Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LGR4	55366	broad.mit.edu	37	11	27402440	27402440	+	Splice_Site	SNP	A	A	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr11:27402440A>G	ENST00000379214.4	-	8	1274		c.e8+1		LGR4_ENST00000389858.4_Splice_Site	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4							integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AAAAATACTTACATAGTTCTT	0.318000													17	10					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187533578	187533578	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr2:187533578C>G	ENST00000261023.3	+	25	2797	c.2523C>G	c.(2521-2523)atC>atG	p.I841M	ITGAV_ENST00000374907.3_Missense_Mutation_p.I805M|ITGAV_ENST00000474571.1_3'UTR|ITGAV_ENST00000433736.2_Missense_Mutation_p.I795M|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	841					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TGTTGTATATCCTTCATTATG	0.363000													23	20					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16958833	16958833	+	RNA	SNP	T	T	A	rs28687450	by1000genomes	TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:16958833T>A	ENST00000412962.1	-	0	74																											TCTGCTTCTGTAGACGCTTCA	0.587000													3	19					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55523533	55523533	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr2:55523533C>G	ENST00000436346.1	-	30	5793	c.4952G>C	c.(4951-4953)aGa>aCa	p.R1651T	CCDC88A_ENST00000422883.2_Missense_Mutation_p.R152T|CCDC88A_ENST00000263630.8_Missense_Mutation_p.R1623T|CCDC88A_ENST00000413716.2_Missense_Mutation_p.R1650T|CCDC88A_ENST00000336838.6_Missense_Mutation_p.R1650T	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1651					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGGGCTTGATCTGGTCTGTCT	0.473000													7	43					0	0	1	0	0
TRAV23DV6	28660	broad.mit.edu	37	14	22554943	22554943	+	RNA	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr14:22554943G>C	ENST00000390451.2	+	0	114																											GTGGCCAACAGAAGGAGAAAA	0.398000													3	15					0	0	1	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11855796	11855796	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr16:11855796C>G	ENST00000396516.2	-	17	2380	c.2183G>C	c.(2182-2184)aGa>aCa	p.R728T	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.R728T			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	728						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						ACAATATTTTCTGTTTTTGTC	0.338000													9	11					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56952794	56952794	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr19:56952794C>G	ENST00000504904.3	-	7	2289	c.1570G>C	c.(1570-1572)Gag>Cag	p.E524Q	ZNF667_ENST00000292069.6_Missense_Mutation_p.E524Q|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.E652Q			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TATGGCTTCTCTCCAGTGTGA	0.438000													36	45					0	0	1	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239307435	239307435	+	Missense_Mutation	SNP	G	G	A	rs149205563	by1000genomes	TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr2:239307435G>A	ENST00000373327.4	+	17	2173	c.1951G>A	c.(1951-1953)Gcg>Acg	p.A651T	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.A651T|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.A585T	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	651	DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GGCTGAGCTCGCGGAGCTGGA	0.483000													16	19					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55211118	55211118	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr7:55211118G>T	ENST00000275493.2	+	3	538	c.361G>T	c.(361-363)Gtc>Ttc	p.V121F	EGFR_ENST00000420316.2_Missense_Mutation_p.V121F|EGFR_ENST00000344576.2_Missense_Mutation_p.V121F|EGFR_ENST00000342916.3_Missense_Mutation_p.V121F|EGFR_ENST00000442591.1_Missense_Mutation_p.V121F|EGFR_ENST00000454757.2_Missense_Mutation_p.V68F|EGFR_ENST00000455089.1_Missense_Mutation_p.V121F	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	121					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCTTAGCAGTCTTATCTAA	0.443000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			23	38					2.98393e-07	3.10931e-07	1	1	0
HNRNPA0	10949	broad.mit.edu	37	5	137089588	137089588	+	Silent	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr5:137089588G>C	ENST00000314940.4	-	1	451	c.168C>G	c.(166-168)tcC>tcG	p.S56S		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	56	RRM 1.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCTCCACATTGGAGTAGGTCA	0.662000													9	22					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5434085	5434085	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr18:5434085A>C	ENST00000341928.2	-	7	981	c.641T>G	c.(640-642)gTg>gGg	p.V214G	EPB41L3_ENST00000342933.3_Missense_Mutation_p.V214G|EPB41L3_ENST00000540638.2_Missense_Mutation_p.V214G|EPB41L3_ENST00000544123.1_Missense_Mutation_p.V214G|EPB41L3_ENST00000400111.3_Missense_Mutation_p.V214G|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	214	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCTTCCGGACACGATGTCATC	0.542000													15	36					0	0	1	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41605741	41605741	+	Silent	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr22:41605741C>T	ENST00000216237.5	+	2	224	c.66C>T	c.(64-66)gaC>gaT	p.D22D	L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000451176.1_RNA|RP4-756G23.5_ENST00000441316.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	22					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGAAGATGACGACTTGGAGC	0.478000													13	51					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144860503	144860503	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr6:144860503C>T	ENST00000367545.3	+	44	6443	c.6443C>T	c.(6442-6444)tCa>tTa	p.S2148L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2148					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)		GAGATGCTTTCAGATAAAAGT	0.353000													15	29					0	0	1	0	0
HLA-DPA1	3113	broad.mit.edu	37	6	33037013	33037013	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr6:33037013G>C	ENST00000419277.1	-	4	540	c.411C>G	c.(409-411)atC>atG	p.I137M	HLA-DPA1_ENST00000463066.1_5'UTR|HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.I137M	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	137	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CAATGTGGCAGATGAGGGTGT	0.602000													12	39					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79713497	79713497	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr6:79713497G>A	ENST00000275034.4	-	16	1770	c.1603C>T	c.(1603-1605)Cat>Tat	p.H535Y		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	535					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			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)		AGATGTCCATGAGAGTCTGTG	0.373000													5	27					0	0	1	0	0
TRMT5	57570	broad.mit.edu	37	14	61446417	61446417	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr14:61446417C>G	ENST00000261249.6	-	2	583	c.199G>C	c.(199-201)Gag>Cag	p.E67Q	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	67						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		GTCTCTCTCTCATGTGTTTCT	0.403000													58	42					0	0	1	0	0
MSC	9242	broad.mit.edu	37	8	72756331	72756331	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr8:72756331C>T	ENST00000325509.4	-	1	372	c.83G>A	c.(82-84)aGg>aAg	p.R28K	RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	28					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GAGGGGCGGCCTCTTGGAGGC	0.706000													6	18					0	0	1	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136402606	136402606	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr9:136402606C>T	ENST00000393061.3	+	3	929	c.497C>T	c.(496-498)aCg>aTg	p.T166M	ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.T57M|ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.T57M			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	57					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		ACCAAGTGGACGGCGTGTTCC	0.677000													34	16					0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202900796	202900796	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr2:202900796G>T	ENST00000286201.1	+	1	1487	c.1426G>T	c.(1426-1428)Gtg>Ttg	p.V476L		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	476					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CGTCTTCAGCGTGCTCTACAC	0.617000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	19					1.85244e-09	1.95492e-09	1	1	0
LZTS3	9762	broad.mit.edu	37	20	3147524	3147524	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr20:3147524A>T	ENST00000329152.3	-	1	1683	c.286T>A	c.(286-288)Tcc>Acc	p.S96T	LZTS3_ENST00000360342.3_Missense_Mutation_p.S96T|LZTS3_ENST00000337576.5_Missense_Mutation_p.S96T																							AGGTAGAGGGAGTTGGCGAGA	0.672000													6	22					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230398353	230398353	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:230398353G>A	ENST00000366672.4	+	12	1243	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000541865.1_Silent_p.*266*|GALNT2_ENST00000543760.1_Missense_Mutation_p.E353K|RP5-956O18.2_ENST00000440729.1_RNA	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	391					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CTGGATGGATGAATACAAAAA	0.428000													45	80					0	0	1	0	0
MBLAC1	255374	broad.mit.edu	37	7	99725577	99725577	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr7:99725577G>A	ENST00000398075.2	+	2	958	c.559G>A	c.(559-561)Gtg>Atg	p.V187M		NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	187							hydrolase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						TCTGGGCACCGTGGTGGTGGC	0.726000													4	5					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104753397	104753397	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr7:104753397C>T	ENST00000334877.4	+	26	5602	c.5068C>T	c.(5068-5070)Cat>Tat	p.H1690Y	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Missense_Mutation_p.H1732Y|KMT2E_ENST00000257745.4_Missense_Mutation_p.H1732Y					lysine (K)-specific methyltransferase 2E																		TTCTGGGCATCATACCACATC	0.537000													22	49					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25616267	25616267	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr15:25616267C>T	ENST00000232165.3	-	6	1710	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Missense_Mutation_p.E332K|UBE3A_ENST00000566215.1_Missense_Mutation_p.E332K|UBE3A_ENST00000438097.1_Missense_Mutation_p.E332K|UBE3A_ENST00000397954.2_Missense_Mutation_p.E355K	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	355					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTGTTAAATTCATTGCTTATG	0.378000													14	102					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1902579	1902579	+	Silent	SNP	C	C	T	rs140040537	byFrequency	TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr4:1902579C>T	ENST00000503128.1	+	2	405	c.198C>T	c.(196-198)aaC>aaT	p.N66N	WHSC1_ENST00000382895.3_Silent_p.N66N|WHSC1_ENST00000436793.1_Silent_p.N66N|WHSC1_ENST00000398261.1_Silent_p.N66N|WHSC1_ENST00000508803.1_Silent_p.N66N|WHSC1_ENST00000420906.2_Silent_p.N66N|WHSC1_ENST00000382891.5_Silent_p.N66N|WHSC1_ENST00000382892.2_Silent_p.N66N|WHSC1_ENST00000514045.1_Silent_p.N66N			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	66					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGAAGTTTAACGGCCACGACG	0.567000			T	IGH@	MM								5	72					0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58945407	58945407	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr19:58945407G>C	ENST00000254166.3	-	3	1804	c.1404C>G	c.(1402-1404)ttC>ttG	p.F468L		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	468						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		AGCTTTGGCTGAAGTCTCTTC	0.468000													22	65					0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71531816	71531816	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr12:71531816G>C	ENST00000393330.2	-	9	913	c.361C>G	c.(361-363)Ctc>Gtc	p.L121V	TSPAN8_ENST00000247829.3_Missense_Mutation_p.L121V|TSPAN8_ENST00000546561.1_Missense_Mutation_p.L121V|TSPAN8_ENST00000552128.1_Missense_Mutation_p.L38V			P19075	TSN8_HUMAN	tetraspanin 8	121					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TTTTCATAGAGAGTTTCATTC	0.328000													26	66					0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819479	50819479	+	Silent	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr10:50819479C>T	ENST00000374115.3	+	1	1133	c.693C>T	c.(691-693)ttC>ttT	p.F231F	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	231					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CCCCGCCCTTCGGGGGCATCC	0.642000													4	19					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67703715	67703715	+	Silent	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr12:67703715G>A	ENST00000545606.1	+	12	3497	c.3060G>A	c.(3058-3060)ttG>ttA	p.L1020L		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1020					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ACCCAGATTTGAATGTGAGAA	0.323000													23	45					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220348616	220348616	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr2:220348616G>A	ENST00000312358.7	+	30	6563	c.6431G>A	c.(6430-6432)cGa>cAa	p.R2144Q	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2144					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		cggcaccgccgagcgggggcg	0.726000													5	6					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47622879	47622879	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr16:47622879C>G	ENST00000455779.1	+	11	1098	c.913C>G	c.(913-915)Ctt>Gtt	p.L305V	PHKB_ENST00000323584.5_Missense_Mutation_p.L312V|PHKB_ENST00000299167.8_Missense_Mutation_p.L312V|PHKB_ENST00000566044.1_Missense_Mutation_p.L305V|PHKB_ENST00000567402.1_3'UTR			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	312					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TGATGAAGTTCTTTTTAGCCA	0.413000													18	21					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471522	47471522	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr12:47471522A>G	ENST00000266581.4	-	2	1730	c.1264T>C	c.(1264-1266)Tgc>Cgc	p.C422R	AMIGO2_ENST00000429635.1_Missense_Mutation_p.C422R|AMIGO2_ENST00000550413.1_Missense_Mutation_p.C422R|AMIGO2_ENST00000321382.3_Missense_Mutation_p.C422R	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	422					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)					TTGCAGGGGCATGGAGTCAGA	0.483000													8	24					0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53242650	53242650	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr12:53242650G>A	ENST00000304620.4	-	1	128	c.65C>T	c.(64-66)tCa>tTa	p.S22L		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	22	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GCGGCCCCTTGAGCGAGCAGA	0.647000													7	12					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48221197	48221197	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr16:48221197C>T	ENST00000394747.1	-	20	3197	c.2848G>A	c.(2848-2850)Gcc>Acc	p.A950T	ABCC11_ENST00000356608.2_Missense_Mutation_p.A950T|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.A950T|ABCC11_ENST00000353782.5_Missense_Mutation_p.A950T|ABCC11_ENST00000537808.1_3'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	950	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AACAGGACGGCGATCACCATT	0.463000													7	21					0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78755364	78755364	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr15:78755364G>C	ENST00000258886.8	+	3	356	c.207G>C	c.(205-207)tgG>tgC	p.W69C	IREB2_ENST00000560440.1_Missense_Mutation_p.W69C	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	69							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TTTTAGACTGGAAAACCAAAC	0.378000													32	30					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43546778	43546778	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr7:43546778G>C	ENST00000395891.2	+	22	4279	c.3674G>C	c.(3673-3675)aGa>aCa	p.R1225T	HECW1_ENST00000453890.1_Missense_Mutation_p.R1191T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			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						CCCTACCGAAGAGACTTTGAG	0.483000													19	37					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64421877	64421877	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr6:64421877C>G	ENST00000262043.3	+	16	4733	c.4393C>G	c.(4393-4395)Cct>Gct	p.P1465A	PHF3_ENST00000393387.1_Missense_Mutation_p.P1465A			Q92576	PHF3_HUMAN	PHD finger protein 3	1465					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAAACCTCTTCCTGTGGATGA	0.428000													32	47					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091303	143091303	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr6:143091303C>G	ENST00000367603.2	-	5	5315	c.4573G>C	c.(4573-4575)Gac>Cac	p.D1525H	HIVEP2_ENST00000367604.1_Missense_Mutation_p.D1525H|HIVEP2_ENST00000012134.2_Missense_Mutation_p.D1525H	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1525	Ser-rich.				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)		GAAGGATAGTCTTGAGATGAG	0.572000													7	34					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964899	88964899	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr7:88964899G>C	ENST00000333190.4	+	4	3212	c.2603G>C	c.(2602-2604)aGc>aCc	p.S868T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	868						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTGAATAAAAGCAAGAGAAAT	0.428000										HNSCC(36;0.09)			14	43					0	0	1	0	0
PPIE	10450	broad.mit.edu	37	1	40214601	40214601	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:40214601G>A	ENST00000324379.5	+	8	554	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	PPIE_ENST00000372830.1_Missense_Mutation_p.E179K|PPIE_ENST00000470213.1_Missense_Mutation_p.M137I|PPIE_ENST00000356511.2_Missense_Mutation_p.E179K	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	179	PPIase cyclophilin-type.				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTGCACTCATGAAAAGGGCTT	0.463000													11	55					0	0	1	0	0
ANKS3	124401	broad.mit.edu	37	16	4750782	4750782	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr16:4750782G>C	ENST00000450067.2	-	7	1165	c.855C>G	c.(853-855)ttC>ttG	p.F285L	ANKS3_ENST00000304283.4_Intron|ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000585773.1_Intron			Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	0										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GAACAGAGTAGAAGCGCTGCA	0.602000													13	11					0	0	1	0	0
FGF2	2247	broad.mit.edu	37	4	123813437	123813437	+	Silent	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr4:123813437G>A	ENST00000264498.3	+	3	821	c.753G>A	c.(751-753)agG>agA	p.R251R	FGF2_ENST00000608478.1_Silent_p.R118R|NUDT6_ENST00000608639.1_Intron	NM_002006.4	NP_001997	P09038	FGF2_HUMAN	fibroblast growth factor 2 (basic)	251					activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)	ACCGGTCAAGGAAATACACCA	0.373000													23	27					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183800087	183800087	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr2:183800087C>G	ENST00000361354.4	-	25	3084	c.2712G>C	c.(2710-2712)ttG>ttC	p.L904F	NCKAP1_ENST00000360982.2_Missense_Mutation_p.L910F|NCKAP1_ENST00000478449.1_5'UTR	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCATCCTCTTCAAGACACTGT	0.328000													14	41					0	0	1	0	0
SNAI1	6615	broad.mit.edu	37	20	48604460	48604460	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr20:48604460C>G	ENST00000244050.2	+	3	723	c.662C>G	c.(661-663)tCc>tGc	p.S221C		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	221					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GCTGACCGCTCCAACCTGCGG	0.637000													5	38					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44153669	44153669	+	Missense_Mutation	SNP	G	G	A	rs146155697		TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr7:44153669G>A	ENST00000223357.3	+	21	3591	c.3286G>A	c.(3286-3288)Gag>Aag	p.E1096K	AEBP1_ENST00000450684.2_Missense_Mutation_p.E671K	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1096	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GTTTGGGACCGAGGTGGAGCC	0.597000													17	35					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65396146	65396146	+	Silent	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr11:65396146C>T	ENST00000355703.3	+	23	4322	c.3783C>T	c.(3781-3783)caC>caT	p.H1261H		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1261						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGGCTTTCCACGCTTTTGCCC	0.657000													6	19					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26515956	26515956	+	Missense_Mutation	SNP	C	C	A	rs1045105	byFrequency	TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:26515956C>A	ENST00000531191.1	+	20	2292	c.1285C>A	c.(1285-1287)Cac>Aac	p.H429N	CNKSR1_ENST00000374253.5_Missense_Mutation_p.H694N|CNKSR1_ENST00000361530.6_Missense_Mutation_p.H687N			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	694	PH.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	p.H687Y(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGTCCCCCCACTCCCTGCC	0.637000													4	43					0.000602214	0.000612087	1	1	0
ACACA	31	broad.mit.edu	37	17	35603883	35603883	+	Silent	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr17:35603883G>A	ENST00000353139.5	-	19	2800	c.2319C>T	c.(2317-2319)atC>atT	p.I773I	ACACA_ENST00000360679.3_Silent_p.I678I|ACACA_ENST00000335166.5_Silent_p.I658I|ACACA_ENST00000394406.2_Silent_p.I736I	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	736	Biotinyl-binding.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGCCAATTGTGATGCGATATC	0.403000													14	47					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21495285	21495285	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr18:21495285A>T	ENST00000313654.9	+	59	7918	c.7677A>T	c.(7675-7677)aaA>aaT	p.K2559N	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.K894N|LAMA3_ENST00000399516.3_Missense_Mutation_p.K2503N|LAMA3_ENST00000269217.6_Missense_Mutation_p.K950N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2559	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCATACAAAGGTTGTATTG	0.333000													6	38					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101200313	101200313	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:101200313T>C	ENST00000294728.2	+	8	2149	c.2048T>C	c.(2047-2049)cTt>cCt	p.L683P	VCAM1_ENST00000370115.1_Missense_Mutation_p.L484P|VCAM1_ENST00000347652.2_Missense_Mutation_p.L591P|VCAM1_ENST00000370119.4_Missense_Mutation_p.L621P	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	683	Ig-like C2-type 7.				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)	AGTTTAACACTTGATGTTCAA	0.373000													20	19					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113192631	113192631	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr9:113192631C>A	ENST00000401783.2	-	33	5789	c.5453G>T	c.(5452-5454)gGa>gTa	p.G1818V	SVEP1_ENST00000374469.1_Missense_Mutation_p.G1795V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1818	Sushi 7.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAACTGGTATCCTTCCTGACA	0.403000													3	17					0.115264	0.115264	1	1	0
ZHX2	22882	broad.mit.edu	37	8	123965696	123965696	+	Missense_Mutation	SNP	G	G	C	rs35319449		TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr8:123965696G>C	ENST00000314393.4	+	3	2781	c.1946G>C	c.(1945-1947)aGa>aCa	p.R649T		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	649			R -> K (in dbSNP:rs35319449).			cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			ACGTTTGCAAGAACCCAGTGG	0.542000													12	58					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36691645	36691645	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr22:36691645C>G	ENST00000216181.5	-	26	3621	c.3391G>C	c.(3391-3393)Gag>Cag	p.E1131Q		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1131					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTCTGCTTCTCAGCTTTATTC	0.547000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				3	12					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11068043	11068043	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr3:11068043C>G	ENST00000287766.4	+	10	1497	c.1076C>G	c.(1075-1077)tCa>tGa	p.S359*	SLC6A1_ENST00000536032.1_Nonsense_Mutation_p.S181*	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	359					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GTGGCGGCCTCAGGTCAGTGC	0.572000													3	32					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14502747	14502747	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr5:14502747G>A	ENST00000344204.4	+	54	8416	c.8392G>A	c.(8392-8394)Gaa>Aaa	p.E2798K	TRIO_ENST00000537187.1_Missense_Mutation_p.E2622K|TRIO_ENST00000344135.5_Missense_Mutation_p.E297K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2798	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTTCTACAGTGAAGTGGCTGA	0.527000													13	35					0	0	1	0	0
AADAT	51166	broad.mit.edu	37	4	171009579	171009579	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr4:171009579C>T	ENST00000337664.4	-	2	480	c.204G>A	c.(202-204)atG>atA	p.M68I	AADAT_ENST00000353187.2_Missense_Mutation_p.M68I|AADAT_ENST00000515480.1_Missense_Mutation_p.M68I|AADAT_ENST00000509167.1_Missense_Mutation_p.M72I	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	68					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GTGCTCTCTTCATCATCTCTT	0.373000													20	24					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139342332	139342332	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr9:139342332C>G	ENST00000313050.7	-	23	6493	c.6420G>C	c.(6418-6420)tgG>tgC	p.W2140C	SEC16A_ENST00000371706.3_Missense_Mutation_p.W1962C|SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000313084.5_Missense_Mutation_p.W146C|SEC16A_ENST00000290037.6_Missense_Mutation_p.W1962C|SEC16A_ENST00000431893.2_Missense_Mutation_p.W1962C	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1962	Required for interaction with SEC23A.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTAAATTCACCCACTGGTTTT	0.408000													5	3					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164751199	164751199	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr3:164751199G>A	ENST00000264382.3	-	23	2611	c.2549C>T	c.(2548-2550)aCa>aTa	p.T850I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	850	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AACTGAAAATGTATATAATAT	0.274000										HNSCC(35;0.089)			3	12					0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67637075	67637075	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr2:67637075G>A	ENST00000272342.5	+	6	2816	c.2686G>A	c.(2686-2688)Gaa>Aaa	p.E896K		NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	896						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GTGTTCTCCTGAAGAAATTCA	0.338000													33	44					0	0	1	0	0
GPR101	83550	broad.mit.edu	37	X	136113450	136113450	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chrX:136113450A>T	ENST00000298110.1	-	1	383	c.384T>A	c.(382-384)gaT>gaA	p.D128E		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	128						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					ACAAGTAGCGATCCACTGACA	0.597000													5	19					0	0	1	0	0
C21orf62	56245	broad.mit.edu	37	21	34166208	34166208	+	Silent	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr21:34166208G>A	ENST00000536776.1	-	2	665	c.525C>T	c.(523-525)ttC>ttT	p.F175F	C21orf49_ENST00000382375.4_Intron|C21orf49_ENST00000382378.1_Intron|C21orf62_ENST00000479548.1_Silent_p.F175F|C21orf49_ENST00000382377.3_Intron|C21orf62_ENST00000490358.1_Silent_p.F175F|C21orf62_ENST00000487113.1_Silent_p.F175F|C21orf49_ENST00000453404.1_Intron|C21orf49_ENST00000477513.1_Intron	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	175										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				AGTCCCTGTTGAAAAGAGCCA	0.428000													18	22					0	0	1	0	0
ISG20L2	81875	broad.mit.edu	37	1	156696939	156696939	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:156696939G>A	ENST00000313146.6	-	1	1288	c.506C>T	c.(505-507)tCc>tTc	p.S169F	ISG20L2_ENST00000368219.1_Missense_Mutation_p.S169F	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	169					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGATGCTCCGGAGCATTTATT	0.498000											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	51					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8633417	8633417	+	Missense_Mutation	SNP	T	T	C	rs111386968		TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr9:8633417T>C	ENST00000381196.4	-	11	795	c.252A>G	c.(250-252)atA>atG	p.I84M	PTPRD_ENST00000540109.1_Missense_Mutation_p.I84M|PTPRD_ENST00000360074.4_Missense_Mutation_p.I84M|PTPRD_ENST00000397611.3_Missense_Mutation_p.I84M|PTPRD_ENST00000356435.5_Missense_Mutation_p.I84M|PTPRD_ENST00000486161.1_Missense_Mutation_p.I84M|PTPRD_ENST00000537002.1_Missense_Mutation_p.I84M|PTPRD_ENST00000397606.3_Missense_Mutation_p.I84M|PTPRD_ENST00000397617.3_Missense_Mutation_p.I84M|PTPRD_ENST00000355233.5_Missense_Mutation_p.I84M|PTPRD_ENST00000463477.1_Missense_Mutation_p.I84M|PTPRD_ENST00000358503.5_Missense_Mutation_p.I84M	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	84	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTAAGGGTTGTATTCTGAGAA	0.438000										TSP Lung(15;0.13)			23	29					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72498682	72498682	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr10:72498682G>C	ENST00000373208.1	+	11	1693	c.1693G>C	c.(1693-1695)Ggg>Cgg	p.G565R	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.G562R	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	562	TSP type-1 1.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GACCAAGTTTGGGTCATGTTC	0.632000													10	13					0	0	1	0	0
CAB39	51719	broad.mit.edu	37	2	231682512	231682512	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr2:231682512T>C	ENST00000258418.5	+	8	1166	c.737T>C	c.(736-738)aTg>aCg	p.M246T	CAB39_ENST00000410084.3_Missense_Mutation_p.M246T|CAB39_ENST00000409788.3_Missense_Mutation_p.M246T	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	246					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		TTCACAATTATGACAAAATAC	0.343000													17	13					0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38050815	38050815	+	Silent	SNP	G	G	A	rs115787371	byFrequency	TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr3:38050815G>A	ENST00000463876.1	-	10	1970	c.1617C>T	c.(1615-1617)taC>taT	p.Y539Y	PLCD1_ENST00000334661.4_Silent_p.Y518Y	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	518	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		ACGCCATCTCGTAGAAGGCCT	0.567000													4	54					0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107867418	107867418	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:107867418G>C	ENST00000370067.1	+	3	1388	c.761G>C	c.(760-762)aGa>aCa	p.R254T	NTNG1_ENST00000370070.2_Missense_Mutation_p.R254T|NTNG1_ENST00000542803.1_Missense_Mutation_p.R254T|NTNG1_ENST00000370074.4_Missense_Mutation_p.R254T|NTNG1_ENST00000370066.1_Missense_Mutation_p.R254T|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370071.2_Missense_Mutation_p.R254T|NTNG1_ENST00000370072.3_Missense_Mutation_p.R254T|NTNG1_ENST00000370068.1_Missense_Mutation_p.R254T|NTNG1_ENST00000370073.2_Missense_Mutation_p.R254T|NTNG1_ENST00000370061.3_Missense_Mutation_p.R254T|NTNG1_ENST00000370065.1_Missense_Mutation_p.R254T			Q9Y2I2	NTNG1_HUMAN	netrin G1	254	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AAGAAACTCAGAGATTTCTTT	0.463000													31	15					0	0	1	0	0
ABI3	51225	broad.mit.edu	37	17	47295121	47295121	+	Silent	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr17:47295121G>A	ENST00000225941.1	+	3	804	c.306G>A	c.(304-306)gaG>gaA	p.E102E	ABI3_ENST00000419580.2_Silent_p.E96E	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3	102					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TGCATATGGAGAAGGTGGCCC	0.592000										HNSCC(55;0.14)			8	41					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413767	105413767	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr14:105413767G>C	ENST00000333244.5	-	7	8140	c.8021C>G	c.(8020-8022)tCt>tGt	p.S2674C	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2674						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTCAGCTCAGACACATCCAC	0.562000													86	92					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155686	22155686	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr19:22155686C>G	ENST00000397126.4	-	4	2298	c.2150G>C	c.(2149-2151)gGa>gCa	p.G717A	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGGTTTCTCTCCAGTATGAAT	0.373000													11	21					0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39785441	39785441	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr8:39785441C>T	ENST00000518237.1	+	10	1588	c.949C>T	c.(949-951)Cgt>Tgt	p.R317C	IDO1_ENST00000522495.1_Missense_Mutation_p.R317C|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	317					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	TCCCTCAGTCCGTGAGTTTGT	0.502000													6	5					0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38556186	38556186	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr17:38556186G>T	ENST00000423485.1	-	24	3292	c.3134C>A	c.(3133-3135)tCt>tAt	p.S1045Y		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1045					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CAGTTTAGCAGATTCAGCACC	0.333000													6	20					2.7689e-08	2.90969e-08	1	1	0
HMCN1	83872	broad.mit.edu	37	1	185969307	185969307	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:185969307G>C	ENST00000271588.4	+	26	4234	c.4005G>C	c.(4003-4005)gaG>gaC	p.E1335D	HMCN1_ENST00000367492.2_Missense_Mutation_p.E1335D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1335	Ig-like C2-type 10.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACAATGGGGAGTACATCTGTG	0.423000													10	36					0	0	1	0	0
MBLAC1	255374	broad.mit.edu	37	7	99725124	99725124	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr7:99725124G>A	ENST00000398075.2	+	2	505	c.106G>A	c.(106-108)Gat>Aat	p.D36N		NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	36							hydrolase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						GGGTGTGGGCGATGCCGTGCG	0.741000													8	10					0	0	1	0	0
C19orf18	147685	broad.mit.edu	37	19	58472896	58472896	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr19:58472896C>G	ENST00000314391.3	-	5	496	c.395G>C	c.(394-396)aGa>aCa	p.R132T		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	132						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		GAGCTGTTGTCTTTCCTCAGC	0.433000													37	29					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263328	39263328	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr13:39263328A>C	ENST00000280481.7	+	1	2063	c.1847A>C	c.(1846-1848)cAc>cCc	p.H616P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	616					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CGCCAAACTCACCCTCCCCAT	0.517000													10	21					0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19648434	19648434	+	Silent	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr17:19648434C>T	ENST00000457500.2	-	1	338	c.9G>A	c.(7-9)aaG>aaA	p.K3K	ALDH3A1_ENST00000485231.1_Intron|ALDH3A1_ENST00000444455.1_Silent_p.K3K|ALDH3A1_ENST00000494157.2_Intron|ALDH3A1_ENST00000395555.3_Silent_p.K3K|ALDH3A1_ENST00000225740.6_Silent_p.K3K	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	3					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CCTCGCTGATCTTGCTCATGG	0.682000													4	6					0	0	1	0	0
TRAFD1	10906	broad.mit.edu	37	12	112578797	112578797	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr12:112578797G>C	ENST00000257604.5	+	5	1029	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	TRAFD1_ENST00000412615.2_Missense_Mutation_p.E138Q	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	138				E -> V (in Ref. 2; BAF84020).	negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						TTGTGGGAGAGAGGGGGAGGA	0.478000													18	43					0	0	1	0	0
WNT16	51384	broad.mit.edu	37	7	120969787	120969787	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr7:120969787G>T	ENST00000222462.2	+	2	552	c.262G>T	c.(262-264)Gag>Tag	p.E88*	WNT16_ENST00000361301.2_Nonsense_Mutation_p.E78*	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	88					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GTTCAGACACGAGAGATGGAA	0.657000													9	21					2.17888e-05	2.24216e-05	1	1	0
HLA-DPA1	3113	broad.mit.edu	37	6	33036806	33036806	+	Silent	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr6:33036806G>C	ENST00000419277.1	-	4	747	c.618C>G	c.(616-618)ctC>ctG	p.L206L	HLA-DPA1_ENST00000428995.1_Silent_p.L206L	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	206	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CCCAGTGCTTGAGGAGCGGCT	0.542000													25	58					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131351151	131351151	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr9:131351151C>T	ENST00000372739.3	+	21	3045	c.2935C>T	c.(2935-2937)Cag>Tag	p.Q979*	SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.Q979*|SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.Q979*	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	979	SH3.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CTACGACTATCAGGAGAAGAG	0.498000													38	11					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220431681	220431681	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr2:220431681G>A	ENST00000404537.1	-	5	2061	c.2005C>T	c.(2005-2007)Cgg>Tgg	p.R669W	OBSL1_ENST00000289656.3_Missense_Mutation_p.R256W|OBSL1_ENST00000603926.1_Missense_Mutation_p.R669W|OBSL1_ENST00000265318.4_Missense_Mutation_p.R669W|OBSL1_ENST00000373873.4_Missense_Mutation_p.R669W|OBSL1_ENST00000373876.1_Missense_Mutation_p.R669W	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	669					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ATACGGTACCGCAGGGCCCCA	0.617000													7	17					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38796008	38796008	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr6:38796008G>A	ENST00000359357.3	+	28	3735	c.3481G>A	c.(3481-3483)Gaa>Aaa	p.E1161K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E1161K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E1378K					dynein, axonemal, heavy chain 8											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						AACCAAAGAAGAATCAGAAGC	0.338000													6	36					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37264523	37264523	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr7:37264523T>C	ENST00000310758.4	-	9	1309	c.662A>G	c.(661-663)cAg>cGg	p.Q221R	ELMO1_ENST00000442504.1_Missense_Mutation_p.Q221R|ELMO1_ENST00000448602.1_Missense_Mutation_p.Q221R	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	221					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGTGATCTCCTGCGCCACTTT	0.537000													19	41					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75838090	75838090	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr6:75838090C>T	ENST00000322507.8	-	38	6571	c.6262G>A	c.(6262-6264)Gac>Aac	p.D2088N	COL12A1_ENST00000416123.2_Missense_Mutation_p.D2088N|COL12A1_ENST00000483888.2_Missense_Mutation_p.D2088N|COL12A1_ENST00000345356.6_Missense_Mutation_p.D924N	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2088	Fibronectin type-III 16.				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						TATGGAGTGTCAGGTTGCAGG	0.393000													9	40					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146806995	146806995	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr4:146806995C>T	ENST00000508784.1	-	4	1809	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	ZNF827_ENST00000379448.4_Missense_Mutation_p.E528K|ZNF827_ENST00000513320.1_Missense_Mutation_p.E178K			Q17R98	ZN827_HUMAN	zinc finger protein 827	528					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)					CCGTTATCTTCCTTGGGTTCC	0.577000													14	25					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87029361	87029361	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:87029361G>A	ENST00000370563.3	+	4	508	c.466G>A	c.(466-468)Gag>Aag	p.E156K	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	156						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GTTTGTCCATGAGTGGGCTCA	0.403000													25	11					0	0	1	0	0
DCUN1D2	55208	broad.mit.edu	37	13	114138263	114138263	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr13:114138263C>G	ENST00000478244.1	-	2	394	c.112G>C	c.(112-114)Gac>Cac	p.D38H	DCUN1D2_ENST00000460318.1_5'UTR|DCUN1D2_ENST00000332592.3_Intron|DCUN1D2_ENST00000375399.2_Missense_Mutation_p.D38H	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	38	UBA-like.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			GTGGCCTCGTCTAGTCTCCAC	0.552000													28	43					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													3	30					0.004672	0.00470998	1	1	0
KRT73	319101	broad.mit.edu	37	12	53005039	53005039	+	Silent	SNP	C	C	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr12:53005039C>A	ENST00000305748.3	-	6	1093	c.1059G>T	c.(1057-1059)ctG>ctT	p.L353L	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	353	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGAGACGGGTCAGCTCTGAGA	0.537000													7	23					0.000157383	0.000161285	1	1	0
CYP2S1	29785	broad.mit.edu	37	19	41712222	41712222	+	Silent	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr19:41712222G>A	ENST00000310054.4	+	9	1560	c.1344G>A	c.(1342-1344)gcG>gcA	p.A448A	CYP2S1_ENST00000542619.1_Silent_p.A173A	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	448					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						TGGCAAAAGCGGAGCTCTTCC	0.622000													35	74					0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89934618	89934618	+	Silent	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr16:89934618C>T	ENST00000378247.3	+	13	1843	c.1800C>T	c.(1798-1800)agC>agT	p.S600S	SPIRE2_ENST00000393062.2_Intron	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	600					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CTTCCTGTAGCATAAAGGTGA	0.557000													8	26					0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11052945	11052945	+	Silent	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr2:11052945G>A	ENST00000295082.1	+	1	883	c.393G>A	c.(391-393)ctG>ctA	p.L131L		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	131						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AGAGCCACCTGAGCGAGAAGC	0.637000													11	25					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94953706	94953706	+	Silent	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr14:94953706C>T	ENST00000341228.2	-	6	1974	c.1179G>A	c.(1177-1179)ctG>ctA	p.L393L	SERPINA12_ENST00000556881.1_Silent_p.L393L	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	393					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CGCTGTAAATCAGCAGCAGAT	0.512000													11	51					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38794053	38794053	+	Silent	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr6:38794053G>A	ENST00000359357.3	+	27	3572	c.3318G>A	c.(3316-3318)ttG>ttA	p.L1106L	DNAH8_ENST00000441566.1_Silent_p.L1106L|DNAH8_ENST00000449981.2_Silent_p.L1323L					dynein, axonemal, heavy chain 8									p.L1106F(2)		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						ATGAATACTTGAAAAAGTTAT	0.343000													10	49					0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155025187	155025187	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:155025187G>A	ENST00000447332.3	+	3	184	c.149G>A	c.(148-150)cGa>cAa	p.R50Q	ADAM15_ENST00000368412.3_Silent_p.P40P|ADAM15_ENST00000359280.4_Silent_p.P40P|ADAM15_ENST00000368413.1_Silent_p.P40P|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000356955.2_Silent_p.P40P|ADAM15_ENST00000355956.2_Silent_p.P40P|ADAM15_ENST00000449910.2_Silent_p.P40P|ADAM15_ENST00000271836.6_Silent_p.P40P|ADAM15_ENST00000368410.2_Silent_p.P40P|ADAM15_ENST00000360674.4_Silent_p.P40P|ADAM15_ENST00000531455.1_Silent_p.P50P	NM_001261466.1	NP_001248395.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	41					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGAAGGCCCCGAGGGAGCCCT	0.577000											OREG0013847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	6					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799611	212799611	+	Silent	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:212799611C>T	ENST00000294829.3	+	1	1823	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	464										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGTCCTCATTCAGCCACAGAG	0.572000													17	18					0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11022349	11022349	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr7:11022349A>G	ENST00000403050.3	+	3	915	c.463A>G	c.(463-465)Aca>Gca	p.T155A	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	155							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		CACACCAGCCACAAGTCCTCC	0.468000													8	18					0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40757594	40757594	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr15:40757594G>C	ENST00000561234.1	+	6	2369	c.2110G>C	c.(2110-2112)Gag>Cag	p.E704Q	BAHD1_ENST00000416165.1_Missense_Mutation_p.E705Q|BAHD1_ENST00000560846.1_Missense_Mutation_p.E702Q|RP11-64K12.8_ENST00000559730.1_RNA			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	705	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GGCCTGCATTGAGGAGAAGTG	0.552000													12	15					0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6096680	6096680	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr20:6096680C>G	ENST00000217289.4	-	3	951	c.163G>C	c.(163-165)Gac>Cac	p.D55H	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	55					cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TCTGACCAGTCTTGGGATATA	0.478000													10	22					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172048497	172048497	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr3:172048497G>A	ENST00000336824.4	+	13	1645	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	FNDC3B_ENST00000416957.1_Missense_Mutation_p.D516N|FNDC3B_ENST00000415807.2_Missense_Mutation_p.D516N	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	516	Fibronectin type-III 3.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AATTCAGGAGGATGAAAATGT	0.433000													22	14					0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28488866	28488866	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr16:28488866G>C	ENST00000569430.1	-	17	2107	c.1288C>G	c.(1288-1290)Ctg>Gtg	p.L430V	CLN3_ENST00000357806.7_Missense_Mutation_p.L331V|CLN3_ENST00000535392.1_Missense_Mutation_p.L352V|CLN3_ENST00000333496.9_Missense_Mutation_p.L406V|CLN3_ENST00000568224.1_Missense_Mutation_p.L352V|CLN3_ENST00000359984.7_Missense_Mutation_p.L430V|CLN3_ENST00000565316.1_Missense_Mutation_p.L413V|CLN3_ENST00000355477.5_Missense_Mutation_p.L382V|CLN3_ENST00000395653.4_Missense_Mutation_p.L330V|CLN3_ENST00000567963.1_Missense_Mutation_p.L333V|CLN3_ENST00000360019.2_Missense_Mutation_p.L430V|CLN3_ENST00000354630.5_Missense_Mutation_p.L413V|CLN3_ENST00000357857.9_Missense_Mutation_p.L376V			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	430					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						AAGTCATGCAGAGGCAAAGCC	0.617000													24	37					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589852	156589852	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr5:156589852T>C	ENST00000302938.4	-	2	1519	c.1424A>G	c.(1423-1425)aAc>aGc	p.N475S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	475						nucleus				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)			ATCTCTCGTGTTTTTATGGCC	0.527000													29	44					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16902336	16902336	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr19:16902336A>G	ENST00000524140.2	+	14	3534	c.3116A>G	c.(3115-3117)cAt>cGt	p.H1039R	NWD1_ENST00000552788.1_Missense_Mutation_p.H1039R|NWD1_ENST00000379808.3_Missense_Mutation_p.H1039R|NWD1_ENST00000339803.6_Missense_Mutation_p.H904R|NWD1_ENST00000549814.1_Missense_Mutation_p.H1039R|NWD1_ENST00000523826.1_Missense_Mutation_p.H833R	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1039							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						GGGAAGCAACATATGTCCAGC	0.532000													14	40					0	0	1	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11855861	11855861	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr16:11855861C>T	ENST00000396516.2	-	17	2315	c.2118G>A	c.(2116-2118)atG>atA	p.M706I	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.M706I			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	706						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						ACTTTATCTTCATATTAAGAA	0.328000													6	17					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204002917	204002917	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr2:204002917C>G	ENST00000449802.1	+	29	4844	c.4511C>G	c.(4510-4512)tCa>tGa	p.S1504*		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1504							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGGGCAATCTCAGAAAACAGA	0.368000													11	15					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33134246	33134246	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr19:33134246G>A	ENST00000306065.4	-	8	810	c.652C>T	c.(652-654)Cat>Tat	p.H218Y	ANKRD27_ENST00000587352.1_Missense_Mutation_p.H218Y	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	218					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.H218D(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TAAATTTCATGATGGACGTAT	0.522000													68	106					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82941441	82941441	+	Silent	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr6:82941441G>A	ENST00000306270.7	-	4	1086	c.537C>T	c.(535-537)atC>atT	p.I179I	IBTK_ENST00000503631.1_Silent_p.I179I|IBTK_ENST00000510291.1_Silent_p.I179I	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	179					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ATACCTGCTTGATATAAATCC	0.363000													19	43					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148012531	148012531	+	Silent	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:148012531C>T	ENST00000369219.1	-	12	1444	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5.					cytoplasm		p.K476K(2)|p.K476N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGCCAACATGCTTTTCCTCCA	0.443000													4	14					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96006247	96006247	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr10:96006247G>A	ENST00000371380.3	+	7	3200	c.2965G>A	c.(2965-2967)Gtg>Atg	p.V989M	PLCE1_ENST00000260766.3_Missense_Mutation_p.V989M|PLCE1_ENST00000371375.1_Missense_Mutation_p.V681M|PLCE1_ENST00000371385.3_Missense_Mutation_p.V681M			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						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|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATTGCACTTCGTGGCACCAAA	0.463000													28	40					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79403928	79403928	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:79403928C>G	ENST00000370742.3	-	5	496	c.433G>C	c.(433-435)Gaa>Caa	p.E145Q		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	145					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTATAGACTTCTTGTAGCAAA	0.308000													13	17					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48695256	48695256	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr17:48695256C>T	ENST00000352832.5	+	28	5462	c.5090C>T	c.(5089-5091)gCg>gTg	p.A1697V	CACNA1G_ENST00000503485.1_Missense_Mutation_p.A1697V|CACNA1G_ENST00000515411.1_Missense_Mutation_p.A1713V|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A1720V|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A1731V|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A1708V|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A1679V|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A1674V|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A1686V|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A1697V|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A1690V|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A1708V|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A1697V|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A1697V|CACNA1G_ENST00000514079.1_Missense_Mutation_p.A1738V|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A1713V|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A1731V|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A1731V|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A1720V|CACNA1G_ENST00000513689.2_Missense_Mutation_p.A1686V|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A1713V|CACNA1G_ENST00000359106.5_Missense_Mutation_p.A1731V|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A1731V|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A1720V|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A1720V	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1731					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.A1731V(2)|p.A1697V(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGCATGCGGGCGCTGCTGGAC	0.652000													8	37					0	0	1	0	0
SUMO3	6612	broad.mit.edu	37	21	46233868	46233868	+	Missense_Mutation	SNP	T	T	C	rs147549284	by1000genomes	TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr21:46233868T>C	ENST00000411651.2	-	2	285	c.173A>G	c.(172-174)cAg>cGg	p.Q58R	SUMO3_ENST00000397893.3_Intron|SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000332859.6_Intron|SUMO3_ENST00000397898.3_Intron			P55854	SUMO3_HUMAN	small ubiquitin-like modifier 3	50	Ubiquitin-like.				protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		GGGGAGGCTCTGCGGGGGAGC	0.662000													3	34					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28772901	28772901	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr17:28772901G>C	ENST00000225719.4	+	12	2812	c.2736G>C	c.(2734-2736)gaG>gaC	p.E912D	CPD_ENST00000543464.2_Missense_Mutation_p.E665D	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	912	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TTTCAGCGGAGAATGGTTTGG	0.423000													4	36					0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59182515	59182515	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr15:59182515C>T	ENST00000380516.2	-	15	2131	c.2044G>A	c.(2044-2046)Gaa>Aaa	p.E682K	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Missense_Mutation_p.E251K	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	682	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCCAAGCGTTCGCGTTCCATT	0.423000													31	36					0	0	1	0	0
EFCAB1	79645	broad.mit.edu	37	8	49643103	49643103	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr8:49643103C>G	ENST00000433756.1	-	2	318	c.159G>C	c.(157-159)atG>atC	p.M53I	EFCAB1_ENST00000523092.1_Missense_Mutation_p.M53I|EFCAB1_ENST00000262103.3_Missense_Mutation_p.M105I|EFCAB1_ENST00000521002.1_Intron	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	105							calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TCTTACATTTCATTTTTTCTT	0.343000													9	14					0	0	1	0	0
TRPV2	51393	broad.mit.edu	37	17	16321139	16321139	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr17:16321139C>G	ENST00000338560.7	+	2	556	c.157C>G	c.(157-159)Cag>Gag	p.Q53E	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	53	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATTCGCCCCTCAGATAAGAGT	0.607000													6	10					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108165783	108165783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr11:108165783C>T	ENST00000278616.4	+	32	5291	c.4906C>T	c.(4906-4908)Cag>Tag	p.Q1636*	ATM_ENST00000452508.2_Nonsense_Mutation_p.Q1636*	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1636					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAGAGCTTCTCAGGGTGCTAA	0.368000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			15	28					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157548317	157548317	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:157548317C>T	ENST00000271532.1	-	10	1511	c.1376G>A	c.(1375-1377)gGa>gAa	p.G459E	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	459						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TACCAAATCTCCCTTTTTGGG	0.418000													8	19					0	0	1	0	0
AUP1	550	broad.mit.edu	37	2	74753938	74753938	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr2:74753938C>G	ENST00000377526.3	-	12	1531	c.1222G>C	c.(1222-1224)Gag>Cag	p.E408Q		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	474						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						CAGTCAGCCTCCTGGGCTCGT	0.552000													16	30					0	0	1	0	0
POGLUT1	56983	broad.mit.edu	37	3	119205696	119205696	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr3:119205696G>C	ENST00000295588.4	+	7	739	c.655G>C	c.(655-657)Gat>Cat	p.D219H		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	219						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TCCAGAACGAGATCCTCTCAT	0.418000													33	89					0	0	1	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239307510	239307510	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr2:239307510G>C	ENST00000373327.4	+	17	2248	c.2026G>C	c.(2026-2028)Gaa>Caa	p.E676Q	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.E676Q|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.E610Q	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	676	DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		CAAGAATGAAGAAAAAATCCA	0.423000													13	19					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76490165	76490165	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr17:76490165G>A	ENST00000389840.5	-	41	6443	c.6319C>T	c.(6319-6321)Cgc>Tgc	p.R2107C	DNAH17_ENST00000585328.1_Missense_Mutation_p.R2116C|RP11-559N14.5_ENST00000585969.1_RNA|RP11-559N14.5_ENST00000591373.1_RNA					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACGGAGTGGCGGACCTGCAGC	0.637000													5	9					0	0	1	0	0
GK	2710	broad.mit.edu	37	X	30712535	30712535	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chrX:30712535C>G	ENST00000378943.3	+	6	612	c.433C>G	c.(433-435)Ctt>Gtt	p.L145V	GK_ENST00000378946.3_Missense_Mutation_p.L145V|GK_ENST00000427190.1_5'UTR|GK_ENST00000378945.3_Missense_Mutation_p.L145V	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	145					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						AGGCCTTCCACTTAGCACTTA	0.383000													21	6					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124810338	124810338	+	Silent	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr8:124810338C>T	ENST00000334705.7	+	16	1666	c.1420C>T	c.(1420-1422)Ctg>Ttg	p.L474L	FAM91A1_ENST00000521166.1_Silent_p.L474L	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	474										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AGGTTTTCCTCTGGATCTCTT	0.403000													110	130					0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165378494	165378494	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr2:165378494G>C	ENST00000263915.3	-	6	1350	c.812C>G	c.(811-813)tCa>tGa	p.S271*	GRB14_ENST00000543549.1_Nonsense_Mutation_p.S184*	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	271	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						ATTTACCTTTGATGTTCCTTT	0.294000													11	28					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37198582	37198582	+	Missense_Mutation	SNP	C	C	T	rs142678293	byFrequency	TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr20:37198582C>T	ENST00000262879.6	+	27	4290	c.4006C>T	c.(4006-4008)Ccc>Tcc	p.P1336S	RALGAPB_ENST00000397038.1_Missense_Mutation_p.P1115S|RALGAPB_ENST00000397042.3_Missense_Mutation_p.P1333S|RALGAPB_ENST00000397040.1_Missense_Mutation_p.P1336S			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1336	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCCTGTTCCTCCCCTTGGACC	0.453000													3	27					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6621769	6621769	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr4:6621769G>C	ENST00000285599.3	+	18	2966	c.2930G>C	c.(2929-2931)aGa>aCa	p.R977T	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R926T	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	977					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GGCCGCCACAGAGGTTTGGGG	0.677000													3	5					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121568216	121568216	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr7:121568216C>T	ENST00000393386.2	+	2	476	c.65C>T	c.(64-66)gCt>gTt	p.A22V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.A22V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	22					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATAGATTGGGCTAATGGATAC	0.294000													21	61					0	0	1	0	0
LGALS14	56891	broad.mit.edu	37	19	40197836	40197836	+	Silent	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr19:40197836G>A	ENST00000392052.3	+	3	334	c.111G>A	c.(109-111)gaG>gaA	p.E37E	LGALS14_ENST00000360675.3_Silent_p.E66E	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	37	Galectin.					nucleus	sugar binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			CACAGCTGGAGGTGAATTTCT	0.512000													21	52					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23197757	23197757	+	Silent	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr16:23197757C>T	ENST00000300061.2	+	2	308	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	55					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GCCGCCTCCTCTGGATCGGGT	0.602000													15	16					0	0	1	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101573954	101573954	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr3:101573954G>T	ENST00000326172.5	+	7	1607	c.1492G>T	c.(1492-1494)Gat>Tat	p.D498Y	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.D376Y|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.D398Y	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	498	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CATTGTGCAGGATCTGGTGAA	0.488000													10	36					2.17888e-05	2.24216e-05	1	1	0
UBD	10537	broad.mit.edu	37	6	29523936	29523936	+	Silent	SNP	G	G	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr6:29523936G>T	ENST00000377050.4	-	2	442	c.219C>A	c.(217-219)acC>acA	p.T73T	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	73	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TAAGGTGGATGGTCTTCTCTT	0.522000													8	26					5.18039e-06	5.37547e-06	1	1	0
ABCC6P1	653190	broad.mit.edu	37	16	18584376	18584376	+	RNA	SNP	C	C	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr16:18584376C>A	ENST00000546162.2	+	0	302					NR_003569.1																						TCTTCAAAGCCAAGATGGTAG	0.597000													4	4					0.00909568	0.0091325	1	1	0
LIPE	3991	broad.mit.edu	37	19	42914612	42914612	+	Silent	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr19:42914612G>C	ENST00000244289.4	-	2	1542	c.1266C>G	c.(1264-1266)ctC>ctG	p.L422L	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE_ENST00000602000.1_Intron	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	422					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CCAGAGCGCGGAGCTGGGTGA	0.657000													8	35					0	0	1	0	0
HLA-DPA1	3113	broad.mit.edu	37	6	33036864	33036864	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr6:33036864G>A	ENST00000419277.1	-	4	689	c.560C>T	c.(559-561)tCa>tTa	p.S187L	HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.S187L	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	187	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						GTCCTCTGCTGAGGGCACAAA	0.552000													29	76					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16949662	16949662	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr10:16949662C>G	ENST00000377833.4	-	49	7615	c.7550G>C	c.(7549-7551)aGa>aCa	p.R2517T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2517	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAGTTACTTCTAATGCCATT	0.393000													19	44					0	0	1	0	0
TTLL1	25809	broad.mit.edu	37	22	43442529	43442529	+	Silent	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr22:43442529G>C	ENST00000331018.7	-	9	1182	c.942C>G	c.(940-942)ctC>ctG	p.L314L	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000266254.7_Silent_p.L343L			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	343	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		GGTTGTACTTGAGGATTCGGT	0.522000													14	48					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90402717	90402717	+	Silent	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr6:90402717C>T	ENST00000369393.3	-	63	10147	c.10032G>A	c.(10030-10032)caG>caA	p.Q3344Q	MDN1_ENST00000428876.1_Silent_p.Q3344Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3344					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGAGCAGATCCTGAACAGCAG	0.592000													5	22					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18753445	18753445	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr9:18753445C>T	ENST00000380548.4	+	16	2495	c.2156C>T	c.(2155-2157)aCg>aTg	p.T719M		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	719	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.T719M(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AAGCCCAGCACGGTGCAAGCT	0.532000													9	6					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562889	140562889	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr5:140562889C>T	ENST00000361016.2	+	1	1910	c.755C>T	c.(754-756)cCa>cTa	p.P252L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		252	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCAGATTCCAGAGAACAGT	0.517000													22	33					0	0	1	0	0
TRAFD1	10906	broad.mit.edu	37	12	112583419	112583419	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr12:112583419G>A	ENST00000257604.5	+	7	1497	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	TRAFD1_ENST00000412615.2_Missense_Mutation_p.E294K	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	294					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GTTGCCTTGTGAATTTTGTGA	0.403000													24	80					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148768286	148768286	+	Silent	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr7:148768286C>T	ENST00000316286.9	-	3	1592	c.1320G>A	c.(1318-1320)gaG>gaA	p.E440E	ZNF786_ENST00000491431.1_Silent_p.E526E|ZNF786_ENST00000451334.3_Silent_p.E489E			Q8N393	ZN786_HUMAN	zinc finger protein 786	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTCTCAGGTGCTCACGGAGCT	0.647000													9	19					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93119203	93119203	+	Silent	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr14:93119203G>A	ENST00000216487.7	+	6	1968	c.1809G>A	c.(1807-1809)aaG>aaA	p.K603K	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	603	Interaction with RAB5B.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGCTGTACAAGAAGGTGGTGG	0.592000													16	23					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81472038	81472038	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr12:81472038G>C	ENST00000548058.1	+	1	1049	c.139G>C	c.(139-141)Ggg>Cgg	p.G47R	ACSS3_ENST00000261206.3_Missense_Mutation_p.G47R			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	47						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGGCGGTCTCGGGGGCCGGGG	0.741000													5	21					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5751425	5751425	+	Silent	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr7:5751425C>T	ENST00000425013.2	-	13	2081	c.1857G>A	c.(1855-1857)aaG>aaA	p.K619K	RNF216_ENST00000389902.3_Silent_p.K676K	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	619					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGCTGAACCTCTTCACATCAC	0.463000													7	13					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160430152	160430152	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr6:160430152T>C	ENST00000356956.1	+	3	548	c.400T>C	c.(400-402)Tgt>Cgt	p.C134R		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	134					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGCCTTCCTGTGTGGGAAAAC	0.468000													21	20					0	0	1	0	0
TTLL1	25809	broad.mit.edu	37	22	43442436	43442436	+	Silent	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr22:43442436G>A	ENST00000331018.7	-	9	1275	c.1035C>T	c.(1033-1035)gtC>gtT	p.V345V	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000266254.7_Silent_p.V374V			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	374	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		AATTGCCGAGGACTTCCTTAG	0.502000													12	60					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37008185	37008185	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr5:37008185A>C	ENST00000282516.8	+	19	4814	c.4315A>C	c.(4315-4317)Act>Cct	p.T1439P	NIPBL_ENST00000448238.2_Missense_Mutation_p.T1439P	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1439					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TAAGTTAGTCACTGCAGTAAG	0.299000													5	18					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149878363	149878363	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:149878363G>T	ENST00000369146.3	-	11	2214	c.1724C>A	c.(1723-1725)aCa>aAa	p.T575K	SV2A_ENST00000369145.1_Missense_Mutation_p.T575K	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	575					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GTGCAGGAATGTACTGTTTAT	0.542000													8	26					1.06961e-07	1.11926e-07	1	1	0
EIF2B5	8893	broad.mit.edu	37	3	183854514	183854514	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr3:183854514G>T	ENST00000273783.3	+	2	432	c.310G>T	c.(310-312)Gaa>Taa	p.E104*	EIF2B5_ENST00000432569.1_Nonsense_Mutation_p.E104*|EIF2B5_ENST00000498831.1_3'UTR|EIF2B5_ENST00000444495.1_Nonsense_Mutation_p.E104*	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	104					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TCAAATCAAAGAACATTTACT	0.418000													25	114					9.57634e-11	1.01493e-10	1	1	0
NBEAL1	65065	broad.mit.edu	37	2	204003001	204003001	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr2:204003001C>T	ENST00000449802.1	+	29	4928	c.4595C>T	c.(4594-4596)tCa>tTa	p.S1532L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1532							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTTCTTCAGTCAGAGGGACTA	0.358000													15	22					0	0	1	0	0
CACTIN	58509	broad.mit.edu	37	19	3612139	3612139	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr19:3612139C>T	ENST00000429344.2	-	10	2111	c.2059G>A	c.(2059-2061)Gac>Aac	p.D687N	CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Missense_Mutation_p.D619N|CACTIN_ENST00000248420.5_Missense_Mutation_p.D687N	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		GAGCGCTTGTCGATGAGGTCG	0.592000													12	55					0	0	1	0	0
C14orf79	122616	broad.mit.edu	37	14	105452804	105452804	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr14:105452804G>C	ENST00000547315.1	+	1	675	c.36G>C	c.(34-36)ttG>ttC	p.L12F		NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	12										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			GAGAGCCTTTGAGTGACCTCC	0.657000													19	15					0	0	1	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8438674	8438674	+	Silent	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr19:8438674G>A	ENST00000301455.2	+	7	1296	c.1125G>A	c.(1123-1125)aaG>aaA	p.K375K	ANGPTL4_ENST00000393962.2_Silent_p.K337K|ANGPTL4_ENST00000541807.1_Silent_p.K208K	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	375	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						AGAAGCTTAAGAAGGGAATCT	0.627000													17	103					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324483	152324483	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:152324483C>T	ENST00000388718.5	-	3	5851	c.5779G>A	c.(5779-5781)Gga>Aga	p.G1927R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1927							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)			GTGGTATCTCCTGTCTGTCCA	0.498000													29	150					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21543035	21543035	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr14:21543035G>C	ENST00000298694.4	+	3	1273	c.1146G>C	c.(1144-1146)aaG>aaC	p.K382N	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.K382N			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	382	Gly-rich.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.K382N(1)		large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						ACAGAAGAAAGAAGCGAGCTG	0.627000													4	22					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55224582	55224582	+	RNA	SNP	G	G	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr19:55224582G>T	ENST00000413439.1	+	0	1769																											GAGACCTCTTGGTCCACCATC	0.622000													11	13					0.000673444	0.00068169	1	1	0
TMEM106C	79022	broad.mit.edu	37	12	48358029	48358029	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr12:48358029C>A	ENST00000429772.2	+	2	123	c.10C>A	c.(10-12)Cag>Aag	p.Q4K	TMEM106C_ENST00000552546.1_Missense_Mutation_p.Q4K|TMEM106C_ENST00000256686.6_Missense_Mutation_p.Q4K|TMEM106C_ENST00000552561.1_Missense_Mutation_p.Q4K|TMEM106C_ENST00000550552.1_Missense_Mutation_p.Q4K|TMEM106C_ENST00000549288.1_Missense_Mutation_p.Q4K|TMEM106C_ENST00000449758.2_Missense_Mutation_p.Q4K	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	4						endoplasmic reticulum membrane|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		CATGGGGTCTCAGCATTCCGC	0.552000													8	7					5.68852e-11	6.05474e-11	1	1	0
GNB4	59345	broad.mit.edu	37	3	179137286	179137286	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr3:179137286G>C	ENST00000232564.3	-	4	390	c.104C>G	c.(103-105)tCa>tGa	p.S35*	GNB4_ENST00000468623.1_Nonsense_Mutation_p.S35*	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	35					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			GTCCATATTTGATGTAATCTT	0.373000													37	67					0	0	1	0	0
TRUB1	142940	broad.mit.edu	37	10	116719506	116719506	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr10:116719506C>G	ENST00000298746.3	+	4	524	c.463C>G	c.(463-465)Ctg>Gtg	p.L155V	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	155					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CATTGGAGAACTGGGGAAAGC	0.413000													3	22					0	0	1	0	0
COQ5	84274	broad.mit.edu	37	12	120960044	120960044	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr12:120960044G>A	ENST00000288532.6	-	2	365	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	COQ5_ENST00000445328.2_Nonsense_Mutation_p.Q109*	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	109					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCAAGCAGCTGGGTCCCAGGA	0.448000													5	32					0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215793777	215793777	+	Silent	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:215793777G>A	ENST00000259154.4	+	18	2559	c.2265G>A	c.(2263-2265)aaG>aaA	p.K755K	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	755						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AGTTTAGGAAGAAAGGAGGAT	0.403000													25	48					0	0	1	0	0
HLA-DPA1	3113	broad.mit.edu	37	6	33036461	33036461	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr6:33036461G>C	ENST00000419277.1	-	5	878	c.749C>G	c.(748-750)tCt>tGt	p.S250C	HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.S250C	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	250					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						GTCATGGCCAGAACGCAGAGA	0.562000													15	37					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18198653	18198653	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chrX:18198653G>C	ENST00000380033.4	-	9	1538	c.1406C>G	c.(1405-1407)tCt>tGt	p.S469C	BEND2_ENST00000380030.3_Missense_Mutation_p.S378C	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	469										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GATACAGACAGATGATGAGGA	0.413000													28	16					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164733747	164733747	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr3:164733747A>G	ENST00000264382.3	-	32	3943	c.3881T>C	c.(3880-3882)aTt>aCt	p.I1294T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1294	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GACCAGGATAATAATGTATCT	0.388000										HNSCC(35;0.089)			40	69					0	0	1	0	0
HECTD2	143279	broad.mit.edu	37	10	93250985	93250985	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr10:93250985G>A	ENST00000446394.1	+	13	1332	c.1232G>A	c.(1231-1233)aGa>aAa	p.R411K	HECTD2_ENST00000536715.1_5'UTR|HECTD2_ENST00000371667.1_Missense_Mutation_p.R57K|HECTD2_ENST00000298068.5_Missense_Mutation_p.R407K	NM_001284274.1	NP_001271203.1	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	407					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GTATCTCGAAGACAGAGACCT	0.289000													7	35					0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127732072	127732072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr7:127732072C>T	ENST00000354725.3	+	24	2889	c.2695C>T	c.(2695-2697)Cga>Tga	p.R899*		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	899					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TGGAGACTTTCGAGCTGATGA	0.577000													37	87					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564145	176564145	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:176564145C>T	ENST00000367662.3	+	3	2569	c.1405C>T	c.(1405-1407)Ccc>Tcc	p.P469S	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P469S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	469	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						AGAGTGGGTTCCCTTTAGAGA	0.537000													13	47					0	0	1	0	0
CASP4	837	broad.mit.edu	37	11	104820425	104820425	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr11:104820425G>C	ENST00000444739.2	-	5	1536	c.626C>G	c.(625-627)tCt>tGt	p.S209C	CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_Missense_Mutation_p.S153C	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	209					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		GATGCCATGAGACATGAGTAC	0.468000													17	234					0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101912	69101912	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr4:69101912G>A	ENST00000332644.5	-	3	358	c.197C>T	c.(196-198)gCt>gTt	p.A66V		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	66	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GGCTTGTGAAGCTGCGTTTTC	0.279000													7	12					0	0	1	0	0
TYSND1	219743	broad.mit.edu	37	10	71905217	71905217	+	Silent	SNP	G	G	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr10:71905217G>T	ENST00000287078.6	-	1	1125	c.1126C>A	c.(1126-1128)Cgg>Agg	p.R376R	TYSND1_ENST00000335494.5_Silent_p.R376R	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	376	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						GCTGCTTCCCGAGGGGACACG	0.672000													3	3					0.00024832	0.000253429	1	1	0
GLTSCR1	29998	broad.mit.edu	37	19	48197763	48197763	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr19:48197763C>G	ENST00000396720.3	+	8	2869	c.2675C>G	c.(2674-2676)tCt>tGt	p.S892C	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	892							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCCTCCTCCTCTGAGACGTCC	0.706000													5	9					0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29407904	29407904	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr6:29407904G>A	ENST00000444197.2	+	1	822	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCTGCTGACCGTGGCAGGCAA	0.562000													10	56					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28407164	28407164	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr17:28407164G>C	ENST00000394835.3	+	16	3294	c.3102G>C	c.(3100-3102)gaG>gaC	p.E1034D	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E910D	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1034							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TACTGCCTGAGAAAGGGAATG	0.423000													9	48					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155312447	155312447	+	Translation_Start_Site	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr4:155312447C>T	ENST00000357232.4	-	1	2	c.3G>A	c.(1-3)atG>atA	p.M1I	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		catccagtctcatgattttaa	0.393000													5	5					0	0	1	0	0
PIK3IP1	113791	broad.mit.edu	37	22	31685271	31685271	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr22:31685271C>G	ENST00000402249.3	-	5	751	c.617G>C	c.(616-618)aGg>aCg	p.R206T	PIK3IP1_ENST00000215912.5_Intron|PIK3IP1_ENST00000441972.1_Intron|PIK3IP1_ENST00000487265.2_Intron			Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	0						integral to membrane				large_intestine(2)|lung(1)|ovary(1)	4						TCCCCTCCTCCTAAGAGGGCC	0.478000													6	11					0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58494664	58494664	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr3:58494664C>T	ENST00000302819.5	-	14	2230	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Missense_Mutation_p.E633K	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	647					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		AACAGGCGTTCGTAGACGTTT	0.433000													14	15					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641333	179641333	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr2:179641333A>G	ENST00000589042.1	-	28	5482	c.5258T>C	c.(5257-5259)aTg>aCg	p.M1753T	TTN_ENST00000460472.2_Missense_Mutation_p.M1707T|TTN_ENST00000359218.5_Missense_Mutation_p.M1707T|TTN_ENST00000342992.6_Missense_Mutation_p.M1753T|TTN_ENST00000360870.5_Missense_Mutation_p.M1753T|TTN_ENST00000342175.6_Missense_Mutation_p.M1707T|TTN_ENST00000591111.1_Missense_Mutation_p.M1753T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1506	Ig-like 8.						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)			TTCATTGATCATACGGAGCCT	0.473000													17	39					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													10	7					0	0	1	0	0
FAAH	2166	broad.mit.edu	37	1	46877299	46877299	+	Silent	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:46877299C>G	ENST00000243167.8	+	12	1416	c.1332C>G	c.(1330-1332)ctC>ctG	p.L444L		NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	444					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CTGGAAAACTCTGGGAACTGC	0.597000													6	14					0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519801	53519801	+	Silent	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr6:53519801G>C	ENST00000370905.3	-	2	410	c.270C>G	c.(268-270)gtC>gtG	p.V90V	KLHL31_ENST00000407079.1_Silent_p.V90V	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	90	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					ATGAAGCCATGACTGACTTAT	0.423000													28	67					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93534736	93534736	+	Silent	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr15:93534736C>G	ENST00000394196.4	+	27	4512	c.3444C>G	c.(3442-3444)ctC>ctG	p.L1148L	CHD2_ENST00000557381.1_Silent_p.L1148L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1148					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGTTTGGTCTCCCTCTTGAAC	0.299000													20	15					0	0	1	0	0
ZNF502	91392	broad.mit.edu	37	3	44762679	44762679	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr3:44762679G>C	ENST00000296091.4	+	4	626	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	ZNF502_ENST00000449836.1_Missense_Mutation_p.E124Q|ZNF502_ENST00000436624.2_Missense_Mutation_p.E124Q	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TTCTACAGAAGAGAGTCTGCA	0.378000													21	21					0	0	1	0	0
C19orf18	147685	broad.mit.edu	37	19	58472793	58472793	+	Silent	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr19:58472793C>T	ENST00000314391.3	-	5	599	c.498G>A	c.(496-498)gaG>gaA	p.E166E		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	166						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		CATTTTCGTTCTCTGGAAGTA	0.488000													32	21					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034114	52034114	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr19:52034114G>A	ENST00000346477.3	-	3	595	c.527C>T	c.(526-528)aCg>aTg	p.T176M	SIGLEC6_ENST00000436458.1_Missense_Mutation_p.T140M|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.T165M|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.T176M|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.T176M|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.T176M	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	176	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GATGGGGGGCGTCCCCTGCTC	0.667000													16	75					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43892848	43892848	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:43892848C>T	ENST00000562955.1	+	23	3260	c.3260C>T	c.(3259-3261)tCa>tTa	p.S1087L	SZT2_ENST00000372442.1_Missense_Mutation_p.S245L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1144						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						GCTACCTTCTCAGGTGCCAGC	0.567000													30	93					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82538327	82538327	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr7:82538327A>G	ENST00000333891.9	-	8	13640	c.13303T>C	c.(13303-13305)Tat>Cat	p.Y4435H	PCLO_ENST00000423517.2_Missense_Mutation_p.Y4435H	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		PDZ.				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						CGCAGATGATAGGCTTTGGAC	0.453000													5	35					0	0	1	0	0
WIPF1	7456	broad.mit.edu	37	2	175432604	175432604	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr2:175432604C>G	ENST00000392547.2	-	6	1426	c.1327G>C	c.(1327-1329)Gac>Cac	p.D443H	WIPF1_ENST00000392546.2_Missense_Mutation_p.D443H|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.D443H|WIPF1_ENST00000272746.5_Missense_Mutation_p.D443H|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000467149.1_5'UTR|WIPF1_ENST00000409891.1_Missense_Mutation_p.D443H	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	443					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						CATGGAGAGTCTTGGAAGCCA	0.532000													8	38					0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142803825	142803825	+	Translation_Start_Site	SNP	T	T	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chrX:142803825T>C	ENST00000370498.1	-	0	691					NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCACAGCTATATTGAAGCTT	0.488000													27	13					0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66479990	66479990	+	Silent	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr5:66479990C>T	ENST00000256447.4	-	3	838	c.681G>A	c.(679-681)ttG>ttA	p.L227L		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	227					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CTCCAAAGTTCAAACTTTGGA	0.428000													22	33					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79383520	79383520	+	Silent	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:79383520G>C	ENST00000370742.3	-	11	1740	c.1677C>G	c.(1675-1677)acC>acG	p.T559T		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	559					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTTACACTTTGGTTGTGCCAT	0.343000													29	24					0	0	1	0	0
ASB8	140461	broad.mit.edu	37	12	48543418	48543418	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr12:48543418C>T	ENST00000317697.3	-	4	767	c.598G>A	c.(598-600)Gga>Aga	p.G200R	ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.G200R	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	200					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						TTCTCTGTTCCAAGTCCCCTG	0.527000													15	30					0	0	1	0	0
COLGALT2	23127	broad.mit.edu	37	1	183920204	183920204	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:183920204C>T	ENST00000361927.4	-	8	1444	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q	COLGALT2_ENST00000367520.3_Missense_Mutation_p.R95Q|COLGALT2_ENST00000546159.1_Missense_Mutation_p.R358Q	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		GCGCAGCATCCGGTCCCGCCT	0.443000													42	50					0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27182443	27182443	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr15:27182443C>T	ENST00000335625.5	+	8	1580	c.692C>T	c.(691-693)aCg>aTg	p.T231M	GABRA5_ENST00000400081.3_Missense_Mutation_p.T231M|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.T231M	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	231					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATGGGGCAGACGGTGGGCACT	0.607000													11	45					0	0	1	0	0
IGLON5	402665	broad.mit.edu	37	19	51827007	51827007	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr19:51827007C>T	ENST00000270642.8	+	3	250	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	84	Ig-like C2-type 1.					extracellular region				large_intestine(5)|lung(6)|prostate(1)	12						CAGCGACCCGCGGGTGCGGCT	0.657000													17	26					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47609494	47609494	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:47609494G>C	ENST00000371891.3	+	6	727	c.696G>C	c.(694-696)atG>atC	p.M232I	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Intron|CYP4A22_ENST00000294337.3_Missense_Mutation_p.M232I|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	232				M -> V (in Ref. 2; AAQ21367).		endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTGCTGTATGAGGAATGCCT	0.547000													22	46					0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101120807	101120807	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr15:101120807G>C	ENST00000314742.8	-	2	463	c.241C>G	c.(241-243)Cag>Gag	p.Q81E	LINS_ENST00000561308.1_Missense_Mutation_p.Q81E|LINS_ENST00000560133.1_Intron|LINS_ENST00000559149.1_5'UTR	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	81										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CCGCTCATCTGAGAGTTGGTC	0.488000													13	10					0	0	1	0	0
RNLS	55328	broad.mit.edu	37	10	90342888	90342888	+	Silent	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr10:90342888C>T	ENST00000371947.3	-	1	1399	c.60G>A	c.(58-60)ctG>ctA	p.L20L	RNLS_ENST00000331772.4_Silent_p.L20L|RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Silent_p.L20L	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	20						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						TCTGCCTCCTCAGCAGCGCAG	0.632000											OREG0020353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	16					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176525	140176525	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr5:140176525T>G	ENST00000526136.1	+	1	1976	c.1976T>G	c.(1975-1977)tTg>tGg	p.L659W	PCDHA2_ENST00000378132.1_Missense_Mutation_p.L659W|PCDHA2_ENST00000520672.2_Missense_Mutation_p.L659W|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACCAGCGTTGACAGCCACG	0.657000													5	52					0	0	1	0	0
TRA2B	6434	broad.mit.edu	37	3	185636158	185636158	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr3:185636158G>A	ENST00000453386.2	-	8	1126	c.851C>T	c.(850-852)tCa>tTa	p.S284L	TRA2B_ENST00000382191.4_Missense_Mutation_p.S184L	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	284	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	p.S284L(1)		breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						CTTACGAGGTGAGTATGATCG	0.378000													13	42					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155903427	155903427	+	Silent	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:155903427C>T	ENST00000368320.3	-	2	277	c.252G>A	c.(250-252)gaG>gaA	p.E84E	KIAA0907_ENST00000368319.3_Silent_p.E84E|KIAA0907_ENST00000368321.3_Silent_p.E84E|KIAA0907_ENST00000482337.1_5'UTR			Q7Z7F0	K0907_HUMAN	KIAA0907	84										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CAAATACCTTCTCAGAAGCAT	0.502000													3	8					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59761240	59761240	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr17:59761240G>C	ENST00000259008.2	-	20	3434	c.3167C>G	c.(3166-3168)tCa>tGa	p.S1056*		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1056	Interaction with BRCA1.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TGTCAGATTTGAGGATTCACA	0.388000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					48	103					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76490166	76490166	+	Silent	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr17:76490166G>A	ENST00000389840.5	-	41	6442	c.6318C>T	c.(6316-6318)gtC>gtT	p.V2106V	DNAH17_ENST00000585328.1_Silent_p.V2115V|RP11-559N14.5_ENST00000585969.1_RNA|RP11-559N14.5_ENST00000591373.1_RNA					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGGAGTGGCGGACCTGCAGCA	0.632000													5	9					0	0	1	0	0
NAP1L1	4673	broad.mit.edu	37	12	76461231	76461231	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr12:76461231C>G	ENST00000261182.8	-	4	612	c.126G>C	c.(124-126)atG>atC	p.M42I	NAP1L1_ENST00000548044.1_Start_Codon_SNP_p.M1I|NAP1L1_ENST00000542344.1_Start_Codon_SNP_p.M1I|NAP1L1_ENST00000535020.2_Missense_Mutation_p.M42I|NAP1L1_ENST00000552342.1_Missense_Mutation_p.M42I|NAP1L1_ENST00000431879.3_Start_Codon_SNP_p.M1I|NAP1L1_ENST00000547773.1_Intron|NAP1L1_ENST00000544816.1_Intron|NAP1L1_ENST00000393263.3_Missense_Mutation_p.M42I|NAP1L1_ENST00000549596.1_Missense_Mutation_p.M42I	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	42					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				GATTTTGCATCATCTGAACAG	0.368000													12	45					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101230	168101230	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr2:168101230G>C	ENST00000409195.1	+	9	3417	c.3328G>C	c.(3328-3330)Gtt>Ctt	p.V1110L	XIRP2_ENST00000295237.9_Missense_Mutation_p.V1110L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V888L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	935					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						TTATGAAAAAGTTTCGTTAAT	0.368000													6	18					0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42301749	42301749	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr19:42301749G>A	ENST00000357396.3	+	2	534	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	CEACAM3_ENST00000221999.4_Missense_Mutation_p.R98Q|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Missense_Mutation_p.R98Q	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	98	Ig-like V-type.					integral to membrane		p.R98_S106delRETIYTNAS(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						TACAGCGGTCGAGAGACAATA	0.453000													22	183					0	0	1	0	0
BIRC7	79444	broad.mit.edu	37	20	61870741	61870741	+	Silent	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr20:61870741G>A	ENST00000217169.3	+	6	895	c.681G>A	c.(679-681)gcG>gcA	p.A227A	BIRC7_ENST00000395306.1_Intron|BIRC7_ENST00000342412.6_Intron	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	227					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CCCAGAGGGCGTGGTGGGTTC	0.687000													12	17					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33583205	33583205	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr20:33583205G>A	ENST00000262873.7	+	26	2985	c.2893G>A	c.(2893-2895)Gag>Aag	p.E965K		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	923			K -> E (in dbSNP:rs2425015).			membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGTGCAGCTGGAGGGGAAGGT	0.662000													5	17					0	0	1	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27829454	27829454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr12:27829454C>T	ENST00000318304.8	+	18	1838	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	PPFIBP1_ENST00000228425.6_Nonsense_Mutation_p.R502*|PPFIBP1_ENST00000537927.1_Nonsense_Mutation_p.R366*|PPFIBP1_ENST00000542629.1_Nonsense_Mutation_p.R488*	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	519					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CTTCGGCACTCGAAAAGTCAG	0.517000													24	42					0	0	1	0	0
ACADVL	37	broad.mit.edu	37	17	7126044	7126044	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr17:7126044G>C	ENST00000356839.5	+	10	1116	c.937G>C	c.(937-939)Gat>Cat	p.D313H	ACADVL_ENST00000543245.2_Missense_Mutation_p.D336H|ACADVL_ENST00000350303.5_Missense_Mutation_p.D291H	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	313	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						GGTGTTCTTTGATGGAGTACG	0.547000													7	10					0	0	1	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354060	17354060	+	RNA	SNP	C	C	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr5:17354060C>G	ENST00000511821.1	+	0	42				FTH1P10_ENST00000401830.3_RNA																							GTGCTCCCATCTTGCACAAGT	0.463000													9	25					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43850871	43850871	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr20:43850871G>C	ENST00000372769.3	+	2	688	c.598G>C	c.(598-600)Gaa>Caa	p.E200Q		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	200	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCAAACTGAAGAACTAGTAGT	0.388000													16	53					0	0	1	0	0
ACKR4	51554	broad.mit.edu	37	3	132319326	132319326	+	Silent	SNP	C	C	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr3:132319326C>T	ENST00000249887.2	+	2	181	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4									p.L29L(1)									TCAATATGAACTGATCTGTAT	0.378000													3	30					0	0	1	0	0
NEIL3	55247	broad.mit.edu	37	4	178243642	178243642	+	Silent	SNP	G	G	A			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr4:178243642G>A	ENST00000264596.3	+	2	304	c.186G>A	c.(184-186)caG>caA	p.Q62Q		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	62					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		ATTCCAGCCAGAATGTCTTGA	0.393000								Base excision repair (BER), DNA glycosylases					30	21					0	0	1	0	0
SRGAP2B	647135	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108																											tcgctcacgctggagctgtaga	0.535													4	6	---	---	---	---					
RP11-353N4.5	0	broad.mit.edu	37	1	149649078	149649079	+	RNA	INS	-	-	A	rs140263023		TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr1:149649078_149649079insA	ENST00000608683.1	-	0	533_534																											AGAGAGCCTTCAAAACCTCTTA	0.426													4	9	---	---	---	---					
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584													5	8	---	---	---	---					
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304731	66304731	+	RNA	DEL	T	T	-			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1																						TTTCTTTCCCttttttttttt	0.512													3	6	---	---	---	---					
TRPA1	8989	broad.mit.edu	37	8	72967687	72967688	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr8:72967687_72967688insT	ENST00000262209.4	-	12	1719_1720	c.1512_1513insA	c.(1510-1515)aaaggtfs	p.G505fs	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	505						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AACAATGCACCTTTTTTCAGAA	0.347													8	63	---	---	---	---					
COPZ1	22818	broad.mit.edu	37	12	54718955	54718956	+	In_Frame_Ins	INS	-	-	GCG			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr12:54718955_54718956insGCG	ENST00000262061.2	+	1	45_46	c.8_9insGCG	c.(7-12)gcgctg>gcGCGgctg	p.3_4AL>ARL	COPZ1_ENST00000551779.1_In_Frame_Ins_p.3_4AL>ARL|COPZ1_ENST00000552218.1_In_Frame_Ins_p.3_4AL>ARL|COPZ1_ENST00000549043.1_5'UTR|RP11-968A15.8_ENST00000553061.1_RNA|COPZ1_ENST00000553231.1_In_Frame_Ins_p.3_4AL>ARL|COPZ1_ENST00000549116.1_In_Frame_Ins_p.3_4AL>ARL|COPZ1_ENST00000455864.2_In_Frame_Ins_p.3_4AL>ARL|COPZ1_ENST00000416254.2_5'UTR|COPZ1_ENST00000552362.1_In_Frame_Ins_p.3_4AL>ARL	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	3					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol				kidney(1)|lung(4)	5						AAGATGGAGGCGCTGATTTTGG	0.619											OREG0021891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	2	---	---	---	---					
ARID3B	10620	broad.mit.edu	37	15	74836289	74836290	+	In_Frame_Ins	INS	-	-	CAG			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr15:74836289_74836290insCAG	ENST00000346246.5	+	2	243_244	c.12_13insCAG	c.(13-15)cag>CAGcag	p.5_5Q>QQ		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	5	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						TGGAGCCACTTcagcagcagca	0.554													6	9	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102312241	102312241	+	RNA	DEL	A	A	-	rs59860046		TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr15:102312241delA	ENST00000561463.1	+	0	13609																											AGTGGCCGGGAAATTTGCTGT	0.592													4	6	---	---	---	---					
TAOK2	9344	broad.mit.edu	37	16	29998300	29998302	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr16:29998300_29998302delGAA	ENST00000308893.4	+	16	3750_3752	c.2707_2709delGAA	c.(2707-2709)gaadel	p.E907del	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_In_Frame_Del_p.E734del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E794del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	907	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGAGGAGGAGGAAGAAGAGGAAG	0.606													22	59	---	---	---	---					
PKD1L2	114780	broad.mit.edu	37	16	81253526	81253527	+	RNA	INS	-	-	TTATT	rs140827348	by1000genomes	TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chr16:81253526_81253527insTTATT	ENST00000337114.4	-	0	301				PKD1L2_ENST00000525539.1_RNA	NM_001076780.1	NP_001070248.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ttagacatgaattatttaatcc	0.391													7	5	---	---	---	---					
STAG2	10735	broad.mit.edu	37	X	123224587	123224587	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BT-A42E-01A-11D-A23U-08	TCGA-BT-A42E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1bc41b6-e8ed-49f0-a562-c9f7c96b3a8c	3febe60d-aa1d-479d-a20b-722b9d798f0c	g.chrX:123224587delA	ENST00000371160.1	+	31	3730	c.3440delA	c.(3439-3441)gaafs	p.E1147fs	STAG2_ENST00000371145.3_Frame_Shift_Del_p.E1147fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Del_p.E1147fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.E1147fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.E1147fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.E1078fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1147					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ATGCAGACTGAACATCATCAA	0.343													23	20	---	---	---	---