:20612188C>T	uc010tla.2	+	0	294	c.294C>T	c.(292-294)atC>atT	p.I98I		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I98I(2)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GAAGCTGCATCACTCAGCTCT	0.493000														9			51		0	0	1	0	0
OR56B4	196335	broad.mit.edu	37	11	6129275	6129275	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:6129275C>T	uc010qzx.2	+	0	267	c.267C>T	c.(265-267)gcC>gcT	p.A89A		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATCCTGGCCATCTTCTGGT	0.502000														15			16		0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922621	37922621	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:37922621C>T	uc002hsu.3	-	7	1014	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	IKZF3_uc002htd.3_Missense_Mutation_p.E284K|IKZF3_uc010cwd.3_Missense_Mutation_p.E175K|IKZF3_uc002hsv.3_Missense_Mutation_p.E245K|IKZF3_uc010cwe.3_Missense_Mutation_p.E184K|IKZF3_uc010cwf.3_Missense_Mutation_p.E136K|IKZF3_uc010cwg.3_Missense_Mutation_p.E97K|IKZF3_uc002hsw.3_Missense_Mutation_p.E279K|IKZF3_uc002hsx.3_Missense_Mutation_p.E262K|IKZF3_uc002hsy.3_Missense_Mutation_p.E279K|IKZF3_uc002hsz.3_Missense_Mutation_p.E223K|IKZF3_uc002hta.3_Missense_Mutation_p.E240K|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.E231K|IKZF3_uc002htc.3_Missense_Mutation_p.E71K|IKZF3_uc010wel.2_Missense_Mutation_p.E71K	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	318					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGCAGGGCTTCGGCGCCAAGA	0.532000														47			16		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63064783	63064783	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:63064783G>A	uc009yor.3	+	2	723	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	172						integral to membrane	transmembrane transporter activity	p.G171W(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGTTTGGGCGAAGATTTATT	0.403000														25			21		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2876014	2876014	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:2876014C>T	uc022aqr.1	-	51	8404	c.8014G>A	c.(8014-8016)Gaa>Aaa	p.E2672K	CSMD1_uc011kwj.2_Missense_Mutation_p.E2002K|CSMD1_uc010lrg.3_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2673	Sushi 17.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATCGAGTTTCGCTGCCGCTC	0.458000														107			50		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111789271	111789271	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:111789271C>T	uc010yxk.1	+	14	1573	c.1349C>T	c.(1348-1350)tCc>tTc	p.S450F	ACOXL_uc021vmm.1_Missense_Mutation_p.S303F|ACOXL_uc021vmn.1_Missense_Mutation_p.S273F	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	480					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GCTTCTCTGTCCCTGGCACAC	0.502000														25			22		0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887382	12887382	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:12887382G>A	uc001auk.2	-	2	671	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	159								p.L159M(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ACCATTTTCAGGATGCTTCTG	0.478000														156			51		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41450653	41450653	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr21:41450653C>T	uc002yyq.1	-	25	5124	c.4672G>A	c.(4672-4674)Gag>Aag	p.E1558K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1558	Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCCTGCTTCTCCGCGCAGCCC	0.587000														12			12		0	0	1	0	0
ACAD8	27034	broad.mit.edu	37	11	134131190	134131190	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:134131190C>T	uc001qhk.3	+	7	924	c.863C>T	c.(862-864)gCc>gTc	p.A288V	ACAD8_uc010scp.1_Non-coding_Transcript|ACAD8_uc010scq.2_Missense_Mutation_p.A211V|ACAD8_uc001qhl.3_Missense_Mutation_p.A161V	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 8 (ACAD8), nuclear gene encoding mitochondrial protein, mRNA.	288					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		CTGGGGGCTGCCCACGCCTCT	0.612000														32			15		0	0	1	0	0
PCGF5	84333	broad.mit.edu	37	10	93000322	93000322	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr10:93000322C>T	uc001khi.3	+	2	602	c.194C>T	c.(193-195)cCa>cTa	p.P65L	PCGF5_uc001khh.3_Missense_Mutation_p.P65L|PCGF5_uc010qnk.2_Missense_Mutation_p.P65L	NM_032373	NP_115749	Q86SE9	PCGF5_HUMAN	Homo sapiens polycomb group ring finger 5 (PCGF5), mRNA.	65					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|centrosome	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						GAGACAAATCCATTAGAAATG	0.313000														19			8		0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154920159	154920159	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:154920159G>A	uc001ffr.3	-	7	756	c.697C>T	c.(697-699)Ctc>Ttc	p.L233F	PBXIP1_uc001ffs.3_Missense_Mutation_p.L204F|PBXIP1_uc010pep.2_Missense_Mutation_p.L78F	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	233					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGTCTGGGAGGACCTGCCGC	0.627000														54			35		0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71349823	71349823	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:71349823G>A	uc010nlh.2	-	0	1568	c.1568C>T	c.(1567-1569)tCa>tTa	p.S523L	NHSL2_uc011mqa.2_Intron|RGAG4_uc004eaj.2_Missense_Mutation_p.S523L	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	Homo sapiens retrotransposon gag domain containing 4 (RGAG4), mRNA.	523										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GTAGAATGGTGAATTGGTGCC	0.562000														24			21		0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12595230	12595230	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr10:12595230C>T	uc001ilo.3	+	1	334	c.99C>T	c.(97-99)gcC>gcT	p.A33A	CAMK1D_uc001iln.3_Silent_p.A33A	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	33	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		ACAGCGGGGCCTTTTCCGAAG	0.463000														5			32		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43519324	43519324	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:43519324G>A	uc003tid.1	+	16	3820	c.3215G>A	c.(3214-3216)cGa>cAa	p.R1072Q	HECW1_uc011kbi.1_Missense_Mutation_p.R1038Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1072					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.R1051Q(2)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGAGGCTCCGAAGTTACAGC	0.552000														63			45		0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	400004	400004	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:400004G>A	uc021qbk.1	+	6	1385	c.1356G>A	c.(1354-1356)aaG>aaA	p.K452K	PKP3_uc001lpc.3_Silent_p.K437K	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	437					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCACCTGAAGGACCGCCTGG	0.662000														6			5		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11732302	11732302	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:11732302C>T	uc003jfa.1	-	1	265	c.120G>A	c.(118-120)ggG>ggA	p.G40G	CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	40					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CAGAGCCATCCCCGTTGGAGG	0.507000														26			23		0	0	1	0	0
HRASLS5	117245	broad.mit.edu	37	11	63235895	63235895	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:63235895G>A	uc001nwy.2	-	3	592	c.418C>T	c.(418-420)Cga>Tga	p.R140*	HRASLS5_uc001nwz.2_Nonsense_Mutation_p.R130*|HRASLS5_uc010rmq.1_Nonsense_Mutation_p.R140*|HRASLS5_uc009yos.2_Intron	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	140										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TAGCCAATTCGAAAAATCTCA	0.418000														20			16		0	0	1	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148891409	148891409	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:148891409C>T	uc003lqw.1	-	6	1187	c.707G>A	c.(706-708)gGa>gAa	p.G236E	CSNK1A1_uc011dcb.1_Missense_Mutation_p.G117E|CSNK1A1_uc011dcc.2_Missense_Mutation_p.G147E|CSNK1A1_uc003lqx.1_Missense_Mutation_p.G208E|CSNK1A1_uc003lqy.1_Missense_Mutation_p.G208E|CSNK1A1_uc010jha.1_Missense_Mutation_p.G208E	NM_001025105	NP_001020276	P48729	KC1A_HUMAN	Homo sapiens casein kinase 1, alpha 1 (CSNK1A1), transcript variant 1, mRNA.	208	Protein kinase.				Wnt receptor signaling pathway|cell division|mitosis	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CAAAACATATCCTAATGATTC	0.333000														38			4		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92543137	92543137	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:92543137G>A	uc001pdj.4	+	11	9393	c.9376G>A	c.(9376-9378)Gat>Aat	p.D3126N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3126	Cadherin 28.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGATGTGAATGATAACCCCCC	0.562000										TCGA Ovarian(4;0.039)				13			13		0	0	1	0	0
TCRBV21S1	0	broad.mit.edu	37	7	142223982	142223982	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:142223982G>T	uc003vyi.2	-	1	202	c.185C>A	c.(184-186)cCg>cAg	p.P62Q	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		CAGAAGCTCCGGGCCCTGTCC	0.478000														61			11		9.31168e-06	9.35569e-06	1	1	0
CTNND2	1501	broad.mit.edu	37	5	11732333	11732333	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:11732333G>A	uc003jfa.1	-	1	234	c.89C>T	c.(88-90)tCc>tTc	p.S30F	CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	30					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGGGCTCAGGGAACTCGTCTT	0.507000														30			28		0	0	1	0	0
TEKT3	64518	broad.mit.edu	37	17	15231335	15231335	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:15231335C>T	uc002gon.3	-	3	824	c.637G>A	c.(637-639)Gat>Aat	p.D213N		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	Homo sapiens tektin 3 (TEKT3), mRNA.	213					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.H212Y(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TCAACTTCATCGTGAACTAGG	0.393000														41			16		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38753883	38753883	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:38753883G>A	uc003ciq.3	-	21	3858	c.3858C>T	c.(3856-3858)ctC>ctT	p.L1286L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1286					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGAGGCAGACGAGGAGGACAT	0.552000														30			34		0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95110999	95110999	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr10:95110999C>T	uc001kin.3	-	34	3999	c.3876G>A	c.(3874-3876)atG>atA	p.M1292I	MYOF_uc001kio.3_Missense_Mutation_p.M1279I|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1292					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCTGGGGGACCATGTATAGAT	0.507000														2			24		0	0	1	0	0
ATP5B	506	broad.mit.edu	37	12	57037238	57037238	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:57037238G>A	uc001slr.3	-	4	846	c.741C>T	c.(739-741)taC>taT	p.Y247Y		NM_001686	NP_001677	P06576	ATPB_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide (ATP5B), nuclear gene encoding mitochondrial protein, mRNA.	247					ATP hydrolysis coupled proton transport|angiogenesis|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|MHC class I protein binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCATTTCATGGTATAAATCAT	0.428000														35			40		0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628523	173628523	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:173628523G>A	uc001gja.1	-	1	96	c.35C>T	c.(34-36)tCa>tTa	p.S12L	ANKRD45_uc001gjb.4_Missense_Mutation_p.S12L	NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	28										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						GAAAAATTCTGAACTCTCTGA	0.393000														16			12		0	0	1	0	0
C14orf129	51527	broad.mit.edu	37	14	96848745	96848745	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr14:96848745C>T	uc001yfj.4	+	2	306	c.161C>T	c.(160-162)tCg>tTg	p.S54L	C14orf129_uc001yfl.3_Missense_Mutation_p.S54L|C14orf129_uc021sbk.1_Missense_Mutation_p.S54L	NM_016472	NP_057556	Q9P0R6	GSKIP_HUMAN	Homo sapiens chromosome 14 open reading frame 129 (C14orf129), mRNA.	54						cytoplasm	protein binding			large_intestine(1)|lung(1)|prostate(2)	4		Melanoma(154;0.226)		Epithelial(152;0.109)|COAD - Colon adenocarcinoma(157;0.205)		ATGTTTGTCTCGAAAAGCCTG	0.438000														7			28		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21706454	21706454	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:21706454G>A	uc003cce.3	-	1	497	c.89C>T	c.(88-90)tCg>tTg	p.S30L	ZNF385D_uc010hfb.1_Intron	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	30						nucleus	nucleic acid binding|zinc ion binding	p.P29Q(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AATATCCAGCGATGGTTGCAA	0.517000														22			7		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582551	82582551	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:82582551G>A	uc003uhx.2	-	4	8007	c.7718C>T	c.(7717-7719)tCc>tTc	p.S2573F	PCLO_uc003uhv.2_Missense_Mutation_p.S2573F|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2504					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGGGATTTGGAAAATCTTGG	0.423000														75			42		0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147889180	147889180	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:147889180G>A	uc021yfj.1	-	4	962	c.915C>T	c.(913-915)tcC>tcT	p.S305S	HTR4_uc021yfg.1_Silent_p.S305S|HTR4_uc021yfh.1_Silent_p.S305S|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Silent_p.S305S|HTR4_uc011dby.1_Silent_p.S305S|HTR4_uc003lpn.3_Silent_p.S305S|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Silent_p.S305S	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	305					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GGTTCAACCCGGAATTGATAT	0.488000														0			16		0	0	1	0	0
SPHK2	56848	broad.mit.edu	37	19	49129484	49129485	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:49129484_49129485GG>AA	uc002pjw.3	+	0	1259_1260	c.562_563GG>AA	c.(562-564)ggg>AAg	p.G188K	SPHK2_uc010xzt.2_Missense_Mutation_p.G67K|SPHK2_uc002pjt.3_Intron|SPHK2_uc002pjr.3_Missense_Mutation_p.G126K|SPHK2_uc002pjs.3_Missense_Mutation_p.G126K|SPHK2_uc002pju.3_Missense_Mutation_p.G90K|SPHK2_uc002pjv.3_Missense_Mutation_p.G90K|SPHK2_uc010xzu.1_Missense_Mutation_p.G90K	NM_001204160	NP_001191089	Q9NRA0	SPHK2_HUMAN	Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 4, mRNA.	126	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|Ras GTPase binding|diacylglycerol kinase activity|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		gggccggcgcggggcccggcgc	0.708000														6			14		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706317	96706317	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:96706317G>A	uc010how.1	+	2	637	c.594G>A	c.(592-594)atG>atA	p.M198I	EPHA6_uc003drp.1_Missense_Mutation_p.M198I	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	103	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.V198I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATGTGGAAATGAAATTCACAC	0.403000														22			14		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599806	29599806	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr13:29599806G>A	uc001usl.4	+	0	1059	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	324						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAACAGGAGGGAAAGGCAGCC	0.532000														11			13		0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973502	29973502	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:29973502G>A	uc004dby.2	+	10	2164	c.1656G>A	c.(1654-1656)tgG>tgA	p.W552*		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	552	Interaction with NCS1.|TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CCAAGTTCTGGAAACGTTTAC	0.468000														13			11		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3299467	3299467	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:3299467C>T	uc002cun.1	-	2	1264	c.1224G>A	c.(1222-1224)cgG>cgA	p.R408R	MEFV_uc021tbw.1_Silent_p.R197R|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Intron|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	408			R -> Q (in arFMF; associated with Q-148 and S-369 in cis; could be a polymorphism; dbSNP:rs11466024).		inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TGGGGCGCACCCGGTGGCCTT	0.602000														44			25		0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44488909	44488909	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:44488909G>A	uc003cnf.2	-	7	2602	c.2254C>T	c.(2254-2256)Cct>Tct	p.P752S	ZNF445_uc011azv.1_Missense_Mutation_p.P740S|ZNF445_uc011azw.1_Missense_Mutation_p.P752S	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	752					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CTGCTCTGAGGAACCTGGAAC	0.493000														31			15		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45725604	45725604	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:45725604C>T	uc003tne.4	+	12	2135	c.2117C>T	c.(2116-2118)tCc>tTc	p.S706F		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	706					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CCCAACAGTTCCCTGGTGGTC	0.672000														31			23		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70897032	70897032	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:70897032T>A	uc002ezr.3	-	67	11673	c.11522A>T	c.(11521-11523)gAa>gTa	p.E3841V	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3842										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGAGGTATCTTCTGAGACCCA	0.478000														19			17		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475867	120475867	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr9:120475867C>T	uc004bjz.3	+	2	1752	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	TLR4_uc004bkb.3_Silent_p.F287F|TLR4_uc004bka.3_Silent_p.F447F	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	487					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AGGAAAACTTCCTTCCAGATA	0.448000														4			28		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43895734	43895734	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:43895734C>T	uc001cjk.2	+	28	4274	c.1664C>T	c.(1663-1665)cCc>cTc	p.P555L		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	1454						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCTTCCAATCCCCACTACTTC	0.542000														35			44		0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161580234	161580234	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:161580234G>A	uc010jjc.3	+	10	1766	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	GABRG2_uc003lyy.4_Missense_Mutation_p.E430K|GABRG2_uc003lyz.4_Missense_Mutation_p.E422K|GABRG2_uc011dej.2_Missense_Mutation_p.E327K	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	422					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.E430*(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CTGCTGTTTTGAAGATTGTCG	0.468000														6			32		0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53819603	53819603	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:53819603G>A	uc001scx.2	+	5	832	c.752G>A	c.(751-753)gGc>gAc	p.G251D	AMHR2_uc009zmy.2_Missense_Mutation_p.G251D|AMHR2_uc021qyg.1_Missense_Mutation_p.G251D	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	251	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	p.P250P(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GAACTTCCAGGCCTACAGCAC	0.602000														33			29		0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38229547	38229547	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:38229547G>A	uc001zjw.3	+	4	367	c.265_splice	c.e4-1	p.E89_splice	TMCO5A_uc001zjv.1_Splice_Site_p.E89_splice|TMCO5A_uc010bbc.1_Splice_Site_p.E89_splice	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	89						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						TCTCTCACAGGAAAGGAAGAA	0.438000														21			13		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681847	100681847	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:100681847G>A	uc003uxp.1	+	2	7203	c.7150G>A	c.(7150-7152)Gat>Aat	p.D2384N	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2384	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTGCTGACGATACTAGCAT	0.498000														235			63		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3238772	3238772	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:3238772G>A	uc004crg.4	-	4	5111	c.4954C>T	c.(4954-4956)Cct>Tct	p.P1652S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1652						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCCCCAGAAGGATATGTAGTT	0.453000														100			90		0	0	1	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698178	111698178	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:111698178C>T	uc022cct.1	+	0	222	c.222C>T	c.(220-222)ttC>ttT	p.F74F	ZCCHC16_uc004epo.1_Silent_p.F74F	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	74							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCTCAGAGTTCCTCACTCAGG	0.483000														27			26		0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12691762	12691762	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:12691762G>A	uc002mtz.2	-	4	1256	c.1127C>T	c.(1126-1128)tCc>tTc	p.S376F		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CACTTCACAGGAACTAGATGA	0.403000														28			33		0	0	1	0	0
C1orf141	400757	broad.mit.edu	37	1	67559156	67559156	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:67559156G>A	uc001ddl.1	-	6	846	c.735C>T	c.(733-735)ttC>ttT	p.F245F	C1orf141_uc001ddm.1_Silent_p.F245F|C1orf141_uc001ddn.1_Non-coding_Transcript	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	Homo sapiens chromosome 1 open reading frame 141 (C1orf141), mRNA.	245										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTTCTAAAATGAAATTTGTTC	0.289000														22			6		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90746077	90746077	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr9:90746077C>T	uc011lti.2	-	3	1904	c.1875G>A	c.(1873-1875)agG>agA	p.R625R		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	625																	CACAGGCTTTCCTGCTTTTCG	0.557000														12			86		0	0	1	0	0
GBP2	2634	broad.mit.edu	37	1	89579925	89579925	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:89579925G>A	uc001dmz.1	-	6	1194	c.923C>T	c.(922-924)cCc>cTc	p.P308L	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	308					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CTCCATGCAGGGTAGATCCCC	0.512000														39			14		0	0	1	0	0
OAS1	4938	broad.mit.edu	37	12	113346531	113346531	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:113346531C>T	uc001tuc.3	+	1	477	c.371C>T	c.(370-372)cCa>cTa	p.P124L	OAS1_uc010syn.2_Missense_Mutation_p.P123L|OAS1_uc010syo.2_Missense_Mutation_p.P123L|OAS1_uc001tub.3_Missense_Mutation_p.P124L|OAS1_uc001tud.3_Missense_Mutation_p.P124L|OAS1_uc009zwf.3_Missense_Mutation_p.P123L	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	124	Necessary for binding to dsRNA.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity	p.P124T(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GTCCAGGCTCCACGCTGGGGC	0.577000														4			32		0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202702925	202702925	+	Silent	SNP	G	A	A	rs141812947		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:202702925G>A	uc009xag.3	-	23	3737	c.3621C>T	c.(3619-3621)ctC>ctT	p.L1207L	KDM5B_uc001gyf.3_Silent_p.L1171L|KDM5B_uc001gyg.1_Silent_p.L1013L	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1171					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCACATCTTGGAGAGGCGACA	0.498000														57			27		0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	101024834	101024834	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:101024834C>T	uc002bwa.3	-	6	932	c.361G>A	c.(361-363)Gag>Aag	p.E121K	CERS3_uc002bvz.3_Missense_Mutation_p.E110K|CERS3_uc002bwb.3_Missense_Mutation_p.E110K	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	110						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	p.E110*(1)									ACCTGGCGCTCCGTCAAGTTA	0.483000														8			11		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56086983	56086983	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:56086983C>T	uc001shh.3	-	19	2886	c.2666G>A	c.(2665-2667)gGc>gAc	p.G889D	ITGA7_uc001shg.3_Missense_Mutation_p.G885D|ITGA7_uc010sps.2_Missense_Mutation_p.G792D|ITGA7_uc009znw.3_Missense_Mutation_p.G132D|ITGA7_uc009znx.3_Missense_Mutation_p.G766D	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	929					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCCTGCCCGCCCTCCAGCTC	0.597000														52			42		0	0	1	0	0
BPIFA2	140683	broad.mit.edu	37	20	31760783	31760783	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr20:31760783C>T	uc002wyo.1	+	2	274	c.203C>T	c.(202-204)tCc>tTc	p.S68F		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA.	68						extracellular region	lipid binding										CTTCAGAAATCCAGTGCTTGG	0.473000														26			6		0	0	1	0	0
TBX6	6911	broad.mit.edu	37	16	30099910	30099910	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:30099910A>T	uc010veh.2	-	5	855	c.795T>A	c.(793-795)aaT>aaA	p.N265K	BOLA2_uc010bzb.1_Intron|TBX6_uc002dwk.1_Missense_Mutation_p.N265K	NM_004608	NP_004599	O95947	TBX6_HUMAN	Homo sapiens T-box 6 (TBX6), mRNA.	265					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						TGGCAAAGGGATTGGCTGCAA	0.502000														73			57		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140737205	140737205	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:140737205A>T	uc003ljp.1	+	0	2438	c.2438A>T	c.(2437-2439)aAt>aTt	p.N813I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_5'Flank|PCDHGC5_uc011dar.2_5'Flank	NM_032053	NP_114442	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 2, mRNA.	756					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)			CAATCTTATAATAGATCATAC	0.333000														2			6		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3127320	3127320	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:3127320G>A	uc021xkv.1	+	10	1511	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	456					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGATGACTCTGAATCGAGATC	0.453000														16			26		0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	265490	265490	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:265490C>T	uc021xka.1	-	3	1156	c.1156G>A	c.(1156-1158)Gga>Aga	p.G386R	ZNF732_uc011buu.1_Missense_Mutation_p.G354R	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						GGTTTCTCTCCAGTATGAATA	0.403000														8			9		0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156622586	156622586	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:156622586C>T	uc001fpp.3	+	7	2180	c.1844C>T	c.(1843-1845)tCt>tTt	p.S615F	BCAN_uc001fpo.3_Missense_Mutation_p.S615F	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	615					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAAGATAATTCTGGAAGAACT	0.662000														13			23		0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46915326	46915326	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:46915326G>A	uc002pep.3	-	0	1594	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	248						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TTTCCCAAGCGATCCCCCGGG	0.706000														38			17		0	0	1	0	0
LIPM	340654	broad.mit.edu	37	10	90572917	90572917	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr10:90572917A>G	uc009xtm.1	+	2	496	c.329A>G	c.(328-330)aAc>aGc	p.N110S	LIPM_uc009xtn.1_Missense_Mutation_p.N85S	NM_001128215	NP_001121687	Q5VYY2	LIPM_HUMAN	Homo sapiens lipase, family member M (LIPM), mRNA.	110					lipid catabolic process	extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)|skin(1)	7						TGGATTTCCAACCTGCCCAAC	0.493000														1			11		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3682130	3682130	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr20:3682130G>A	uc002wja.3	-	5	1387	c.1387C>T	c.(1387-1389)Cca>Tca	p.P463S	SIGLEC1_uc002wiz.4_Missense_Mutation_p.P463S	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	463	Ig-like C2-type 4.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTGAAGCGTGGGCTGTGATCA	0.602000														31			21		0	0	1	0	0
SKA1	220134	broad.mit.edu	37	18	47917627	47917627	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr18:47917627C>T	uc002let.3	+	5	767	c.583C>T	c.(583-585)Cac>Tac	p.H195Y	SKA1_uc002leu.3_Missense_Mutation_p.H195Y|SKA1_uc010xdl.2_Missense_Mutation_p.H149Y	NM_145060	NP_659497	Q96BD8	SKA1_HUMAN	Homo sapiens spindle and kinetochore associated complex subunit 1 (SKA1), transcript variant 2, mRNA.	195					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						AAATCTCTATCACAGATTTAT	0.313000														21			13		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101944443	101944443	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr13:101944443G>A	uc001vox.1	-	8	1134	c.945C>T	c.(943-945)aaC>aaT	p.N315N	NALCN_uc001voy.3_Silent_p.N30N|NALCN_uc001voz.2_Silent_p.N315N|NALCN_uc001vpa.2_Silent_p.N315N	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	315						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.N315K(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAATAAACACGTTCTGAAAAA	0.398000														8			12		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82455959	82455959	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:82455959C>T	uc003uhx.2	-	17	14650	c.14361G>A	c.(14359-14361)ctG>ctA	p.L4787L	PCLO_uc003uhv.2_Silent_p.L4787L|PCLO_uc003uht.1_Silent_p.L229L|PCLO_uc003uhu.1_Silent_p.L208L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4649					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGTCACCTCCAGTGTTTTCT	0.353000														28			34		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113277713	113277713	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:113277713C>T	uc003ynu.3	-	59	9774	c.9615G>A	c.(9613-9615)atG>atA	p.M3205I	CSMD3_uc003yns.3_Missense_Mutation_p.M2407I|CSMD3_uc003ynt.3_Missense_Mutation_p.M3165I|CSMD3_uc011lhx.2_Missense_Mutation_p.M3036I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3205	Sushi 24.					integral to membrane|plasma membrane		p.T3204T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATTCAATTCCATCGTGTAGC	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				68			41		0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43527730	43527730	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:43527730C>T	uc001zrd.2	-	9	1659	c.1651G>A	c.(1651-1653)Gat>Aat	p.D551N	TGM5_uc001zrc.2_Missense_Mutation_p.D208N|TGM5_uc001zre.2_Missense_Mutation_p.D469N	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	551					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGGCTGCCATCGTGCAGCAGA	0.537000														22			8		0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108073996	108073996	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:108073996G>A	uc003dwz.3	+	4	867	c.453G>A	c.(451-453)agG>agA	p.R151R	HHLA2_uc011bhl.2_Silent_p.R87R|HHLA2_uc010hpu.3_Silent_p.R151R|HHLA2_uc003dwy.4_Silent_p.R151R	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	151	Ig-like C1-type.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						ATGAAAAGAGGAACACAAACA	0.413000														17			6		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211192334	211192334	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:211192334C>T	uc001hib.2	-	5	993	c.823G>A	c.(823-825)Gga>Aga	p.G275R	KCNH1_uc001hic.2_Missense_Mutation_p.G275R	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	275					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCTGCTGGTCCAACAAAGGTG	0.453000														25			20		0	0	1	0	0
FIGF	2277	broad.mit.edu	37	X	15376147	15376147	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:15376147C>T	uc004cwt.2	-	2	937	c.470G>A	c.(469-471)aGc>aAc	p.S157N	FIGF_uc022bth.1_Non-coding_Transcript	NM_004469	NP_004460	O43915	VEGFD_HUMAN	Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA.	157					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					GTACGAGGTGCTGGTGTTCAT	0.473000														70			43		0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182542525	182542525	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:182542525G>A	uc021vto.1	-	0	1063	c.1063C>T	c.(1063-1065)Cat>Tat	p.H355Y	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.H355Y|NEUROD1_uc021vtn.1_Missense_Mutation_p.H355Y	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	355					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTCTAATCATGAAATATGGCA	0.498000														131			31		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197029607	197029607	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:197029607C>T	uc001gtt.1	-	4	738	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	232	Sushi 4.				blood coagulation	extracellular region		p.E232D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TCTCCTTCTTCATAGGTTTGC	0.294000														12			27		0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6235746	6235746	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:6235746G>A	uc001mck.4	-	10	2853	c.2494C>T	c.(2494-2496)Cca>Tca	p.P832S	FAM160A2_uc001mcl.4_Missense_Mutation_p.P818S	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	818					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCAGTGCTGGGAAGTCCTCC	0.557000														34			28		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43382351	43382351	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:43382351C>T	uc002ovd.1	-	1	282	c.144G>A	c.(142-144)ggG>ggA	p.G48G	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.G48G|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Silent_p.G48G|PSG3_uc002ova.2_Silent_p.G48G|PSG3_uc002ouz.2_Silent_p.G48G|PSG3_uc002ovb.3_Silent_p.G48G	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	48	Ig-like V-type.				defense response|female pregnancy	extracellular region		p.G48W(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GAACATCCTTCCCCTCGGAAA	0.478000														108			43		0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471912	47471912	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:47471912G>A	uc001rpm.3	-	2	1529	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.R292C|AMIGO2_uc001rpl.3_Missense_Mutation_p.R292C|AMIGO2_uc021qxg.1_Missense_Mutation_p.R292C	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	292	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CCAAGCGCACGAAAGGAACCA	0.512000														5			40		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179426007	179426007	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:179426007G>A	uc021vsy.1	-	274	77373	c.77148C>T	c.(77146-77148)atC>atT	p.I25716I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I19411I|TTN_uc021vta.1_Silent_p.I19344I|TTN_uc021vtb.1_Silent_p.I19219I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26643	Ig-like 125.						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)			TGTATCCTGTGATCTTAGCTC	0.393000														36			30		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90745959	90745959	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr9:90745959C>T	uc011lti.2	-	3	2022	c.1993G>A	c.(1993-1995)Gtc>Atc	p.V665I		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	665																	GGCTTGAGGACCCTGAGGGGT	0.552000														14			51		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31313488	31313488	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:31313488G>A	uc003jhe.2	+	7	1677	c.1317G>A	c.(1315-1317)tcG>tcA	p.S439S	CDH6_uc003jhd.2_Silent_p.S439S	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	439	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAAATGGTTCGATTTTTACAT	0.393000														53			35		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169586524	169586524	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:169586524C>T	uc001ggi.4	-	2	288	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	SELP_uc001ggh.3_5'UTR|SELP_uc009wvr.3_Missense_Mutation_p.E75K	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	75	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TAATCAATTTCATTTTTATTC	0.403000														72			51		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140710992	140710992	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:140710992C>T	uc003lji.2	+	0	741	c.741C>T	c.(739-741)taC>taT	p.Y247Y	PCDHGC5_uc011dan.2_Silent_p.Y247Y	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	247	Cadherin 3.				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)			AGGCACAATACCATATAAATG	0.502000														4			21		0	0	1	0	0
HKR1	284459	broad.mit.edu	37	19	37854364	37854364	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:37854364G>A	uc002ogb.3	+	5	1936	c.1667G>A	c.(1666-1668)aGg>aAg	p.R556K	HKR1_uc002ofx.3_Missense_Mutation_p.R272K|HKR1_uc002ofy.3_Missense_Mutation_p.R272K|HKR1_uc002oga.3_Missense_Mutation_p.R538K|HKR1_uc010xto.2_Missense_Mutation_p.R538K|HKR1_uc002ogc.3_Missense_Mutation_p.R537K|HKR1_uc010xtp.2_Missense_Mutation_p.R495K|HKR1_uc002ogd.3_Missense_Mutation_p.R495K	NM_181786	NP_861451	P10072	HKR1_HUMAN	Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.	556					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTATGTGCAGGGAGTGTGGC	0.502000														21			9		0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122625192	122625192	+	Silent	SNP	T	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr10:122625192T>C	uc021pzt.1	+	6	1176	c.930T>C	c.(928-930)ggT>ggC	p.G310G	WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	310						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATGAAAATGGTTGTATAACTT	0.279000														0			11		0	0	1	0	0
TRIP4	9325	broad.mit.edu	37	15	64686287	64686287	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:64686287C>T	uc002anm.3	+	1	304	c.244C>T	c.(244-246)Cct>Tct	p.P82S		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 4 (TRIP4), mRNA.	82					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						GATTTCGGATCCTTTGCAGCA	0.333000														9			12		0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158224882	158224882	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:158224882G>A	uc001frt.3	+	1	600	c.67G>A	c.(67-69)Gag>Aag	p.E23K	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	23					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AGGGCTCAAGGAGCCTCTCTC	0.483000														36			23		0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10680264	10680264	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr18:10680264C>T	uc002kos.2	-	47	7719	c.7545G>A	c.(7543-7545)caG>caA	p.Q2515Q	PIEZO2_uc002koq.3_Silent_p.Q307Q	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2515						integral to membrane	ion channel activity										GTATCATTTTCTGCTTACTGG	0.378000														21			34		0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110465834	110465834	+	Silent	SNP	C	T	T	rs140214194		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:110465834C>T	uc001dyu.2	+	5	1004	c.591C>T	c.(589-591)atC>atT	p.I197I	CSF1_uc001dyt.2_Silent_p.I197I|CSF1_uc021ori.1_Intron|CSF1_uc001dyw.4_Silent_p.I197I|CSF1_uc021orj.1_Intron	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	197					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCAAAGCCATCCCTAGCAGTG	0.587000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			78		0	0	1	0	0
NDRG1	10397	broad.mit.edu	37	8	134256628	134256628	+	Silent	SNP	C	T	T	rs150101908	by1000genomes	TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:134256628C>T	uc003yuh.2	-	13	1447	c.861G>A	c.(859-861)gcG>gcA	p.A287A	NDRG1_uc003yue.1_Silent_p.A2A|NDRG1_uc003yuf.1_Silent_p.A98A|NDRG1_uc003yug.2_Silent_p.A287A|NDRG1_uc010mee.2_Silent_p.A206A|NDRG1_uc010mef.2_Silent_p.A221A|NDRG1_uc011ljh.1_Silent_p.A115A|NDRG1_uc011lji.1_Silent_p.A34A|NDRG1_uc003yui.1_5'Flank	NM_001135242	NP_006087	Q92597	NDRG1_HUMAN	Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA.	287					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CGCCACAGTCCGCCATCTAGG	0.577000			T	ERG	prostate									19			22		0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39162078	39162078	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:39162078G>A	uc003oon.3	-	3	865	c.501C>T	c.(499-501)atC>atT	p.I167I		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	167					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CGCCCCACACGATGAAGATGA	0.557000														59			16		0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75329636	75329636	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr14:75329636C>T	uc021rwo.1	-	0	902	c.902G>A	c.(901-903)gGa>gAa	p.G301E	PROX2_uc001xqp.2_Missense_Mutation_p.G301E|PROX2_uc001xqq.2_Intron	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	301					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TGATAAATTTCCTACTGGGAC	0.557000														6			47		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24358111	24358111	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:24358111G>A	uc002dmf.3	+	1	1470	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	90					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.Y89*(1)		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)		TGCTGACTACGAACAGGACAC	0.562000														46			8		0	0	1	0	0
MRPS22	56945	broad.mit.edu	37	3	139069088	139069088	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:139069088G>A	uc003etb.3	+	3	643	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	MRPS22_uc003etc.3_Non-coding_Transcript	NM_020191	NP_064576	P82650	RT22_HUMAN	Homo sapiens mitochondrial ribosomal protein S22 (MRPS22), nuclear gene encoding mitochondrial protein, mRNA.	191						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						GAACGGGACCGAATGATACAA	0.373000														18			6		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43926706	43926706	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr22:43926706C>T	uc003bdy.2	-	30	4686	c.4372G>A	c.(4372-4374)Gat>Aat	p.D1458N	EFCAB6_uc003bdz.2_Missense_Mutation_p.D1306N|EFCAB6_uc010gzi.2_Missense_Mutation_p.D1306N	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1458	EF-hand 16.|Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.A1457T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GTCCTGAAATCTGCGACGCTT	0.592000														40			31		0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107781836	107781836	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:107781836C>T	uc003ymm.4	-	0	637	c.583G>A	c.(583-585)Ggc>Agc	p.G195S		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	195					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCTCCATAGCCGCTGTCCTCT	0.582000														124			154		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102955420	102955420	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:102955420G>A	uc002tbu.1	+	2	456	c.185G>A	c.(184-186)aGa>aAa	p.R62K	IL1RL1_uc010ywa.2_Intron|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.R62K	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	62	Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ACTCAGGAAAGAAATCGTGTG	0.393000														74			54		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139906958	139906958	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr9:139906958G>A	uc004ckm.1	-	31	5303	c.5253C>T	c.(5251-5253)atC>atT	p.I1751I	ABCA2_uc022bpy.1_Silent_p.I1652I|ABCA2_uc022bpz.1_Silent_p.I1722I|ABCA2_uc011mem.1_Silent_p.I1721I|ABCA2_uc004ckl.1_Silent_p.I1652I|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1721					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGCGCACCGCGATCTTCCGCA	0.682000														6			30		0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88968044	88968044	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:88968044T>A	uc002fmm.2	-	1	461	c.172A>T	c.(172-174)Aag>Tag	p.K58*	CBFA2T3_uc002fml.2_5'UTR|CBFA2T3_uc010cif.1_5'UTR|CBFA2T3_uc002fmn.2_Nonsense_Mutation_p.K58*	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	58	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GCTGAGGCCTTAGCTTTCCTG	0.682000			T	RUNX1	AML									18			26		0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47835926	47835926	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr20:47835926G>A	uc002xuh.3	+	0	95	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	12						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGGAGGCTGCGAAAAGTTAAG	0.607000														15			4		0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5226977	5226977	+	RNA	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr10:5226977G>A	uc009xhz.2	-	0		c.174C>T								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CCACTTACATGATCAGGAGCA	0.517000														0			13		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93979369	93979370	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:93979369_93979370CC>TT	uc003poe.3	-	6	1699_1700	c.1458_1459GG>AA	c.(1456-1461)agggaa>agAAaa	p.E487K	EPHA7_uc003pof.3_Missense_Mutation_p.E487K|EPHA7_uc011eac.2_Missense_Mutation_p.E487K	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	487	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TAGGTCCGTTCCCTTTGATCCT	0.361000														33			10		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155212010	155212010	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:155212010C>T	uc021xge.1	-	15	2343	c.2066G>A	c.(2065-2067)cGa>cAa	p.R689Q	PLCH1_uc021xgd.1_Missense_Mutation_p.R689Q|PLCH1_uc021xgf.1_Missense_Mutation_p.R671Q	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	689	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTGCATCATTCGTCCTTCAGA	0.418000														16			9		0	0	1	0	0
PSMD1	5707	broad.mit.edu	37	2	232010990	232010990	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:232010990C>T	uc002vrn.2	+	17	2197	c.2035C>T	c.(2035-2037)Ccc>Tcc	p.P679S	PSMD1_uc002vrm.2_Missense_Mutation_p.P679S|PSMD1_uc010fxu.2_Missense_Mutation_p.P543S	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA.	679					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GACAAACGACCCCGTGAACTA	0.383000														42			24		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102069922	102069922	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:102069922C>T	uc003pqp.4	+	1	507	c.214C>T	c.(214-216)Ccc>Tcc	p.P72S	GRIK2_uc021zdj.1_Missense_Mutation_p.P72S|GRIK2_uc003pqn.3_Missense_Mutation_p.P72S|GRIK2_uc010kcw.3_Missense_Mutation_p.P72S|GRIK2_uc003pqo.4_Missense_Mutation_p.P72S|GRIK2_uc021zdk.1_Missense_Mutation_p.P72S|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	72					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AACATTGCTACCCAATACTAC	0.363000														13			6		0	0	1	0	0
BTBD1	53339	broad.mit.edu	37	15	83686847	83686847	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:83686847T>C	uc002bjn.3	-	7	1624	c.1421A>G	c.(1420-1422)cAa>cGa	p.Q474R	BTBD1_uc002bjo.3_3'UTR	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	Homo sapiens BTB (POZ) domain containing 1 (BTBD1), transcript variant 1, mRNA.	474						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		TTCTGGAATTTGTCCATCTTC	0.318000														8			17		0	0	1	0	0
ASB4	51666	broad.mit.edu	37	7	95115410	95115410	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:95115410G>A	uc011kij.2	+	0	198	c.127G>A	c.(127-129)Gat>Aat	p.D43N	ASB4_uc003unx.3_Missense_Mutation_p.D43N	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.	43					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			AAGGCAAATAGATGTGGACAC	0.348000														43			35		0	0	1	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32411162	32411162	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:32411162C>T	uc003obh.3	+	2	638	c.529C>T	c.(529-531)Ccc>Tcc	p.P177S	HLA-DRA_uc003obi.3_Missense_Mutation_p.P152S	NM_019111	NP_061984	P01903	DRA_HUMAN	Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.	177	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						CCACTATCTCCCCTTCCTGCC	0.542000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of					21			49		0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31656616	31656616	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr20:31656616G>A	uc002wym.1	+	9	986	c.986G>A	c.(985-987)gGg>gAg	p.G329E		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	329					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										CAGGCCCTGGGGAAGCTGCCC	0.582000														29			11		0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71360099	71360099	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:71360099A>G	uc011mqa.2	+	5	2701	c.2701A>G	c.(2701-2703)Acc>Gcc	p.T901A	NHSL2_uc004eak.1_Missense_Mutation_p.T535A|NHSL2_uc010nli.2_Missense_Mutation_p.T670A	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	901										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					AACTTCACCAACCTTGGCTAT	0.567000														36			17		0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602845	5602845	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:5602845C>T	uc010qzi.2	+	0	739	c.739C>T	c.(739-741)Ctc>Ttc	p.L247F	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTCTTCCGCCTCCTTTCTCA	0.502000														42			25		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126319984	126319984	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:126319984C>T	uc003ifj.4	+	1	5221	c.5221C>T	c.(5221-5223)Cca>Tca	p.P1741S	FAT4_uc011cgp.2_Missense_Mutation_p.P39S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1741	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACCAGTATTTCCAACGGACAT	0.443000														42			45		0	0	1	0	0
ZNF223	7766	broad.mit.edu	37	19	44570657	44570657	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:44570657C>T	uc002oyf.1	+	4	929	c.676C>T	c.(676-678)Cat>Tat	p.H226Y	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	Homo sapiens zinc finger protein 223 (ZNF223), mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TCAGAGAGTCCATACTGGAGA	0.418000														34			48		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195491986	195491986	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:195491986C>T	uc021xjp.1	-	9	13962	c.13806G>A	c.(13804-13806)tgG>tgA	p.W4602*	MUC4_uc003fuz.3_Nonsense_Mutation_p.W200*|MUC4_uc003fva.3_Nonsense_Mutation_p.W82*|MUC4_uc003fvb.3_Nonsense_Mutation_p.W118*|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Nonsense_Mutation_p.W118*|MUC4_uc010hzr.3_Intron|MUC4_uc021xjm.1_Nonsense_Mutation_p.W111*|MUC4_uc021xjn.1_Nonsense_Mutation_p.W291*|MUC4_uc021xjo.1_Nonsense_Mutation_p.W82*|MUC4_uc021xjg.1_Nonsense_Mutation_p.W82*|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Nonsense_Mutation_p.W166*|MUC4_uc021xjj.1_Nonsense_Mutation_p.W166*|MUC4_uc021xjk.1_Nonsense_Mutation_p.W343*|MUC4_uc021xjl.1_Nonsense_Mutation_p.W82*|MUC4_uc003fvo.3_Nonsense_Mutation_p.W366*|MUC4_uc003fvp.3_Nonsense_Mutation_p.W315*	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1359					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGCCGAGGCCCCAGCGACCTG	0.667000														11			12		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167020663	167020663	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:167020663G>A	uc003irh.2	+	19	3538	c.2891G>A	c.(2890-2892)cGa>cAa	p.R964Q	TLL1_uc011cjn.2_Missense_Mutation_p.R987Q|TLL1_uc011cjo.2_Missense_Mutation_p.R788Q	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	964	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R964P(2)|p.R964R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGGCTTGGTCGATTCTGTGGA	0.423000														60			45		0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123332192	123332192	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:123332192C>T	uc003pzi.1	+	2	1321	c.452C>T	c.(451-453)cCt>cTt	p.P151L		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	151	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ATTGAAGATCCTGAGCTTCAA	0.403000														30			19		0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56911988	56911988	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:56911988C>T	uc003xsk.4	+	11	1498	c.1216C>T	c.(1216-1218)Cct>Tct	p.P406S	LYN_uc003xsl.4_Missense_Mutation_p.P385S	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	406	Protein kinase.				T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TGCTAAGTTCCCTATTAAGTG	0.373000														52			7		0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64138933	64138933	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:64138933C>T	uc003dmf.3	-	5	1298	c.712G>A	c.(712-714)Gag>Aag	p.E238K		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	238	LIM zinc-binding 2.					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)		GGTCTTCCCTCCTTCATGATG	0.512000														44			59		0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171379852	171379852	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:171379852C>T	uc003fhs.3	-	19	2685	c.2338G>A	c.(2338-2340)Gaa>Aaa	p.E780K	PLD1_uc003fht.3_Missense_Mutation_p.E742K|PLD1_uc003fhu.4_Missense_Mutation_p.E74K|PLD1_uc003fhv.1_Missense_Mutation_p.E105K	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	780	Catalytic.				Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGACTTACTTCGATATAGATA	0.438000														8			5		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958831	50958831	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:50958831G>A	uc002psf.2	+	19	2319	c.2268G>A	c.(2266-2268)aaG>aaA	p.K756K		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	756	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCACACTCAAGTGGAGGCCTC	0.592000														41			23		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133152366	133152366	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:133152366C>T	uc003ytj.3	-	10	1750	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	KCNQ3_uc003yti.3_Missense_Mutation_p.E389K|KCNQ3_uc010mdt.3_Missense_Mutation_p.E509K	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	509					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATCATGTCTTCGATGGGGAAG	0.627000														46			27		0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149806890	149806890	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:149806890G>A	uc010zbu.2	+	9	1277	c.882G>A	c.(880-882)ggG>ggA	p.G294G	KIF5C_uc002tws.1_Non-coding_Transcript	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	294	Kinesin-motor.|Microtubule-binding.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CTTTGGGTGGGAACTGCAGAA	0.473000														20			22		0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70472696	70472696	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:70472696G>A	uc004dzh.2	-	1	589	c.410C>T	c.(409-411)cCt>cTt	p.P137L	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.P137L|ZMYM3_uc004dzj.2_Missense_Mutation_p.P137L|ZMYM3_uc011mpu.2_5'Flank|ZMYM3_uc004dzl.4_Missense_Mutation_p.P137L	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	137					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TAGCCCCTCAGGTGAACAGGA	0.567000														8			11		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141762434	141762434	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:141762434G>A	uc003vwy.3	+	34	4243	c.4189G>A	c.(4189-4191)Gaa>Aaa	p.E1397K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1397	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGGAAGAGGGAAATAGAAGA	0.408000														6			8		0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131624167	131624167	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:131624167G>A	uc011blq.2	-	1	285	c.175C>T	c.(175-177)Ctt>Ttt	p.L59F	CPNE4_uc003eok.3_Missense_Mutation_p.L41F|CPNE4_uc003eol.3_Missense_Mutation_p.L59F|CPNE4_uc003eom.3_Missense_Mutation_p.L41F	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	41	C2 1.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GGTTTGGAAAGGGCATCTCTG	0.517000														27			21		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76657030	76657031	+	Splice_Site	DNP	CC	TT	TT			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:76657030_76657031CC>TT	uc003pik.1	-	14	2174	c.2044_splice	c.e14+1	p.A682_splice		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	682	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GATTCTTTTACCTGGTTCAATG	0.421000														10			6		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	54025387	54025387	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:54025387C>T	uc011dxa.2	+	6	2462	c.2429C>T	c.(2428-2430)tCc>tTc	p.S810F	MLIP_uc003pcf.2_Missense_Mutation_p.S799F|MLIP_uc003pcg.4_Missense_Mutation_p.S275F|MLIP_uc003pch.4_Intron	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	275						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TTACAGGATTCCTTGTCTATG	0.418000														7			6		0	0	1	0	0
NAGA	4668	broad.mit.edu	37	22	42463799	42463799	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr22:42463799G>A	uc003bbw.4	-	2	839	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_000262	NP_000253	P17050	NAGAB_HUMAN	Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.	98					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						TGCCATGAGGGAAGCGCTTGG	0.607000														51			30		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138330043	138330043	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:138330043C>T	uc002tva.1	+	15	3250	c.3250C>T	c.(3250-3252)Ccc>Tcc	p.P1084S	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGATGAAATTCCCCCAGAAAC	0.453000														13			12		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701340	56701340	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:56701340G>A	uc010ygh.2	-	3	1344	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	448					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CCTTGTGGCTGAAAACTTTGC	0.552000														22			8		0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242264024	242264025	+	Missense_Mutation	DNP	AG	TT	TT			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:242264024_242264025AG>TT	uc001hzn.2	-	9	1526_1527	c.1299_1300CT>AA	c.(1297-1302)accttt>acAAtt	p.F434I	PLD5_uc021pll.1_Missense_Mutation_p.F342I|PLD5_uc001hzl.4_Missense_Mutation_p.F372I|PLD5_uc001hzm.4_Missense_Mutation_p.F226I|PLD5_uc001hzo.2_Missense_Mutation_p.F342I	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	434	PLD phosphodiesterase 2.					integral to membrane	catalytic activity	p.D434Y(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AACCTAGGAAAGGTGTGATTCT	0.431000														42			24		0	0	1	0	0
C15orf43	145645	broad.mit.edu	37	15	45250611	45250611	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:45250611G>A	uc001zuk.3	+	2	201	c.187G>A	c.(187-189)Gtt>Att	p.V63I		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	Homo sapiens chromosome 15 open reading frame 43 (C15orf43), mRNA.	63										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		TAATGCTACAGTTTTTCATGC	0.363000														14			28		0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133473407	133473407	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:133473407C>T	uc003epu.2	+	8	2122	c.394C>T	c.(394-396)Cga>Tga	p.R132*	TF_uc011bls.1_Nonsense_Mutation_p.R132*|TF_uc011blt.2_Nonsense_Mutation_p.R5*|TF_uc003epw.2_Intron|TF_uc003epv.2_Nonsense_Mutation_p.R132*	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	132	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	p.R132Q(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GAACCAGCTTCGAGGCAAGAA	0.517000														105			42		0	0	1	0	0
PRHOXNB	646625	broad.mit.edu	37	13	28562733	28562733	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr13:28562733G>A	uc010aan.1	-	0	42	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001105577	NP_001099047	A6NGE7	URAD_HUMAN	Homo sapiens parahox cluster neighbor (PRHOXNB), mRNA.	14					allantoin biosynthetic process|purine base metabolic process	peroxisome	carboxy-lyase activity			large_intestine(1)|lung(1)|stomach(1)	3	all_cancers(110;0.12)|all_hematologic(3;0.0119)|Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		ACACATCCACGAATTCTCCAA	0.512000														33			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179516831	179516831	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:179516831G>A	uc021vsy.1	-	157	32210	c.31985C>T	c.(31984-31986)cCc>cTc	p.P10662L	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11589	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTCAGGGGGAGGACTTTC	0.343000														55			16		0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22884668	22884668	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:22884668G>A	uc003xcu.2	-	6	1207	c.914C>T	c.(913-915)cCc>cTc	p.P305L	TNFRSF10B_uc003xcs.1_Missense_Mutation_p.P70L|TNFRSF10B_uc011kzq.1_Missense_Mutation_p.P125L|TNFRSF10B_uc003xcv.2_Missense_Mutation_p.P203L|TNFRSF10B_uc003xct.2_Missense_Mutation_p.P276L	NM_003842	NP_003833	O14763	TR10B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10b (TNFRSF10B), transcript variant 1, mRNA.	305					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	TRAIL binding|caspase activator activity|receptor activity			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TGACTCCCCGGGGGACAACAT	0.562000														21			18		0	0	1	0	0
H2AFB3	83740	broad.mit.edu	37	X	154113378	154113378	+	Silent	SNP	G	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:154113378G>T	uc004fmu.3	+	0	62	c.54G>T	c.(52-54)cgG>cgT	p.R18R	F8_uc004fmt.3_Intron|F8_uc004fms.3_Intron|F8A3_uc004fmv.3_5'Flank	NM_080720	NP_001017990	P0C5Z0	H2AB2_HUMAN	Homo sapiens H2A histone family, member B3 (H2AFB3), mRNA.	18					nucleosome assembly	nucleosome|nucleus	DNA binding					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)					GCCGGGGGCGGACCTGCTCTC	0.672000														39			8		0.000219431	0.000219638	1	1	0
VCPIP1	80124	broad.mit.edu	37	8	67547092	67547092	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:67547092G>A	uc003xwn.3	-	2	3572	c.3313C>T	c.(3313-3315)Cag>Tag	p.Q1105*		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.	1105					protein ubiquitination	Golgi stack|endoplasmic reticulum	ubiquitin-specific protease activity	p.Q1105Q(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTTTTTCGCTGGGCCTCAACC	0.448000														39			52		0	0	1	0	0
PMS2P3	5387	broad.mit.edu	37	7	75145510	75145510	+	RNA	SNP	T	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:75145510T>G	uc022agi.1	-	2		c.655A>C			PMS2P3_uc003udq.3_Non-coding_Transcript|PMS2P3_uc022agj.1_Non-coding_Transcript					Homo sapiens postmeiotic segregation increased 2 pseudogene 3 (PMS2P3), non-coding RNA.											lung(1)	1						TCCTCCTGGGTGAAATCCACA	0.478000														27			17		0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6026709	6026709	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:6026709G>A	uc003spl.3	-	10	1774	c.1687C>T	c.(1687-1689)Cga>Tga	p.R563*	PMS2_uc003spj.3_Nonsense_Mutation_p.R457*|PMS2_uc003spk.3_Nonsense_Mutation_p.R428*|PMS2_uc011jwl.2_Nonsense_Mutation_p.R428*|PMS2_uc010ktg.3_Nonsense_Mutation_p.R252*|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Intron	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	563					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	p.R563*(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GGCAAAACTCGAAATTTACAT	0.408000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					95			67		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55638936	55638936	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:55638936C>T	uc003pcq.3	-	3	1650	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	BMP5_uc011dxf.2_Missense_Mutation_p.R313Q	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	313					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R313*(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCTCACGGATCGAAGAAGTAC	0.453000														20			21		0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1343462	1343462	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:1343462C>T	uc003gde.4	+	2	696	c.249C>T	c.(247-249)ttC>ttT	p.F83F		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	Homo sapiens KIAA1530 (KIAA1530), mRNA.	83																	TTTCCAACTTCCAGGAGTTCC	0.647000														24			16		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958778	50958778	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:50958778G>A	uc002psf.2	+	19	2266	c.2215G>A	c.(2215-2217)Gaa>Aaa	p.E739K		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	739	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ACCCACGAGTGAACCCCTGCA	0.572000														36			45		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459649	142459649	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:142459649G>A	uc003wak.2	+	2	242	c.225G>A	c.(223-225)gaG>gaA	p.E75E	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.E15E	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	75	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GACTGGGAGAGCACAACATCG	0.562000														155			33		0	0	1	0	0
RAB1A	5861	broad.mit.edu	37	2	65316200	65316200	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:65316200G>A	uc002sdm.3	-	4	679	c.293C>T	c.(292-294)tCc>tTc	p.S98F	RAB1A_uc002sdn.3_Intron|RAB1A_uc010yqe.2_Missense_Mutation_p.S66F|RAB1A_uc002sdo.3_Missense_Mutation_p.S34F	NM_004161	NP_004152	P62820	RAB1A_HUMAN	Homo sapiens RAB1A, member RAS oncogene family (RAB1A), transcript variant 1, mRNA.	98					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|endoplasmic reticulum	GTP binding|GTPase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)	6						ATTATTGAAGGACTCCTAAAA	0.348000														7			4		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175328826	175328826	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:175328826G>A	uc001gkp.1	-	12	2977	c.2896C>T	c.(2896-2898)Cca>Tca	p.P966S	TNR_uc009wwu.1_Missense_Mutation_p.P966S	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	966	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCTTCTGTTGGAGTGATATTG	0.498000														32			18		0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47769279	47769279	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr18:47769279G>A	uc002lee.2	-	5	1295	c.1204C>T	c.(1204-1206)Caa>Taa	p.Q402*		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	402										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CACTTTTCTTGAACTTGAAGT	0.363000														76			33		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13901535	13901535	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:13901535C>T	uc003jfd.2	-	13	1920	c.1878G>A	c.(1876-1878)aaG>aaA	p.K626K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	626	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCACAAAATCTTTCCAGCGA	0.498000									Kartagener syndrome					16			12		0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31457548	31457548	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:31457548G>A	uc002rnu.3	+	0	669	c.61G>A	c.(61-63)Gtg>Atg	p.V21M	EHD3_uc010ymt.2_Missense_Mutation_p.V21M	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	21					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TTTCCAGACGGTGAGTGAGGG	0.652000														47			28		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80382693	80382693	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:80382693G>A	uc003kha.2	+	8	1361	c.1311G>A	c.(1309-1311)agG>agA	p.R437R	RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Silent_p.R265R	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	437					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AAAACATAAGGAAAAACCTTG	0.473000														17			18		0	0	1	0	0
ZNF766	90321	broad.mit.edu	37	19	52785399	52785399	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:52785399C>T	uc002pyt.1	+	2	476	c.99C>T	c.(97-99)ttC>ttT	p.F33F	ZNF766_uc002pyr.1_Silent_p.F18F|ZNF766_uc002pys.1_Silent_p.F18F	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	Homo sapiens zinc finger protein 766 (ZNF766), mRNA.	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		CCATAGAATTCTCTCAGGAGG	0.453000														109			41		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841723	94841723	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:94841723T>C	uc002btj.3	+	0	294	c.229T>C	c.(229-231)Tcg>Ccg	p.S77P	MCTP2_uc010urg.1_Missense_Mutation_p.S77P|MCTP2_uc002bti.2_Missense_Mutation_p.S77P|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Missense_Mutation_p.S77P|MCTP2_uc002btg.4_Missense_Mutation_p.S77P|MCTP2_uc002bth.4_Missense_Mutation_p.S77P	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	77					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.S77L(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTCCTACACCTCGGTGCCCAG	0.592000														36			12		0	0	1	0	0
GBP1P1	400759	broad.mit.edu	37	1	89889902	89889902	+	RNA	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:89889902G>A	uc009wcy.1	+	4		c.643G>A								Homo sapiens guanylate binding protein 1, interferon-inducible pseudogene 1 (GBP1P1), non-coding RNA.																		TGATGGAACAGAAGGAGAGGA	0.473000														309			91		0	0	1	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72338404	72338404	+	RNA	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:72338404G>A	uc010lal.1	-	0		c.1252C>T								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		GAAGTCTCAGGATTGTGGCCG	0.577000														45			7		0	0	1	0	0
VPS35	55737	broad.mit.edu	37	16	46706386	46706386	+	Splice_Site	SNP	T	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:46706386T>A	uc002eef.4	-	11	1260	c.1161_splice	c.e11-1	p.H387_splice	VPS35_uc002eed.3_Splice_Site_p.H208_splice|VPS35_uc002eee.3_Splice_Site_p.H348_splice	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA.	387					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GTAGCAATACTACAAAAAGAA	0.269000														22			19		0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115395159	115395159	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:115395159G>A	uc003ebr.2	+	2	1112	c.438G>A	c.(436-438)gaG>gaA	p.E146E	GAP43_uc003ebq.2_Silent_p.E110E	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA.	110					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CTCCTTCCGAGGAGAAGAAGG	0.622000														21			5		0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72937999	72937999	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:72937999C>T	uc010wrr.2	+	2	494	c.494C>T	c.(493-495)tCc>tTc	p.S165F	OTOP3_uc010wrq.2_Missense_Mutation_p.S147F	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	165						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CGGCCAGGTTCCCTAGTGCTC	0.647000														15			6		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175063237	175063237	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:175063237C>T	uc001gkl.1	+	6	1549	c.1436C>T	c.(1435-1437)tCt>tTt	p.S479F	TNN_uc010pmx.1_Missense_Mutation_p.S479F	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	479	Fibronectin type-III 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGCTACACTTCTGCTGATGGG	0.537000														22			12		0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13192546	13192546	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:13192546C>T	uc010xmx.2	+	7	1208	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	NFIX_uc002mwd.3_Silent_p.I377I|NFIX_uc002mwe.3_Silent_p.I369I|NFIX_uc002mwf.3_Silent_p.I339I|NFIX_uc002mwg.2_Silent_p.I376I			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	377					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CGTCCATCATCCAGCAGTCGA	0.622000														41			17		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154157625	154157625	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:154157625G>A	uc004fmt.3	-	13	4611	c.4440C>T	c.(4438-4440)tcC>tcT	p.S1480S		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1480	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)	TTGTCCCCAGGGAGCCAACCT	0.428000														48			21		0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52946636	52946636	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:52946636C>T	uc001sao.3	-	0	296	c.226G>A	c.(226-228)Gcc>Acc	p.A76T		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	76	Gly-rich.|Head.						structural molecule activity	p.R75Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		AAGCCACTGGCCCGGCCCCGG	0.632000														146			4		0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	48036238	48036238	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:48036238G>A	uc011dwm.2	-	0	188	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L	PTCHD4_uc011dwn.2_Intron|PTCHD4_uc003ozf.2_Silent_p.L52L	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	52						integral to membrane	hedgehog receptor activity										GTGATTGTCAGGACTGCGGGC	0.672000														13			4		0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863590	55863590	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:55863590G>A	uc010spn.2	-	0	333	c.333C>T	c.(331-333)ttC>ttT	p.F111F		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						CAGCTAGAAGGAAAAATTCTG	0.388000														25			15		0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79177318	79177318	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:79177318G>A	uc002jzp.1	-	5	805	c.605C>T	c.(604-606)tCc>tTc	p.S202F	AZI1_uc002jzn.1_Missense_Mutation_p.S202F|AZI1_uc002jzo.1_Missense_Mutation_p.S202F|AZI1_uc010wum.1_Missense_Mutation_p.S202F	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	202					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGTCTGGTTGGAGCTCTTGAG	0.657000														5			3		0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133475789	133475789	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:133475789C>T	uc003epu.2	+	11	2534	c.806C>T	c.(805-807)aCc>aTc	p.T269I	TF_uc011blt.2_Missense_Mutation_p.T142I|TF_uc003epw.2_Intron|TF_uc003epv.2_Missense_Mutation_p.T269I	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	269	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CCTTCTCATACCGTCGTGGCC	0.587000														46			12		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248715	20248715	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr14:20248715C>T	uc010tku.2	+	0	234	c.234C>T	c.(232-234)gcC>gcT	p.A78A		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCATTACAGCCCCTAAAATGC	0.443000														100			82		0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25718510	25718510	+	Silent	SNP	C	T	T	rs143372707		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:25718510C>T	uc001bkf.3	-	3	695	c.609G>A	c.(607-609)acG>acA	p.T203T	RHCE_uc001bkg.3_Silent_p.T203T|RHCE_uc001bkh.3_Intron|RHCE_uc001bki.3_Intron|RHCE_uc001bkj.3_Silent_p.T187T	NM_020485	NP_065231	P18577	RHCE_HUMAN	Homo sapiens Rh blood group, CcEe antigens (RHCE), transcript variant 1, mRNA.	203						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AACTGGGTATCGTTGCTCTCT	0.532000														24			73		0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124597028	124597028	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr10:124597028G>A	uc001lgs.3	-	5	1442	c.491C>T	c.(490-492)tCc>tTc	p.S164F	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_Missense_Mutation_p.S164F	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	164	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)		GCTGGTGAAGGATCCTTCCAA	0.418000														4			22		0	0	1	0	0
LETM1	3954	broad.mit.edu	37	4	1817424	1817424	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:1817424C>T	uc003gdv.3	-	12	2334	c.2037G>A	c.(2035-2037)aaG>aaA	p.K679K		NM_012318	NP_036450	O95202	LETM1_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.	679	EF-hand.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CCTTGCCATCCTTGTTTTCAT	0.607000														47			5		0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79313546	79313546	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:79313546C>T	uc002sny.2	-	3	380	c.268G>A	c.(268-270)Gag>Aag	p.E90K	REG1B_uc010ffv.1_Missense_Mutation_p.E90K|REG1B_uc010ffw.3_3'UTR	NM_006507	NP_006498	P48304	REG1B_HUMAN	Homo sapiens regenerating islet-derived 1 beta (REG1B), mRNA.	90	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GTGCTACTCTCCTTAATCAGT	0.488000														11			25		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28986101	28986101	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr18:28986101C>T	uc002kwr.2	+	11	1833	c.1698C>T	c.(1696-1698)atC>atT	p.I566I	DSG4_uc002kwq.2_Silent_p.I566I	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	566					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AAATCCCAATCCTGGTGAAGG	0.433000														25			8		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173506150	173506150	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:173506150C>T	uc001giz.2	-	13	2009	c.1586G>A	c.(1585-1587)gGa>gAa	p.G529E	SLC9C2_uc009wwe.2_Missense_Mutation_p.G87E|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	529					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TTCAAGAATTCCATTGTTACG	0.313000														40			42		0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272265	52272265	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:52272265C>T	uc002pxr.3	+	1	399	c.354C>T	c.(352-354)ttC>ttT	p.F118F	FPR2_uc002pxs.4_Silent_p.F118F|FPR2_uc010epf.3_Silent_p.F118F|FPR2_uc021uyp.1_Silent_p.F118F	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	118					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGATTGGTTTCATTGCACTGG	0.507000														24			33		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048215	9048215	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:9048215G>A	uc002mkp.3	-	4	33620	c.33416C>T	c.(33415-33417)tCa>tTa	p.S11139L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11141	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S11139*(1)|p.S6772*(1)		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						TAGAACAGCTGAGCTGGCTTC	0.468000														29			23		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117180229	117180229	+	Silent	SNP	C	T	T	rs75528968		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:117180229C>T	uc003vjd.3	+	7	1077	c.945C>T	c.(943-945)ttC>ttT	p.F315F	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	315	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCTCAGGGTTCTTTGTGGTGT	0.398000									Cystic Fibrosis					47			21		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83636071	83636071	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:83636071C>T	uc010vns.2	+	8	1378	c.1114C>T	c.(1114-1116)Ccc>Tcc	p.P372S	CDH13_uc002fgx.3_Missense_Mutation_p.P325S|CDH13_uc010vnt.2_Missense_Mutation_p.P71S|CDH13_uc010vnu.2_Missense_Mutation_p.P286S	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	325	Cadherin 3.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TCTGGAAAATCCCAAGTATGA	0.448000														117			60		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189873782	189873782	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:189873782T>A	uc002uqj.1	+	47	3775	c.3658T>A	c.(3658-3660)Tat>Aat	p.Y1220N		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1220					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGCCCCGTATTATGGAGATGA	0.488000														57			37		0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16535919	16535920	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:16535919_16535920GG>AA	uc002ndx.3	-	8	772_773	c.766_767CC>TT	c.(766-768)ccc>TTc	p.P256F	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Missense_Mutation_p.P146F|EPS15L1_uc002ndz.1_Missense_Mutation_p.P256F|EPS15L1_uc010xpf.1_Missense_Mutation_p.P159F|EPS15L1_uc002nea.1_Missense_Mutation_p.P256F|EPS15L1_uc010eah.1_Missense_Mutation_p.P256F|EPS15L1_uc002neb.1_Missense_Mutation_p.P102F|EPS15L1_uc002nec.1_Missense_Mutation_p.P256F	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	256					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GCTGTGCTTGGGGGACAGGCTC	0.634000														37			22		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2706446	2706446	+	Silent	SNP	T	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:2706446T>C	uc009zdu.1	+	20	3157	c.2844T>C	c.(2842-2844)atT>atC	p.I948I	CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qjz.2_Silent_p.I948I|CACNA1C_uc001qkd.2_Silent_p.I948I|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc009zdw.1_Silent_p.I948I|CACNA1C_uc001qkg.2_Silent_p.I948I|CACNA1C_uc001qkh.2_Silent_p.I948I|CACNA1C_uc001qkl.2_Silent_p.I948I|CACNA1C_uc001qkj.2_Silent_p.I948I|CACNA1C_uc001qkk.2_Silent_p.I948I|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qkm.2_Silent_p.I948I|CACNA1C_uc001qko.2_Silent_p.I948I|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkq.2_Silent_p.I948I|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qks.2_Silent_p.I948I|CACNA1C_uc001qkt.2_Silent_p.I948I|CACNA1C_uc009zdv.1_Silent_p.I945I|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Silent_p.I684I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	948					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCATTGAAATTGCTCTGAAGG	0.483000														79			64		0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13923946	13923946	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:13923946C>T	uc002mxh.1	+	5	1337	c.1148C>T	c.(1147-1149)cCc>cTc	p.P383L	ZSWIM4_uc010xng.1_Missense_Mutation_p.P189L	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	383							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TTCGACGGCCCCAGCCTGCAG	0.612000														9			19		0	0	1	0	0
WBP5	51186	broad.mit.edu	37	X	102612855	102612855	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:102612855G>A	uc022cbr.1	+	0	243	c.243G>A	c.(241-243)agG>agA	p.R81R	WBP5_uc004eke.3_Silent_p.R81R|WBP5_uc004ekd.3_Silent_p.R81R|WBP5_uc004ekf.3_Silent_p.R81R|WBP5_uc004ekg.3_Silent_p.R81R	NM_016303	NP_057387	Q9UHQ7	WPB5_HUMAN	Homo sapiens WW domain binding protein 5 (WBP5), transcript variant 1, mRNA.	81										breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1)	8						ATGAGATAAGGAGAGTCAGAA	0.343000														29			23		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093396	30093396	+	RNA	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr18:30093396C>T	uc010dmc.3	+	0		c.1771C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		CTGGGCTTTTCCCACCAGCTC	0.502000														26			30		0	0	1	0	0
C16orf89	146556	broad.mit.edu	37	16	5115824	5115824	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:5115824G>A	uc010bud.3	-	0	323	c.86C>T	c.(85-87)gCt>gTt	p.A29V	ALG1_uc002cyj.3_Intron|C16orf89_uc002cyk.4_Missense_Mutation_p.A29V	NM_152459	NP_689672	Q6UX73	CP089_HUMAN	Homo sapiens chromosome 16 open reading frame 89 (C16orf89), transcript variant 1, mRNA.	29						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						TTTACTTTCAGCAGTGTCCAG	0.602000														24			15		0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48601490	48601490	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:48601490C>T	uc010xzd.2	-	5	841	c.504G>A	c.(502-504)atG>atA	p.M168I	PLA2G4C_uc002phw.3_Missense_Mutation_p.M93I|PLA2G4C_uc010elr.3_Missense_Mutation_p.M158I|PLA2G4C_uc002phx.3_Missense_Mutation_p.M158I|PLA2G4C_uc002phy.4_Missense_Mutation_p.M158I	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	158	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CGGGCTTCTTCATATTGGACA	0.552000														18			29		0	0	1	0	0
ZNF793	390927	broad.mit.edu	37	19	38028070	38028070	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:38028070G>A	uc010efm.3	+	7	952	c.510G>A	c.(508-510)ggG>ggA	p.G170G	ZNF793_uc010xts.2_Silent_p.G170G	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	Homo sapiens zinc finger protein 793 (ZNF793), mRNA.	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGCTTATGGGAAATTGCTTC	0.418000														7			8		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31855576	31855576	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:31855576G>A	uc003tcm.2	-	14	2236	c.1775C>T	c.(1774-1776)tCc>tTc	p.S592F	PDE1C_uc003tcn.1_Missense_Mutation_p.S592F|PDE1C_uc003tco.2_Missense_Mutation_p.S652F|PDE1C_uc003tcr.3_Missense_Mutation_p.S592F|PDE1C_uc003tcs.3_Missense_Mutation_p.S592F	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	592					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTCGGCTTTGGAGTTTTTCCC	0.453000														83			73		0	0	1	0	0
WDR75	84128	broad.mit.edu	37	2	190332266	190332266	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:190332266C>T	uc002uql.1	+	13	1580	c.1520C>T	c.(1519-1521)tCc>tTc	p.S507F	WDR75_uc002uqm.1_Missense_Mutation_p.S443F|WDR75_uc002uqn.1_Missense_Mutation_p.S285F	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	507						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TGTTGTTTCTCCGAAGATGGT	0.388000														54			42		0	0	1	0	0
PDZK1	5174	broad.mit.edu	37	1	145762276	145762276	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:145762276A>T	uc001eon.2	+	8	1610	c.1453A>T	c.(1453-1455)Aaa>Taa	p.K485*	PDZK1_uc001eoo.2_Nonsense_Mutation_p.K485*|PDZK1_uc010oza.2_Nonsense_Mutation_p.K374*	NM_002614	NP_002605	Q5T2W1	NHRF3_HUMAN	Homo sapiens PDZ domain containing 1 (PDZK1), transcript variant 1, mRNA.	485					carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TCCAGATTCTAAAGAAGGAAT	0.438000														21			24		0	0	1	0	0
EDNRA	1909	broad.mit.edu	37	4	148407109	148407109	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:148407109C>T	uc003iky.3	+	1	806	c.276C>T	c.(274-276)atC>atT	p.I92I	EDNRA_uc011cid.2_Intron|EDNRA_uc010ipg.2_Silent_p.I92I|EDNRA_uc010ipe.1_Silent_p.I92I|EDNRA_uc010ipf.1_Non-coding_Transcript	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	92					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	CTATTTTCATCGTGGGAATGG	0.443000														69			35		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33681052	33681052	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr13:33681052G>A	uc001uuw.3	-	12	3193	c.3067C>T	c.(3067-3069)Ccc>Tcc	p.P1023S	STARD13_uc001uuu.3_Missense_Mutation_p.P1015S|STARD13_uc001uuv.3_Missense_Mutation_p.P905S|STARD13_uc001uux.3_Missense_Mutation_p.P988S	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	1023	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		ATTCCTTTGGGCAAATCAGTT	0.512000														18			18		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28828809	28828809	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:28828809C>T	uc002rmb.2	+	41	3095	c.3051C>T	c.(3049-3051)acC>acT	p.T1017T	PLB1_uc010ezj.2_Silent_p.T1006T|PLB1_uc002rme.2_Intron	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1017	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCCTTTGGACCAATATGGTAA	0.527000														71			25		0	0	1	0	0
FAM19A2	338811	broad.mit.edu	37	12	62261172	62261172	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:62261172C>T	uc001sqw.3	-	1	1617	c.35G>A	c.(34-36)gGa>gAa	p.G12E	FAM19A2_uc001sqx.3_Missense_Mutation_p.G12E|FAM19A2_uc001sqy.3_Non-coding_Transcript	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA.	12						cytoplasm		p.G12E(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TAGCAGTTTTCCTTTTGTTGC	0.294000														35			17		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45929115	45929115	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr21:45929115G>A	uc002zfe.1	-	9	1787	c.1721C>T	c.(1720-1722)gCc>gTc	p.A574V	TSPEAR_uc010gpv.1_Missense_Mutation_p.A506V	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	574					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CTTGACAAAGGCCTGCGCGGT	0.562000														14			6		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585431	82585431	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:82585431C>T	uc003uhx.2	-	4	5127	c.4838G>A	c.(4837-4839)cGa>cAa	p.R1613Q	PCLO_uc003uhv.2_Missense_Mutation_p.R1613Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1544					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R1613R(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTACTTTTTCGAGTCAGTCG	0.418000														167			91		0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56355504	56355504	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:56355504G>A	uc002ivu.1	-	6	1065	c.888C>T	c.(886-888)atC>atT	p.I296I		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	296					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CATTGGGCGGGATCTGAGGCA	0.632000														42			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598590	179598590	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:179598590C>T	uc021vsy.1	-	49	12019	c.11794G>A	c.(11794-11796)Gat>Aat	p.D3932N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D593N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4859							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)			GCAATCAAATCATCTACTTTC	0.408000														29			19		0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123847920	123847920	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:123847920C>T	uc001pzm.1	-	0	479	c.479G>A	c.(478-480)gGa>gAa	p.G160E		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCAGGTGATTCCAGCCATTTC	0.557000														8			10		0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43258736	43258736	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:43258736C>A	uc002ouo.2	-	4	1090	c.992G>T	c.(991-993)gGt>gTt	p.G331V	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Missense_Mutation_p.G331V|PSG8_uc010ein.3_Missense_Mutation_p.G209V|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	331						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GAGGTCTGGACCATCTGGAGC	0.502000														27			16		3.6726e-16	3.72162e-16	1	1	0
TMEM106B	54664	broad.mit.edu	37	7	12258113	12258113	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:12258113C>T	uc011jxk.2	+	3	647	c.247C>T	c.(247-249)Cca>Tca	p.P83S	TMEM106B_uc003ssh.3_Missense_Mutation_p.P83S	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN	Homo sapiens transmembrane protein 106B (TMEM106B), transcript variant 1, mRNA.	83						integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		GGCATTGATTCCATATAGTGA	0.308000														18			15		0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1074872	1074872	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:1074872G>A	uc002lqz.1	+	9	1410	c.1179G>A	c.(1177-1179)agG>agA	p.R393R	HMHA1_uc010xgd.1_Silent_p.R409R|HMHA1_uc010xge.1_Silent_p.R233R|HMHA1_uc002lra.1_Silent_p.R233R|HMHA1_uc002lrb.1_Silent_p.R276R|HMHA1_uc002lrc.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	393					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)		GTGCCCAGAGGAAGCTGGTGA	0.761000														4			3		0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223438058	223438058	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:223438058C>T	uc001hnx.3	-	3	1272	c.638G>A	c.(637-639)gGa>gAa	p.G213E	SUSD4_uc001hny.4_Missense_Mutation_p.G213E|SUSD4_uc010puw.2_Missense_Mutation_p.G53E|SUSD4_uc001hnz.2_Missense_Mutation_p.G213E|SUSD4_uc010pux.1_Missense_Mutation_p.G142E	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	213	Sushi 3.					integral to membrane		p.P212P(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AAGTTTAAATCCGGGAAAGCA	0.512000														40			39		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12639595	12639595	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:12639595C>T	uc002gno.2	+	5	832	c.533C>T	c.(532-534)tCc>tTc	p.S178F	MYOCD_uc002gnn.2_Missense_Mutation_p.S178F|MYOCD_uc002gnp.1_Missense_Mutation_p.S82F	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	178	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCAGCGGGATCCCCGCCAGAC	0.493000														68			33		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108297037	108297037	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:108297037C>T	uc003ymn.3	-	6	1546	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	ANGPT1_uc011lhv.2_Missense_Mutation_p.E160K|ANGPT1_uc003ymo.3_Missense_Mutation_p.E359K|ANGPT1_uc003ymp.4_Missense_Mutation_p.E159K	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	360	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AAAATAAACTCATTCCCCAGC	0.418000														35			6		0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54848879	54848879	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:54848879G>A	uc002qfj.3	-	4	801	c.744C>T	c.(742-744)gtC>gtT	p.V248V	LILRA4_uc002qfi.3_Silent_p.V182V	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	248	Ig-like C2-type 3.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TGATGTAGCCGACATCAGAGC	0.657000														10			18		0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36122381	36122381	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr22:36122381C>T	uc003aof.3	+	2	266	c.266C>T	c.(265-267)tCc>tTc	p.S89F		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	Homo sapiens apolipoprotein L, 5 (APOL5), mRNA.	89					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GACAAAGATTCCATGCCAGAT	0.393000														27			11		0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49114342	49114342	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:49114342T>A	uc010hkq.3	-	2	405	c.109A>T	c.(109-111)Aag>Tag	p.K37*	QRICH1_uc003cvu.3_Nonsense_Mutation_p.K37*|QRICH1_uc003cvv.3_Nonsense_Mutation_p.K37*	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	37	CARD.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCTGGCCCCTTAGAGGCCAGT	0.527000														56			23		0	0	1	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254886	30254886	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:30254886A>G	uc022bug.1	+	0	845	c.845A>G	c.(844-846)gAa>gGa	p.E282G	MAGEB3_uc004dca.2_Missense_Mutation_p.E282G	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	282	MAGE.							p.A281P(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						GCCCATGCTGAAACCAGCAAG	0.488000														52			9		0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67231825	67231825	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr18:67231825C>T	uc002lkl.3	+	1	366	c.169C>T	c.(169-171)Cat>Tat	p.H57Y		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	57	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CAGAAACTTTCATAAGGTAAG	0.408000														8			13		0	0	1	0	0
PHF2P1	266695	broad.mit.edu	37	13	19625454	19625454	+	RNA	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr13:19625454G>A	uc001umb.1	-	7		c.3069C>T								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		GTTTCTTCATGGTGTCAGGTG	0.542000														8			6		0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149828911	149828911	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:149828911G>A	uc004fef.4	+	12	1497	c.1421G>A	c.(1420-1422)cGa>cAa	p.R474Q	MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.R437Q|MTM1_uc011mxz.2_Missense_Mutation_p.R359Q|MTM1_uc010nte.3_Missense_Mutation_p.R342Q	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	474	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TATAGTTGCCGATTTGGTACT	0.313000														19			13		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70505031	70505031	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:70505031G>A	uc011caq.2	-	2	1047	c.931C>T	c.(931-933)Cct>Tct	p.P311S	UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Missense_Mutation_p.P110S|UGT2A1_uc021xox.1_Missense_Mutation_p.P110S|UGT2A1_uc010iht.3_Intron	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	101					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ATTGTGAGAGGAGTTGGTCTA	0.358000														16			22		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763923	77763923	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:77763923A>T	uc003yau.2	+	9	5153	c.4766A>T	c.(4765-4767)gAt>gTt	p.D1589V	ZFHX4_uc003yaw.1_Missense_Mutation_p.D1544V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1544						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCAACACAGATAACAAACCC	0.453000										HNSCC(33;0.089)				31			19		0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85461792	85461792	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:85461792C>T	uc002blg.3	+	9	1035	c.833C>T	c.(832-834)tCc>tTc	p.S278F	SLC28A1_uc010upd.1_Missense_Mutation_p.S200F|SLC28A1_uc010bnb.3_Missense_Mutation_p.S278F|SLC28A1_uc010upe.2_Missense_Mutation_p.S278F|SLC28A1_uc010upf.1_Missense_Mutation_p.S278F|SLC28A1_uc010upg.1_Missense_Mutation_p.S278F	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	278					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)			TGTGTCATATCCGTTCTCTAC	0.582000														48			46		0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185175889	185175889	+	Missense_Mutation	SNP	C	T	T	rs145355483		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:185175889C>T	uc001grg.4	+	12	2080	c.1966C>T	c.(1966-1968)Cgt>Tgt	p.R656C	SWT1_uc001grh.4_Missense_Mutation_p.R656C	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN	Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.	656										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CAAAAATCTCCGTAAAGGTAT	0.303000														20			13		0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11995136	11995136	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:11995136C>T	uc003wvc.1	-	0	1134	c.1134G>A	c.(1132-1134)tgG>tgA	p.W378*	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	378					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGTGTCTTTCCCATTCACTCT	0.512000														64			6		0	0	1	0	0
NKD2	85409	broad.mit.edu	37	5	1033491	1033491	+	Silent	SNP	A	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:1033491A>C	uc003jbt.1	+	4	212	c.207A>C	c.(205-207)gcA>gcC	p.A69A	NKD2_uc010itf.1_Silent_p.A69A	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Homo sapiens naked cuticle homolog 2 (Drosophila) (NKD2), mRNA.	69	Targeting to the basolateral cell membrane.				Wnt receptor signaling pathway|exocytosis	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CCCTAGTGGCACTCCCCGCTG	0.682000														9			3		0	0	1	0	0
SLAMF1	6504	broad.mit.edu	37	1	160604595	160604595	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:160604595C>T	uc001fwl.4	-	2	854	c.508G>A	c.(508-510)Gac>Aac	p.D170N	SLAMF1_uc010pjk.2_Non-coding_Transcript|SLAMF1_uc010pjl.2_Non-coding_Transcript|SLAMF1_uc010pjm.2_Non-coding_Transcript	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.	170	Ig-like C2-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GCCACATGGTCCCCCTTCTCC	0.582000														30			44		0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39992502	39992502	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr20:39992502C>T	uc002xjy.1	-	3	515	c.291_splice	c.e3-1	p.T97_splice		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	97	EMI.					proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				TGTGCGGTACCTGGGCCAGGG	0.607000														22			37		0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478219	42478219	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:42478219G>A	uc002igw.2	-	7	1445	c.1226C>T	c.(1225-1227)cCc>cTc	p.P409L	GPATCH8_uc002igv.2_Missense_Mutation_p.P331L|GPATCH8_uc010wiz.2_Missense_Mutation_p.P331L	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	409						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AAGTAGAAAGGGAAAATTAGG	0.428000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			32		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163374667	163374667	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:163374667C>T	uc002uch.2	-	4	693	c.464_splice	c.e4-1	p.R155_splice	KCNH7_uc002uci.3_Splice_Site_p.R155_splice	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	155					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CAAAAAATTTCCCTATAAATG	0.368000														13			9		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175663	57175663	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:57175663C>T	uc010ygn.2	-	1	1131	c.904G>A	c.(904-906)Ggc>Agc	p.G302S		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGCTTCTCGCCCGTGTGCACG	0.701000														11			7		0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31656058	31656058	+	Silent	SNP	G	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr22:31656058G>T	uc003akh.3	+	4	691	c.546G>T	c.(544-546)gtG>gtT	p.V182V	LIMK2_uc003aki.3_Intron|LIMK2_uc003akj.3_Silent_p.V161V|LIMK2_uc003akk.3_Silent_p.V161V|LIMK2_uc011aln.2_Silent_p.V99V	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	182	PDZ.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CTGTGCAAGTGAAAGAGTAAG	0.552000														38			19		1.01871e-10	1.03034e-10	1	1	0
NWD1	284434	broad.mit.edu	37	19	16883983	16883983	+	Silent	SNP	C	T	T	rs148295009		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:16883983C>T	uc002neu.4	+	10	2879	c.2457C>T	c.(2455-2457)ttC>ttT	p.F819F	NWD1_uc002net.4_Silent_p.F684F|NWD1_uc002nev.4_Silent_p.F613F|NWD1_uc021uqg.1_Silent_p.F684F	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	819							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCATTTCTTCGCCACCTCAC	0.582000														29			29		0	0	1	0	0
SGCG	6445	broad.mit.edu	37	13	23778001	23778001	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr13:23778001G>A	uc001uom.2	+	1	323	c.168G>A	c.(166-168)tgG>tgA	p.W56*	SGCG_uc009zzv.2_Nonsense_Mutation_p.W56*|SGCG_uc009zzw.2_Nonsense_Mutation_p.W56*	NM_000231	NP_000222	Q13326	SGCG_HUMAN	Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA.	56					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		TTACAATTTGGATTCTTAAAG	0.343000														24			26		0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51687050	51687050	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:51687050G>A	uc002aba.3	+	4	729	c.560G>A	c.(559-561)gGa>gAa	p.G187E	GLDN_uc002abb.3_Missense_Mutation_p.G63E	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	187	Collagen-like 1.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		p.G187E(2)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GGAGCTGCAGGAAATCCAGGG	0.488000														12			8		0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261887	21261887	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:21261887G>A	uc010bwp.1	+	1	1043	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	334								p.D334N(2)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GTGGGATGACGATGAAGTGGA	0.517000														18			16		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100524	110100524	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:110100524G>A	uc003ymz.4	+	0	872	c.783G>A	c.(781-783)agG>agA	p.R261R		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	261						integral to plasma membrane	thyrotropin-releasing hormone receptor activity	p.R261K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TATCTTCAAGGAAGCAGGTAA	0.383000														9			14		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332563	70332563	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:70332563C>T	uc001oqc.3	-	20	3749	c.3637G>A	c.(3637-3639)Gag>Aag	p.E1213K	SHANK2_uc010rqn.2_Missense_Mutation_p.E689K|SHANK2_uc001opz.3_Missense_Mutation_p.E684K|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	900					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TACTTGTTCTCCGTCTCCTGC	0.592000														32			23		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049492	9049492	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:9049492G>A	uc002mkp.3	-	4	32343	c.32139C>T	c.(32137-32139)gcC>gcT	p.A10713A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10715	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						CAGGACTGGTGGCTATTGAAG	0.488000														92			74		0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17349706	17349707	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:17349706_17349707GG>AT	uc011jxz.1	+	1	825_826	c.212_213GG>AT	c.(211-213)agg>aAT	p.R71N		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	71	Helix-loop-helix motif.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TCAGTTCTTAGGCTCAGCGTCA	0.401000														33			16		0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750313	79750313	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:79750313G>A	uc002bew.1	+	1	1899	c.1824G>A	c.(1822-1824)cgG>cgA	p.R608R	KIAA1024_uc010unk.1_Silent_p.R608R	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	608						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AAATTGAACGGAAGCTGGAAT	0.512000														26			31		0	0	1	0	0
EXOC6B	23233	broad.mit.edu	37	2	72719533	72719533	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:72719533G>A	uc010fep.3	-	15	1717	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W	EXOC6B_uc002sij.2_Missense_Mutation_p.R527W	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	Homo sapiens exocyst complex component 6B (EXOC6B), mRNA.	527					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GTTGATTTCCGAATCATGTCA	0.413000														24			33		0	0	1	0	0
NOP14	8602	broad.mit.edu	37	4	2943383	2943384	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:2943383_2943384GG>AA	uc003ggj.1	-	14	2196_2197	c.2124_2125CC>TT	c.(2122-2127)ttccac>ttTTac	p.H709Y	NOP14-AS1_uc003ggd.1_Non-coding_Transcript|NOP14-AS1_uc003gge.1_Intron|NOP14-AS1_uc003ggg.1_Non-coding_Transcript|NOP14-AS1_uc003ggh.3_Intron|NOP14-AS1_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc003ggl.3_Missense_Mutation_p.H709Y	NM_003703	NP_003694	P78316	NOP14_HUMAN	Homo sapiens NOP14 nucleolar protein homolog (yeast) (NOP14), mRNA.	709					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Noc4p-Nop14p complex|mitochondrion|small-subunit processome	snoRNA binding	p.H709H(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						ATGATGGCGTGGAAGGATGGCA	0.668000														22			7		0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62855832	62855832	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:62855832T>C	uc002jey.2	-	10	5048	c.4432A>G	c.(4432-4434)Acc>Gcc	p.T1478A	LRRC37A3_uc010wqg.1_Missense_Mutation_p.T596A|LRRC37A3_uc002jex.1_Missense_Mutation_p.T455A|LRRC37A3_uc010wqf.1_Missense_Mutation_p.T516A|LRRC37A3_uc010dek.1_Missense_Mutation_p.T484A|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1478						integral to membrane		p.T1478N(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGCTGCTGGGTTAGCTGAATT	0.517000														71			109		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82876184	82876184	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:82876184G>A	uc003kii.3	+	14	10478	c.10122G>A	c.(10120-10122)aaG>aaA	p.K3374K	VCAN_uc003kij.3_Silent_p.K2387K|VCAN_uc010jau.2_Silent_p.K1620K|VCAN_uc003kik.3_Silent_p.K633K|VCAN_uc003kil.3_Silent_p.K2038K	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	3374					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CATCAGCAAAGGACAATTCAA	0.383000														27			25		0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122340368	122340368	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:122340368G>A	uc003efm.2	+	7	1207	c.1141G>A	c.(1141-1143)Gga>Aga	p.G381R	PARP15_uc003efn.2_Missense_Mutation_p.G255R|PARP15_uc003efo.1_Missense_Mutation_p.G128R|PARP15_uc003efp.1_Missense_Mutation_p.G147R|PARP15_uc011bjt.1_Missense_Mutation_p.G147R	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	359	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		TGTTCCTGGGGGAAAAGATGT	0.418000														41			12		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040692	107040692	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:107040692C>T	uc010ywi.1	-	19	3788	c.3731G>A	c.(3730-3732)gGg>gAg	p.G1244E		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1244					intracellular transport		binding	p.T1243N(1)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TAATGTGGGCCCAGTGTTTTC	0.443000														171			41		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100645221	100645221	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:100645221C>T	uc003dun.3	-	1	290	c.205G>A	c.(205-207)Gga>Aga	p.G69R	ABI3BP_uc003duo.2_Missense_Mutation_p.G62R|ABI3BP_uc003dup.4_Missense_Mutation_p.G62R	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	69						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						CTGCCATATCCCAGGAGAAGA	0.468000														42			14		0	0	1	0	0
IFT46	56912	broad.mit.edu	37	11	118425227	118425227	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:118425227G>A	uc001pto.2	-	7	1002	c.583C>T	c.(583-585)Cct>Tct	p.P195S	IFT46_uc001ptp.2_Missense_Mutation_p.P144S	NM_020153	NP_064538	Q9NQC8	IFT46_HUMAN	Homo sapiens intraflagellar transport 46 homolog (Chlamydomonas) (IFT46), transcript variant 1, mRNA.	144					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						AGCACCGTAGGGTCTGACTGC	0.473000														17			14		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152426748	152426748	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:152426748C>T	uc021vrb.1	-	79	12203	c.12174G>A	c.(12172-12174)caG>caA	p.Q4058Q	NEB_uc002txr.3_Silent_p.Q524Q|NEB_uc002txu.3_Silent_p.Q5759Q|NEB_uc021vrc.1_Silent_p.Q5759Q|NEB_uc010fnx.3_Silent_p.Q4046Q|NEB_uc021vrd.1_Silent_p.Q4058Q	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4058					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCACAGGGCTCTGGATCTTGG	0.542000														24			7		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61747755	61747755	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:61747755C>T	uc002eog.2	-	9	2599	c.1644G>A	c.(1642-1644)aaG>aaA	p.K548K		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	548	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTTCATTTTTCTTGATGGTGA	0.313000														11			5		0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579708	55579708	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:55579708C>T	uc001nhw.1	+	0	766	c.766C>T	c.(766-768)Ctt>Ttt	p.L256F		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGGAACAGTCCTTTCCATTTA	0.517000														19			10		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94993272	94993272	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:94993272G>A	uc003unt.3	-	5	623	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C	PON1_uc011kih.2_Intron|PON1_uc011kii.2_Missense_Mutation_p.R248C	NM_000940	NP_000931	P27169	PON1_HUMAN	Homo sapiens paraoxonase 3 (PON3), mRNA.	201					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TAAGTCCAGCGAAGATCCAAG	0.448000														102			58		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101727002	101727002	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr13:101727002C>T	uc001vox.1	-	35	4155	c.3966G>A	c.(3964-3966)aaG>aaA	p.K1322K		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1322						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGAGGAGCATCTTTAGCGTTA	0.483000														24			16		0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2074765	2074765	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:2074765T>A	uc001qjx.1	-	4	561	c.481A>T	c.(481-483)Att>Ttt	p.I161F	DCP1B_uc010sdy.1_Missense_Mutation_p.I59F	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	Homo sapiens DCP1 decapping enzyme homolog B (S. cerevisiae) (DCP1B), mRNA.	161					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			ATTCGTAAAATGTCTACTTCT	0.448000														17			18		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57731656	57731656	+	Missense_Mutation	SNP	C	T	T	rs144501542		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:57731656C>T	uc010bfw.3	+	2	1652	c.1459C>T	c.(1459-1461)Ctt>Ttt	p.L487F	CGNL1_uc002aeg.3_Missense_Mutation_p.L487F	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	487	Head.					myosin complex|tight junction	motor activity	p.L487F(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGCGCCCTCCCTTGGTGCACA	0.547000														15			26		0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100244709	100244709	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:100244709C>T	uc003uvy.3	-	10	929	c.822_splice	c.e10-1	p.Q274_splice	ACTL6B_uc003uvz.3_Splice_Site	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	274					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGCAGCCACCCTACCCAGAAG	0.617000														38			20		0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566690	5566690	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:5566690G>A	uc010qzh.2	-	0	64	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCCTACCAGAATGAAGGGT	0.463000														27			10		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				28			91		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69351755	69351755	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:69351755A>G	uc010lyz.3	+	1	640	c.349A>G	c.(349-351)Act>Gct	p.T117A	C8orf34_uc010lyx.2_Missense_Mutation_p.T117A|C8orf34_uc010lyy.2_Missense_Mutation_p.T117A|C8orf34_uc003xyb.3_Missense_Mutation_p.T6A	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	31					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAAGTTAATAACTGAGACACC	0.383000														17			30		0	0	1	0	0
CEP55	55165	broad.mit.edu	37	10	95259876	95259876	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr10:95259876C>T	uc001kiq.4	+	1	372	c.68C>T	c.(67-69)tCc>tTc	p.S23F	CEP55_uc009xug.3_Missense_Mutation_p.S23F	NM_018131	NP_060601	Q53EZ4	CEP55_HUMAN	Homo sapiens centrosomal protein 55kDa (CEP55), transcript variant 1, mRNA.	23					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AACTCCAAATCCGAAACTACA	0.348000														11			50		0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82969277	82969277	+	Nonsense_Mutation	SNP	A	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:82969277A>C	uc003kim.3	-	0	137	c.66T>G	c.(64-66)taT>taG	p.Y22*	HAPLN1_uc003kin.3_Nonsense_Mutation_p.Y22*	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	22					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GATCCAGAGTATAGTTGTCTG	0.393000														33			29		0	0	1	0	0
CIDEB	27141	broad.mit.edu	37	14	24776628	24776628	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr14:24776628C>T	uc001won.3	-	1	259	c.135G>A	c.(133-135)cgG>cgA	p.R45R	CIDEB_uc001woo.3_Silent_p.R45R|CIDEB_uc001wop.3_Silent_p.R45R|LTB4R2_uc010alo.3_5'Flank|LTB4R2_uc001wor.3_5'Flank	NM_014430	NP_055245	Q9UHD4	CIDEB_HUMAN	Homo sapiens cell death-inducing DFFA-like effector b (CIDEB), mRNA.	45	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|apoptosis	cytosol				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		TCCGGATGGTCCGCTTGTGAT	0.577000														5			39		0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119201	3119201	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:3119201G>A	uc010vrc.2	+	0	287	c.287G>A	c.(286-288)gGa>gAa	p.G96E		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TCTTTTGGGGGATGCCTAACG	0.493000														45			16		0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22820480	22820480	+	Silent	SNP	C	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:22820480C>A	uc003gqp.4	+	4	1435	c.1344C>A	c.(1342-1344)gtC>gtA	p.V448V	GBA3_uc010iep.3_Silent_p.V141V|GBA3_uc011bxo.2_Silent_p.V449V	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	448					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GACCCCGAGTCCCTTACACAT	0.502000														6			17		1.33834e-09	1.35105e-09	1	1	0
PCDHB8	56128	broad.mit.edu	37	5	140558444	140558444	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:140558444G>A	uc011dai.2	+	0	1074	c.829G>A	c.(829-831)Gag>Aag	p.E277K	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	277	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTCAACGGAGAGATTTCCTA	0.423000														5			42		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41203247	41203247	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:41203247C>T	uc003jmk.2	-	1	296	c.86G>A	c.(85-87)tGg>tAg	p.W29*	C6_uc003jml.1_Nonsense_Mutation_p.W29*	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	29	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCACTGAGTCCATGCATAGTG	0.517000														77			63		0	0	1	0	0
C22orf28	51493	broad.mit.edu	37	22	32793981	32793981	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr22:32793981A>C	uc003amm.2	-	6	892	c.761T>G	c.(760-762)gTg>gGg	p.V254G	C22orf28_uc011ama.1_Non-coding_Transcript	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	Homo sapiens chromosome 22 open reading frame 28 (C22orf28), mRNA.	254					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|RNA ligase (ATP) activity|metal ion binding|vinculin binding			breast(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	21						CATCACACACACCTGTCCCTT	0.458000														50			33		0	0	1	0	0
ASB9	140462	broad.mit.edu	37	X	15266923	15266923	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:15266923G>A	uc004cwl.3	-	5	1000	c.703C>T	c.(703-705)Cct>Tct	p.P235S	ASB9_uc004cwm.3_Missense_Mutation_p.P225S|ASB9_uc004cwk.3_Missense_Mutation_p.P235S|ASB9_uc010ner.3_Missense_Mutation_p.P235S|ASB9_uc004cwn.2_Missense_Mutation_p.P206S	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 9 (ASB9), transcript variant 1, mRNA.	235					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					AGCTCCACAGGACGTTTGCCT	0.567000														36			36		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76465400	76465400	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:76465400C>T	uc003yaq.3	+	5	742	c.472C>T	c.(472-474)Cct>Tct	p.P158S	HNF4G_uc003yar.3_Missense_Mutation_p.P195S	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	158					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TAAATATATTCCTGCCTTCTG	0.338000														34			24		0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87693930	87693930	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:87693930G>A	uc003hpz.3	+	32	5649	c.5169_splice	c.e32-1	p.S1723_splice	PTPN13_uc003hpy.3_Splice_Site_p.S1728_splice|PTPN13_uc003hqa.3_Splice_Site_p.S1704_splice|PTPN13_uc003hqb.3_Splice_Site_p.S1532_splice|PTPN13_uc003hqc.1_Splice_Site_p.S89_splice	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	1723						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TGTCTCTGTAGTAATCCTTCC	0.373000														60			14		0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56824744	56824744	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:56824744C>T	uc001slf.2	-	8	998	c.830G>A	c.(829-831)cGa>cAa	p.R277Q	TIMELESS_uc001slg.2_Missense_Mutation_p.R276Q	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	277					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.R277R(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCCCCCAAATCGAGAATGCCT	0.438000														68			46		0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80228502	80228502	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:80228502G>A	uc003piy.3	-	2	722	c.110C>T	c.(109-111)tCg>tTg	p.S37L	LCA5_uc003pix.3_Missense_Mutation_p.S37L|LCA5_uc011dyr.2_Missense_Mutation_p.S37L	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	37					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		ACTGACCAGCGATGATCGGCC	0.418000														49			34		0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47331627	47331627	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr7:47331627G>A	uc003tnw.3	-	26	4212	c.3854C>T	c.(3853-3855)cCa>cTa	p.P1285L	TNS3_uc022acn.1_Missense_Mutation_p.P842L	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	1285						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TTCCTCCAATGGATCTGTAGG	0.468000														34			7		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108010917	108010917	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:108010917G>A	uc001tmk.1	+	7	2574	c.2053G>A	c.(2053-2055)Gag>Aag	p.E685K	BTBD11_uc009zut.1_Missense_Mutation_p.E685K|BTBD11_uc001tmj.3_Missense_Mutation_p.E685K|BTBD11_uc001tml.1_Missense_Mutation_p.E222K	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	685						integral to membrane	DNA binding	p.E684K(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCATGGCGAGGAGAACTACTC	0.607000														9			38		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145304477	145304477	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:145304477C>T	uc021oul.1	+	9	1445	c.1410C>T	c.(1408-1410)gtC>gtT	p.V470V	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.V470V|NBPF10_uc010oyi.2_Silent_p.V9V|NBPF10_uc001emq.1_Silent_p.V199V|NBPF10_uc021oum.1_Silent_p.V9V	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	470										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAAAGGAAGTCCCTGAGGACT	0.483000														142			40		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065949	35065949	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:35065949G>A	uc003jjm.3	-	9	1670	c.1111C>T	c.(1111-1113)Ccc>Tcc	p.P371S	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.P270S|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	371					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AATGTGGAGGGATTGGCCTGG	0.527000														19			22		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125103757	125103757	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:125103757C>T	uc003yqw.3	+	33	4691	c.4485C>T	c.(4483-4485)caC>caT	p.H1495H	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1495						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCTACTTTCACCCTGGGAAAA	0.453000														40			41		0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15769135	15769135	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:15769135C>T	uc010xok.2	+	9	1227	c.1177C>T	c.(1177-1179)Ccc>Tcc	p.P393S	CYP4F3_uc010xol.2_Missense_Mutation_p.P393S|CYP4F3_uc002nbj.3_Missense_Mutation_p.P393S|CYP4F3_uc010xom.2_Missense_Mutation_p.P244S|CYP4F3_uc002nbk.3_Missense_Mutation_p.P393S|CYP4F3_uc010xon.2_Missense_Mutation_p.P103S	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	393					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.P393S(2)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GAGGCTGCATCCCCCAGTCCC	0.627000														46			40		0	0	1	0	0
REXO1L1	254958	broad.mit.edu	37	8	86573708	86573708	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:86573708G>A	uc022axf.1	-	0	2019	c.2019C>T	c.(2017-2019)gcC>gcT	p.A673A		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	673						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						GCTAAGGACAGGCCAGGGCGG	0.682000														46			5		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734464	12734464	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:12734464C>T	uc004cuz.2	+	14	2392	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F	FRMPD4_uc011mij.2_Missense_Mutation_p.S621F	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	629					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						GCTCAGCGGTCCCTATTGACC	0.507000														61			43		0	0	1	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66992709	66992709	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:66992709C>T	uc003xvs.1	+	4	722	c.431C>T	c.(430-432)tCa>tTa	p.S144L	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	144					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CGGCCCGAGTCATCAGTGCCA	0.557000														17			18		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54791158	54791158	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:54791158G>A	uc001sga.3	-	28	3125	c.3057C>T	c.(3055-3057)atC>atT	p.I1019I		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	1019					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCTTGTAGAGGATGTAGATGA	0.542000														27			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075252	9075252	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:9075252G>A	uc002mkp.3	-	2	12398	c.12194C>T	c.(12193-12195)tCt>tTt	p.S4065F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4067	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						CGACCTCATAGACTGGGCAAG	0.483000														68			33		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10720328	10720328	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:10720328G>A	uc001aro.3	-	5	1091	c.771C>T	c.(769-771)ccC>ccT	p.P257P	CASZ1_uc001arp.1_Silent_p.P257P|CASZ1_uc009vmx.2_Silent_p.P281P|CASZ1_uc001arq.1_Silent_p.P116P	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCTTGGTGCTGGGGGCCGGCC	0.682000														52			12		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31374520	31374520	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:31374520G>A	uc002ebt.3	+	13	1602	c.1535G>A	c.(1534-1536)gGg>gAg	p.G512E	ITGAX_uc002ebu.1_Missense_Mutation_p.G512E|ITGAX_uc010vfk.1_Missense_Mutation_p.G162E	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	512					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GTTCTCTACGGGGAGCAGGGC	0.637000														79			56		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41539213	41539213	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr21:41539213G>A	uc002yyq.1	-	15	3402	c.2950C>T	c.(2950-2952)Cct>Tct	p.P984S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	984	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGACCATCAGGAGCTGTAAGG	0.522000														16			26		0	0	1	0	0
ZNF645	158506	broad.mit.edu	37	X	22292036	22292036	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:22292036C>T	uc004dai.2	+	0	1007	c.928C>T	c.(928-930)Cgt>Tgt	p.R310C		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	Homo sapiens zinc finger protein 645 (ZNF645), mRNA.	310	Pro-rich.					intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TAACTCGGTTCGTAGCCAAGT	0.468000														52			27		0	0	1	0	0
CLIC6	54102	broad.mit.edu	37	21	36080333	36080333	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr21:36080333G>A	uc010gmt.1	+	3	1630	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K	CLIC6_uc002yuf.1_Missense_Mutation_p.E526K	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	Homo sapiens chloride intracellular channel 6 (CLIC6), nuclear gene encoding mitochondrial protein, mRNA.	544						chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GAATAAGATCGAGGAGTTCTT	0.483000														25			15		0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17266548	17266548	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:17266548G>A	uc001azt.2	+	12	1837	c.1768G>A	c.(1768-1770)Gag>Aag	p.E590K	CROCC_uc009voy.1_Missense_Mutation_p.E293K|CROCC_uc009voz.1_Missense_Mutation_p.E353K|CROCC_uc001azu.2_5'UTR	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	590					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CGCCCAGCGCGAGGTGCAGCG	0.677000														20			8		0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	137019667	137019667	+	Missense_Mutation	SNP	G	A	A	rs145735047		TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:137019667G>A	uc003qhc.3	-	3	1127	c.766C>T	c.(766-768)Cgt>Tgt	p.R256C	MAP3K5_uc011edk.1_Missense_Mutation_p.R101C|MAP3K5_uc010kgw.1_Missense_Mutation_p.R256C	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	256					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding	p.R256C(2)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGAATAAAACGATCCACAAGA	0.408000														17			14		0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146823838	146823838	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:146823838C>T	uc003ikn.3	-	1	621	c.573G>A	c.(571-573)tgG>tgA	p.W191*	ZNF827_uc003ikm.3_Nonsense_Mutation_p.W191*|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	191					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)					TACCTTGATTCCATATAAAAC	0.522000														38			10		0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79617301	79617301	+	RNA	SNP	A	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr5:79617301A>T	uc011ctk.1	-	0		c.358T>A			SPZ1_uc003kgn.3_Missense_Mutation_p.M423L			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TAGGGGAAAAATGAGGTCAGC	0.373000														29			18		0	0	1	0	0
GEMIN4	50628	broad.mit.edu	37	17	649279	649279	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:649279G>A	uc002frs.1	-	1	2123	c.2004C>T	c.(2002-2004)gaC>gaT	p.D668D		NM_015721	NP_056536	P57678	GEMI4_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.	668					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	p.D668N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCAGACTGAGGTCTACCTCTT	0.522000														17			7		0	0	1	0	0
C17orf80	55028	broad.mit.edu	37	17	71232516	71232516	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr17:71232516G>A	uc002jjm.4	+	2	1089	c.895G>A	c.(895-897)Gga>Aga	p.G299R	C17orf80_uc010wqu.1_Missense_Mutation_p.G299R|C17orf80_uc010dfj.3_Missense_Mutation_p.G299R|C17orf80_uc002jjk.1_Missense_Mutation_p.G299R|C17orf80_uc002jjl.4_Missense_Mutation_p.G299R	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	Homo sapiens chromosome 17 open reading frame 80 (C17orf80), transcript variant 1, mRNA.	299						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			ACAAGAGAAAGGACTTACCCT	0.433000														13			9		0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181722	128181722	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:128181722G>A	uc003ekk.1	-	2	2028	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.R123C	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	123					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CGGCCACCACGGTCACTATTG	0.582000														10			28		0	0	1	0	0
FAM70B	348013	broad.mit.edu	37	13	114504661	114504661	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr13:114504661G>C	uc001vuh.3	+	6	572	c.545G>C	c.(544-546)gGc>gCc	p.G182A		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	182						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			GAGTTCATCGGCGTCAGCGGC	0.637000														17			5		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496630	20496630	+	RNA	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:20496630G>A	uc001ytf.1	+	5		c.683G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TCATGAAGGGGAAGCCGAGGG	0.438000														26			8		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44932917	44932917	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:44932917C>T	uc002oze.1	-	5	2473	c.2039G>A	c.(2038-2040)gGa>gAa	p.G680E	ZNF229_uc010ejk.1_Missense_Mutation_p.G334E|ZNF229_uc010ejl.1_Missense_Mutation_p.G674E	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	680					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GGGCTTTTTTCCCGTGTGGAC	0.507000														52			20		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160825821	160825821	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:160825821C>T	uc002ube.2	-	18	2922	c.2710G>A	c.(2710-2712)Gaa>Aaa	p.E904K	PLA2R1_uc010zcp.2_Missense_Mutation_p.E904K|PLA2R1_uc002ubf.3_Missense_Mutation_p.E904K	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	904	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ACAGTTCTTTCTCTTCCTGTG	0.373000														34			26		0	0	1	0	0
PPOX	5498	broad.mit.edu	37	1	161138347	161138347	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:161138347G>A	uc001fyj.2	+	5	887	c.597G>A	c.(595-597)ctG>ctA	p.L199L	PPOX_uc001fyg.2_Silent_p.L199L|PPOX_uc010pkg.1_Silent_p.L37L|PPOX_uc001fyi.2_Silent_p.L37L|PPOX_uc010pkh.1_Intron	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	199					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCATATTACTGGGCCTGCTGC	0.537000														26			22		0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124515335	124515335	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:124515335G>A	uc003eho.3	-	9	1890	c.1593C>T	c.(1591-1593)aaC>aaT	p.N531N	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	531	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		AGGAGCACTGGTTGCAGCTGC	0.607000														39			52		0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177608368	177608368	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:177608368C>T	uc003ius.1	-	5	1548	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	373					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GAACTTCTTTCCTTTTAACAA	0.368000														81			51		0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17637499	17637499	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:17637499G>A	uc003ncd.1	-	15	2549	c.2349C>T	c.(2347-2349)acC>acT	p.T783T	NUP153_uc011dje.1_Silent_p.T814T|NUP153_uc010jpl.1_Silent_p.T741T	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	783					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CAAATCCTAAGGTACCAGTGG	0.438000														81			13		0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2525366	2525366	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:2525366G>A	uc001ajy.2	-	18	1968	c.1754C>T	c.(1753-1755)cCt>cTt	p.P585L	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	585					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GATCCCGGCAGGGAATACTGT	0.597000														18			10		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187510313	187510313	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:187510313G>A	uc003izf.3	-	26	13388	c.13200C>T	c.(13198-13200)ttC>ttT	p.F4400F	FAT1_uc010isn.3_Silent_p.F47F	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	4400					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATAGTTGGGGAACTCTTGTA	0.488000										HNSCC(5;0.00058)				64			63		0	0	1	0	0
TNP2	7142	broad.mit.edu	37	16	11362868	11362868	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:11362868C>T	uc002das.3	-	0	293	c.252G>A	c.(250-252)aaG>aaA	p.K84K	RMI2_uc002daq.1_Intron	NM_005425	NP_005416	Q05952	STP2_HUMAN	Homo sapiens transition protein 2 (during histone to protamine replacement) (TNP2), mRNA.	84					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						AGTTCATAGTCTTTTTGTGGC	0.567000														65			46		0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35821177	35821177	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:35821177G>A	uc010ngt.1	+	1	1143	c.864G>A	c.(862-864)atG>atA	p.M288I	MAGEB16_uc022bus.1_Missense_Mutation_p.M288I	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	288	MAGE.							p.M455I(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CCAGCAAGATGAAAGTCCTGG	0.498000														26			8		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187524477	187524478	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr4:187524477_187524478GG>AA	uc003izf.3	-	18	11390_11391	c.11202_11203CC>TT	c.(11200-11205)ttccag>ttTTag	p.Q3735*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3735					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.F3734L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAGAGTTTCTGGAATACATTCA	0.465000										HNSCC(5;0.00058)				13			10		0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007457	6007457	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:6007457G>A	uc001mcd.2	-	0	759	c.704C>T	c.(703-705)tCc>tTc	p.S235F		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGGCATAGGAAACACCAAT	0.517000														37			26		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767609	77767609	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr8:77767609G>A	uc003yau.2	+	9	8839	c.8452G>A	c.(8452-8454)Gag>Aag	p.E2818K	ZFHX4_uc003yaw.1_Missense_Mutation_p.E2773K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2773						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACCGGAGACGAGGGAAACAC	0.478000										HNSCC(33;0.089)				16			19		0	0	1	0	0
PHLDB3	653583	broad.mit.edu	37	19	43998885	43998885	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:43998885G>A	uc002own.4	-	8	1377	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F	PHLDB3_uc010eit.3_Missense_Mutation_p.S77F	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 3 (PHLDB3), mRNA.	373										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				AAAGAGGCAGGAAGAAGTAGG	0.597000														5			11		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499716	66499716	+	Missense_Mutation	SNP	A	G	G	rs141617852	by1000genomes	TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr9:66499716A>G	uc004aee.1	+	0	526	c.526A>G	c.(526-528)Aat>Gat	p.N176D	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		CCTGGAGCCCAATCTGCTGGA	0.607000														34			8		0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77406717	77406717	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr15:77406717G>A	uc021sqy.1	-	7	5598	c.5022C>T	c.(5020-5022)ctC>ctT	p.L1674L		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1674	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										AAGTCTGGAAGAGATCTTCGC	0.557000														54			21		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120377	94120377	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:94120377G>A	uc003poe.3	-	2	915	c.674C>T	c.(673-675)tCc>tTc	p.S225F	EPHA7_uc003pof.3_Missense_Mutation_p.S225F|EPHA7_uc011eac.2_Missense_Mutation_p.S225F|EPHA7_uc003pog.4_Missense_Mutation_p.S225F	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	225	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GACTAAAGAGGAAAATTCTGA	0.463000														7			11		0	0	1	0	0
MYB	4602	broad.mit.edu	37	6	135513668	135513668	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:135513668C>T	uc003qfh.3	+	5	933	c.734C>T	c.(733-735)tCc>tTc	p.S245F	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Missense_Mutation_p.S245F|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_5'UTR|MYB_uc003qfw.3_Missense_Mutation_p.S57F|MYB_uc010kgi.3_Missense_Mutation_p.S245F|MYB_uc003qfq.3_Missense_Mutation_p.S245F|MYB_uc010kgj.3_Missense_Mutation_p.S245F|MYB_uc003qfo.3_Missense_Mutation_p.S245F|MYB_uc003qfu.3_Missense_Mutation_p.S245F|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Non-coding_Transcript|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Non-coding_Transcript|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Non-coding_Transcript|MYB_uc003qfi.3_Missense_Mutation_p.S245F|MYB_uc003qfe.3_Non-coding_Transcript|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Non-coding_Transcript|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Missense_Mutation_p.S245F|MYB_uc003qgd.1_Missense_Mutation_p.S57F	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	245					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AACGACTATTCCTATTACCAC	0.438000			T	NFIB	adenoid cystic carcinoma									24			8		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564267	176564267	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:176564267G>A	uc001gkz.3	+	2	2691	c.1527G>A	c.(1525-1527)ttG>ttA	p.L509L	PAPPA2_uc001gky.1_Silent_p.L509L|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	509	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATGTGGAATTGATCTCCCAGT	0.532000														40			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596941	179596941	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr2:179596941C>T	uc021vsy.1	-	53	13248	c.13023G>A	c.(13021-13023)aaG>aaA	p.K4341K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K1002K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5268	Ig-like 23.						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)			TGCTGCTCTCCTTAATTTCTC	0.438000														63			52		0	0	1	0	0
KCNMB4	27345	broad.mit.edu	37	12	70760539	70760539	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:70760539G>A	uc001svx.3	+	0	478	c.25G>A	c.(25-27)Gag>Aag	p.E9K		NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 4 (KCNMB4), mRNA.	9					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GGTGGCTTACGAGTACACGGA	0.692000														30			3		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167095812	167095812	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:167095812G>A	uc001geb.1	+	4	1460	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	482					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGCATGGAACGAGAGGCTGCT	0.647000														19			12		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16282829	16282829	+	Silent	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr16:16282829G>A	uc002den.4	-	12	1675	c.1638C>T	c.(1636-1638)gtC>gtT	p.V546V	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Silent_p.V558V	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	546	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CCACCAGTGCGACCTGGGGGG	0.587000														55			16		0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154516517	154516518	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:154516517_154516518GG>AA	uc009wow.3	+	8	1420_1421	c.582_583GG>AA	c.(580-585)ggggag>ggAAag	p.E195K	TDRD10_uc001ffd.3_Missense_Mutation_p.E195K|TDRD10_uc001ffe.3_Missense_Mutation_p.E116K	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	195							RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCGTCCGTGGGGAGGCGGGGCT	0.624000														101			17		0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15728902	15728902	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:15728902C>T	uc002nbi.3	+	2	354	c.290C>T	c.(289-291)cCc>cTc	p.P97L	CYP4F8_uc010xoi.1_Missense_Mutation_p.P97L|CYP4F8_uc010xoj.2_Intron	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	97					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCCATCACTCCCATCATCAAC	0.587000														57			50		0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49855099	49855099	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chrX:49855099C>T	uc004dos.1	+	9	2109	c.1861C>T	c.(1861-1863)Cca>Tca	p.P621S	CLCN5_uc004dor.1_Missense_Mutation_p.P691S|CLCN5_uc004doq.1_Missense_Mutation_p.P691S|CLCN5_uc004dot.1_Missense_Mutation_p.P621S	NM_000084	NP_000075	P51795	CLCN5_HUMAN	Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA.	621	CBS 1.				excretion	Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane	ATP binding|antiporter activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CAGTGGCTTCCCAGTGGTGGT	0.463000														12			10		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7188218	7188218	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:7188218G>A	uc010sfy.2	-	8	1561	c.1502C>T	c.(1501-1503)cCt>cTt	p.P501L		NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	579	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	ATCGTTGTCAGGGAGGCAGAT	0.552000														12			7		0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6943201	6943201	+	Silent	SNP	A	G	G			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr11:6943201A>G	uc010rav.2	+	0	969	c.969A>G	c.(967-969)agA>agG	p.R323R		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA.	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TAGTTGGGAGAAAGTGCTTCT	0.398000														12			10		0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32561666	32561666	+	Silent	SNP	C	T	T			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr14:32561666C>T	uc001wrl.3	+	1	2030	c.1791C>T	c.(1789-1791)aaC>aaT	p.N597N	ARHGAP5_uc001wrm.3_Silent_p.N597N|ARHGAP5_uc001wrn.3_Silent_p.N597N|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	597					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATAAAGTTAACCTTTTTATTT	0.368000														3			16		0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155936216	155936216	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr1:155936216delG	uc001fmu.2	-	7	721	c.466delC	c.(466-468)cgafs	p.R156fs	ARHGEF2_uc001fmr.2_Frame_Shift_Del_p.R84fs|ARHGEF2_uc001fms.2_Frame_Shift_Del_p.R111fs|ARHGEF2_uc001fmt.2_Frame_Shift_Del_p.R111fs|ARHGEF2_uc010pgt.1_Frame_Shift_Del_p.R84fs|ARHGEF2_uc010pgu.1_Frame_Shift_Del_p.R156fs	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	111					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding	p.R156Q(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCTTACTTCGAAGAGAAACG	0.562													---	45	---	---	31	---					
ATRIP	84126	broad.mit.edu	37	3	48501288	48501289	+	Frame_Shift_Del	DEL	CC	-	-			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr3:48501288_48501289delCC	uc003ctf.1	+	6	1060_1061	c.1028_1029delCC	c.(1027-1029)accfs	p.T343fs	ATRIP_uc011bbj.1_Frame_Shift_Del_p.T216fs|ATRIP_uc003ctg.1_Frame_Shift_Del_p.T343fs|TREX1_uc010hjy.3_5'UTR	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	Homo sapiens ATR interacting protein (ATRIP), transcript variant 1, mRNA.	343				T -> A (in Ref. 2; BAF84257).	DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTGCTGGCACCCCCCTGCAGC	0.535								Other conserved DNA damage response genes					---	56	---	---	46	---					
TNXB	7148	broad.mit.edu	37	6	32017236	32017236	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr6:32017236delG	uc003nzl.2	-	27	9764	c.9562delC	c.(9562-9564)cagfs	p.Q3188fs	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3235					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						AAGCGGCCCTGGGGGACGGTC	0.692													---	117	---	---	20	---					
OR13C5	138799	broad.mit.edu	37	9	107361451	107361452	+	Frame_Shift_Del	DEL	GC	-	-			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr9:107361451_107361452delGC	uc011lvp.2	-	0	243_244	c.243_244delGC	c.(241-246)acgctafs	p.T81fs		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AAGCTCACTAGCGTGGAGGGAA	0.510													---	6	---	---	3	---					
NR4A1	3164	broad.mit.edu	37	12	52448454	52448454	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:52448454delC	uc001rzs.3	+	2	661	c.342delC	c.(340-342)ggcfs	p.G114fs	NR4A1_uc010sno.2_Frame_Shift_Del_p.G127fs|NR4A1_uc001rzr.2_Frame_Shift_Del_p.G114fs|NR4A1_uc009zmb.2_Frame_Shift_Del_p.G114fs|NR4A1_uc001rzt.3_Frame_Shift_Del_p.G114fs|NR4A1_uc009zmc.3_5'Flank	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	114					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GCTACCCCGGCCCCCTGAGCG	0.677													---	89	---	---	47	---					
KNTC1	9735	broad.mit.edu	37	12	123087590	123087591	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr12:123087590_123087591delTG	uc001ucv.3	+	47	5064_5065	c.4901_4902delTG	c.(4900-4902)ctgfs	p.L1634fs	KNTC1_uc010taf.2_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	1634					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTGGACACTCTGTACGTGTCTA	0.366													---	4	---	---	2	---					
ZNF579	163033	broad.mit.edu	37	19	56089908	56089909	+	In_Frame_Ins	INS	-	CCG	CCG	rs141478862	by1000genomes	TCGA-FS-A4F5-06A-11D-A25O-08	TCGA-FS-A4F5-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1D84AB9A-8603-4A0D-A250-EEDFCE113241	019F425C-9609-4F27-AB25-EA54BE720545	g.chr19:56089908_56089909insCCG	uc002qlh.3	-	1	1150_1151	c.1097_1098insCGG	c.(1096-1098)ggg>ggCGGg	p.366_366G>GG	ZNF579_uc021vby.1_In_Frame_Ins_p.366_366G>GG	NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	Homo sapiens zinc finger protein 579 (ZNF579), mRNA.	366	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G366_Q367insG(2)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		CTCCGTTCTGCCCTTCTCCCCC	0.748													---	3	---	---	3	---