Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PRUNE2	158471	broad.mit.edu	37	9	79324474	79324474	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:79324474G>A	uc010mpk.3	-	7	2840	c.2716C>T	c.(2716-2718)Cct>Tct	p.P906S	PRUNE2_uc022bih.1_Missense_Mutation_p.P728S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	906					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTAGTTTTAGGATCCACTAAA	0.428000														121			46		0	0	0.003610	0	0
SLC35E3	55508	broad.mit.edu	37	12	69158494	69158494	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:69158494T>C	uc001suh.3	+	4	988	c.766T>C	c.(766-768)Ttc>Ctc	p.F256L		NM_018656	NP_061126	Q7Z769	S35E3_HUMAN	Homo sapiens solute carrier family 35, member E3 (SLC35E3), mRNA.	256						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			CTATAACATGTTCGGACACTT	0.348000														39			35		0	0	0.007835	0	0
RTP1	132112	broad.mit.edu	37	3	186917640	186917640	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:186917640G>A	uc003frg.3	+	1	604	c.574G>A	c.(574-576)Gag>Aag	p.E192K		NM_153708	NP_714919	P59025	RTP1_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.	192					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		AGAGTTCTGCGAGGCCTGCCA	0.701000														30			15		0	0	0.003163	0	0
CLCNKA	1187	broad.mit.edu	37	1	16358708	16358708	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:16358708C>T	uc001axu.3	+	16	1847	c.1767C>T	c.(1765-1767)atC>atT	p.I589I	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Silent_p.I546I|CLCNKA_uc001axv.3_Silent_p.I589I|CLCNKA_uc010oby.1_Missense_Mutation_p.S309F|CLCNKA_uc021ogl.1_Intron	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	589	CBS 1.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	AGTCCCAGATCCTGGTAGGCA	0.622000														45			12		0	0	0.002450	0	0
EDAR	10913	broad.mit.edu	37	2	109513597	109513597	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:109513597C>T	uc010fjn.3	-	11	1756	c.1209G>A	c.(1207-1209)gtG>gtA	p.V403V	EDAR_uc010yws.2_Silent_p.V403V|EDAR_uc002teq.4_Silent_p.V371V	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	371	Death.		T -> M (in EDA).		apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GCCACGTTTTCACAACAGCCT	0.567000														50			26		0	0	0.001786	0	0
NR5A1	2516	broad.mit.edu	37	9	127262838	127262838	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:127262838G>A	uc004boo.1	-	3	588	c.401C>T	c.(400-402)cCc>cTc	p.P134L	NR5A1_uc022bnh.1_Missense_Mutation_p.P134L	NM_004959	NP_004950	Q13285	STF1_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.	134					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GTCCGGTGCGGGAGGGGGCGG	0.711000														26			15		0	0	0.004990	0	0
HRH1	3269	broad.mit.edu	37	3	11301941	11301941	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:11301941C>T	uc010hdr.3	+	1	1560	c.1218C>T	c.(1216-1218)caC>caT	p.H406H	HRH1_uc010hds.3_Silent_p.H406H|HRH1_uc010hdt.3_Silent_p.H406H|HRH1_uc003bwb.4_Silent_p.H406H|HRH1_uc021wtb.1_Silent_p.H406H	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	406					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	p.H406Y(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CTGGGTTGCACATGAACCGCG	0.478000														75			33		0	0	0.002445	0	0
PCSK5	5125	broad.mit.edu	37	9	78804604	78804604	+	Silent	SNP	C	T	T	rs138803714		TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:78804604C>T	uc004akc.2	+	19	3106	c.2568C>T	c.(2566-2568)tgC>tgT	p.C856C	PCSK5_uc004ajz.3_Silent_p.C856C|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_Silent_p.C130C	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	856	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GTACAAGCTGCCCTAGTGGGT	0.403000														50			14		0	0	0.002450	0	0
ETV6	2120	broad.mit.edu	37	12	12037444	12037444	+	Nonsense_Mutation	SNP	C	T	T	rs141938078	byFrequency	TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:12037444C>T	uc001qzz.3	+	5	1349	c.1075C>T	c.(1075-1077)Cga>Tga	p.R359*	ETV6_uc001raa.1_Intron	NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	359						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				AAACTTCATCCGATGGGAGGA	0.463000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""									71			60		0	0	0.003610	0	0
COLEC12	81035	broad.mit.edu	37	18	346955	346955	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr18:346955G>A	uc002kkm.3	-	4	882	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	223					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	p.L223L(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GACCGCTGCAGATTCGTGATG	0.483000														90			31		0	0	0.002836	0	0
MAP4K2	5871	broad.mit.edu	37	11	64567664	64567664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:64567664G>A	uc001obh.3	-	11	924	c.832C>T	c.(832-834)Cct>Tct	p.P278S	MAP4K2_uc001obi.3_Missense_Mutation_p.P278S	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	278					activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	Golgi membrane|basolateral plasma membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						AGGGCCCGAGGGAGCTGCTGA	0.647000														23			7		0	0	0.001984	0	0
MYCBP2	23077	broad.mit.edu	37	13	77636771	77636771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr13:77636771G>A	uc021rks.1	-	73	13001	c.12734C>T	c.(12733-12735)tCg>tTg	p.S4245L	MYCBP2_uc010aev.3_Missense_Mutation_p.S3611L|MYCBP2_uc001vke.3_Missense_Mutation_p.S824L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	4207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCATCTCCCCGAGGAGAGACG	0.423000														72			7		0	0	0.003080	0	0
PHKA1	5255	broad.mit.edu	37	X	71870319	71870319	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:71870319C>T	uc004eax.4	-	13	1547	c.1246_splice	c.e13-1	p.G416_splice	PHKA1_uc004eay.4_Splice_Site_p.G416_splice|PHKA1_uc011mqi.2_Splice_Site_p.G416_splice	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	416					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CTAAAAATCCCTAAAGAAAAA	0.393000														9			8		0	0	0.003080	0	0
KCNQ2	3785	broad.mit.edu	37	20	62071036	62071036	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr20:62071036C>T	uc002yey.1	-	5	1019	c.842G>A	c.(841-843)gGg>gAg	p.G281E	KCNQ2_uc002yez.1_Missense_Mutation_p.G281E|KCNQ2_uc002yfa.1_Missense_Mutation_p.G281E|KCNQ2_uc002yfb.1_Missense_Mutation_p.G281E|KCNQ2_uc011aax.1_Missense_Mutation_p.G281E|KCNQ2_uc002yfc.1_Missense_Mutation_p.G281E	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	281					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G281W(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GTACTTGTCCCCGTAGCCAAT	0.642000														65			23		0	0	0.003954	0	0
OBSCN	84033	broad.mit.edu	37	1	228451886	228451887	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:228451886_228451887CC>TT	uc009xez.1	+	15	4699_4700	c.4655_4656CC>TT	c.(4654-4656)gcc>gTT	p.A1552V	OBSCN_uc001hsn.3_Missense_Mutation_p.A1552V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1552	Ig-like 16.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGACCAGTGCCACGCTGAGCT	0.644000														68			11		0	0	0.004672	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457192	110457192	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:110457192C>T	uc003yne.3	+	37	5198	c.5094C>T	c.(5092-5094)ttC>ttT	p.F1698F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1698	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.P1701fs*7(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGGTCATTTCCCATGTAAAG	0.438000										HNSCC(38;0.096)				126			57		0	0	0.003610	0	0
C2orf16	84226	broad.mit.edu	37	2	27801410	27801410	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:27801410G>A	uc002rkz.4	+	0	2022	c.1971G>A	c.(1969-1971)gtG>gtA	p.V657V		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	657										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTACTCAAGTGAAGTCTGCAG	0.393000														43			8		0	0	0.000978	0	0
ALDH3B2	222	broad.mit.edu	37	11	67432808	67432808	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:67432808G>A	uc001omr.3	-	6	1093	c.654C>T	c.(652-654)ggC>ggT	p.G218G	ALDH3B2_uc001oms.3_Silent_p.G218G|ALDH3B2_uc009ysa.1_Silent_p.G218G	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	218					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	CGCGGCTGCAGCCCAGCAATG	0.632000														52			25		0	0	0.001786	0	0
TNR	7143	broad.mit.edu	37	1	175334325	175334325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:175334325C>T	uc001gkp.1	-	9	2489	c.2408G>A	c.(2407-2409)aGa>aAa	p.R803K	TNR_uc009wwu.1_Missense_Mutation_p.R803K	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	803	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.D802V(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAGAATGAGTCTGTCTGCTGG	0.537000														45			15		0	0	0.002450	0	0
TRANK1	9881	broad.mit.edu	37	3	36872818	36872818	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:36872818C>T	uc003cgj.3	-	20	8372	c.8124G>A	c.(8122-8124)agG>agA	p.R2708R		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2708					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCCTGGGCTCCCTGGCCTCCT	0.577000														16			3		0	0	0.004672	0	0
AMBRA1	55626	broad.mit.edu	37	11	46565585	46565585	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:46565585C>T	uc001ncv.2	-	5	872	c.558G>A	c.(556-558)gtG>gtA	p.V186V	AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Silent_p.V186V|AMBRA1_uc001ncu.1_Silent_p.V186V|AMBRA1_uc010rgu.1_Silent_p.V186V|AMBRA1_uc001ncw.2_Silent_p.V186V|AMBRA1_uc001ncx.2_Silent_p.V186V	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	186					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GATCAAATCTCACCAGACTAA	0.373000														48			22		0	0	0.003330	0	0
SPRR2D	6703	broad.mit.edu	37	1	153012660	153012660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:153012660G>A	uc021ozq.1	-	0	163	c.163C>T	c.(163-165)Cct>Tct	p.P55S	SPRR2D_uc001fbb.2_Missense_Mutation_p.P55S	NM_006945	NP_008876	P22532	SPR2D_HUMAN	Homo sapiens small proline-rich protein 2D (SPRR2D), mRNA.	55					keratinization	cornified envelope|cytoplasm		p.P55S(2)		endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCACAGGAGGATATTTCTGC	0.557000														197			130		0	0	0.003610	0	0
C17orf57	124989	broad.mit.edu	37	17	45487019	45487019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:45487019G>A	uc002iln.3	+	20	2671	c.2240G>A	c.(2239-2241)aGg>aAg	p.R747K	C17orf57_uc002ilm.3_Missense_Mutation_p.R651K	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	747							calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						GCAGATTTCAGGAAAGAGGCT	0.308000														263			52		0	0	0.003610	0	0
SSFA2	6744	broad.mit.edu	37	2	182787025	182787025	+	Silent	SNP	T	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:182787025T>A	uc002uoi.3	+	15	3883	c.3561T>A	c.(3559-3561)gtT>gtA	p.V1187V	SSFA2_uc002uoh.3_Silent_p.V1187V|SSFA2_uc002uoj.3_Silent_p.V1165V|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Silent_p.V1012V|SSFA2_uc002uol.3_Silent_p.V1034V|SSFA2_uc002uom.3_Silent_p.V651V	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	1187						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CCCCAGAAGTTGTAGGACCTA	0.483000														72			21		0	0	0.002299	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582483	136582483	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr6:136582483G>T	uc003qgx.1	-	11	2930	c.2677C>A	c.(2677-2679)Caa>Aaa	p.Q893K	BCLAF1_uc011edb.1_Missense_Mutation_p.Q172K|BCLAF1_uc003qgy.1_Missense_Mutation_p.Q842K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.Q891K|BCLAF1_uc003qgw.1_Missense_Mutation_p.Q720K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	893					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCATCCCCTTGGTATTTGTCA	0.413000														151			21		3.62473e-10	1.04989e-09	0.001882	1	0
MPP6	51678	broad.mit.edu	37	7	24663358	24663358	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:24663358C>T	uc003swx.3	+	2	371	c.72C>T	c.(70-72)ttC>ttT	p.F24F	MPP6_uc003swy.3_Silent_p.F24F	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	24	L27 1.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ACCTAATTTTCCTCAAGGGAA	0.348000														70			7		0	0	0.001984	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948460	82948460	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:82948460A>G	uc003kim.3	-	1	355	c.284T>C	c.(283-285)tTt>tCt	p.F95S	HAPLN1_uc003kin.3_Missense_Mutation_p.F95S	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	95	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CATGGAAACAAAAACATCCAC	0.433000														76			29		0	0	0.007291	0	0
DSG4	147409	broad.mit.edu	37	18	28979241	28979241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr18:28979241G>A	uc002kwr.2	+	8	1147	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	DSG4_uc002kwq.2_Missense_Mutation_p.D338N	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	338	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCAGATGCTGGATTATGAACA	0.378000														85			18		0	0	0.006122	0	0
LILRA4	23547	broad.mit.edu	37	19	54849758	54849758	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:54849758C>T	uc002qfj.3	-	2	321	c.264G>A	c.(262-264)atG>atA	p.M88I	LILRA4_uc002qfi.3_Missense_Mutation_p.M22I	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	88	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTTCCCACATCATGGATGGGA	0.527000														77			25		0	0	0.005443	0	0
PDILT	204474	broad.mit.edu	37	16	20387405	20387405	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr16:20387405G>A	uc002dhc.1	-	3	751	c.528C>T	c.(526-528)atC>atT	p.I176I		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	176					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AGAAGCCAACGATGACCAAGG	0.522000														24			21		0	0	0.002299	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751121	19751121	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr13:19751121G>A	uc009zzj.3	-	3	1107	c.1002C>T	c.(1000-1002)acC>acT	p.T334T		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	334					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGTCTTGATGGTGGCGATGG	0.527000														37			18		0	0	0.004990	0	0
FBN3	84467	broad.mit.edu	37	19	8175759	8175759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:8175759C>T	uc002mjf.3	-	32	4320	c.4303G>A	c.(4303-4305)Gaa>Aaa	p.E1435K		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1435	EGF-like 22; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.Y1434D(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGGTCCAGTTCGTAGCCACCA	0.607000														75			33		0	0	0.004289	0	0
AGFG2	3268	broad.mit.edu	37	7	100153332	100153332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:100153332C>T	uc003uvf.3	+	5	987	c.851C>T	c.(850-852)tCg>tTg	p.S284L	AGFG2_uc003uvg.1_3'UTR	NM_006076	NP_006067	O95081	AGFG2_HUMAN	Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA.	284					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTCAAGCCTCGTTCCAGGCC	0.532000														93			95		0	0	0.003610	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122459884	122459884	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:122459884G>T	uc003efu.2	-	6	1041	c.902C>A	c.(901-903)cCa>cAa	p.P301Q	HSPBAP1_uc003eft.2_Missense_Mutation_p.P12Q	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA.	301						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		GGTATTTTGTGGATTCTCTGC	0.478000														72			24		5.61819e-17	1.63499e-16	0.005443	1	0
HP	3240	broad.mit.edu	37	16	72094402	72094402	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr16:72094402G>A	uc002fbr.4	+	6	878	c.834G>A	c.(832-834)gtG>gtA	p.V278V	TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.3_Silent_p.V219V|HP_uc021tld.1_Silent_p.V219V|HP_uc002fbt.4_Silent_p.V219V|HPR_uc002fby.3_5'Flank	NM_005143	NP_005134	P00738	HPT_HUMAN	Homo sapiens haptoglobin (HP), transcript variant 1, mRNA.	278	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TAGGGCGTGTGGGTTATGTTT	0.453000														14			29		0	0	0.001786	0	0
PDHA2	5161	broad.mit.edu	37	4	96762199	96762199	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:96762199C>T	uc003htr.4	+	0	961	c.898C>T	c.(898-900)Cgt>Tgt	p.R300C		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	300					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.R300C(2)|p.R300L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AGTCAGTTATCGTACACGAGA	0.433000														39			10		0	0	0.000978	0	0
ZNF711	7552	broad.mit.edu	37	X	84520196	84520196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:84520196G>A	uc004eeq.3	+	5	1737	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	ZNF711_uc004eep.3_Missense_Mutation_p.R284Q|ZNF711_uc004eeo.3_Missense_Mutation_p.R284Q|ZNF711_uc011mqy.1_5'UTR	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	284					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GACCAGAGCCGAATGCAGCGG	0.398000														8			21		0	0	0.001882	0	0
TARS2	80222	broad.mit.edu	37	1	150471004	150471004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:150471004C>T	uc001euq.3	+	10	1272	c.1265C>T	c.(1264-1266)tCc>tTc	p.S422F	TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Missense_Mutation_p.S340F|TARS2_uc009wlt.3_Missense_Mutation_p.S48F|TARS2_uc009wls.3_Missense_Mutation_p.S292F	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	422					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CGGCCCAGATCCTGGCGGGAA	0.657000														70			15		0	0	0.004990	0	0
PRPF8	10594	broad.mit.edu	37	17	1587789	1587789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:1587789G>A	uc002fte.3	-	1	191	c.77C>T	c.(76-78)tCg>tTg	p.S26L		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	26						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding	p.S26L(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTTCTCCTCCGACATGTAGTC	0.701000														48			22		0	0	0.006320	0	0
ITIH4	3700	broad.mit.edu	37	3	52853460	52853460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:52853460G>A	uc011bem.2	-	16	2069	c.2041C>T	c.(2041-2043)Cct>Tct	p.P681S	ITIH4_uc011bel.2_Missense_Mutation_p.P376S|ITIH4_uc003dfy.3_Missense_Mutation_p.P510S|ITIH4_uc003dfz.3_Missense_Mutation_p.P676S|ITIH4_uc011ben.2_Missense_Mutation_p.P646S	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	676					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGAACATCAGGAGGTCCTGGG	0.602000														51			18		0	0	0.007413	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075177	106075177	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr10:106075177G>A	uc001kyf.3	-	2	1086	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ITPRIP_uc001kye.3_Silent_p.F211F|ITPRIP_uc001kyg.3_Silent_p.F211F|ITPRIP_uc021pxv.1_Silent_p.F211F	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	211						plasma membrane		p.F211F(2)		breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGAAGGGCACGAAAAGGTGGC	0.637000														30			14		0	0	0.003163	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73021239	73021239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:73021239C>T	uc001otu.3	+	0	1577	c.1556C>T	c.(1555-1557)cCc>cTc	p.P519L		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	519					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CAACTTGAACCCATACCCATC	0.612000														30			18		0	0	0.004990	0	0
SLC16A3	9123	broad.mit.edu	37	17	80194103	80194103	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:80194103G>A	uc002kea.3	+	1	369	c.219G>A	c.(217-219)ggG>ggA	p.G73G	SLC16A3_uc021ufm.1_Silent_p.G73G|SLC16A3_uc002keb.3_Silent_p.G73G|SLC16A3_uc002kec.3_Silent_p.G73G|SLC16A3_uc002ked.3_Silent_p.G73G|SLC16A3_uc021ufn.1_Silent_p.G73G|SLC16A3_uc021ufo.1_Silent_p.G73G	NM_001042422	NP_004198	O15427	MOT4_HUMAN	Homo sapiens solute carrier family 16, member 3 (monocarboxylic acid transporter 4) (SLC16A3), transcript variant 2, mRNA.	73					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TGCTCTACGGGACAGGTGAGG	0.642000														50			7		0	0	0.001984	0	0
PSD2	84249	broad.mit.edu	37	5	139189174	139189174	+	Missense_Mutation	SNP	G	A	A	rs147071263		TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:139189174G>A	uc003leu.1	+	1	354	c.149G>A	c.(148-150)cGa>cAa	p.R50Q		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	50					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCACGAGCGAAGGGGCACC	0.657000														33			5		0	0	0.000602	0	0
ABCA13	154664	broad.mit.edu	37	7	48278969	48278969	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:48278969C>T	uc003toq.2	+	8	1053	c.1029C>T	c.(1027-1029)gtC>gtT	p.V343V	ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	343					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACTATCTTGTCCATGCAGTCA	0.502000														53			10		0	0	0.006214	0	0
SLC6A19	340024	broad.mit.edu	37	5	1217042	1217042	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:1217042C>T	uc003jbw.4	+	7	1211	c.1155C>T	c.(1153-1155)atC>atT	p.I385I		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	385					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCTGCGACATCAACGCCTTCC	0.657000														99			36		0	0	0.004289	0	0
SP100	6672	broad.mit.edu	37	2	231307783	231307783	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:231307783A>T	uc002vqt.3	+	2	380	c.239A>T	c.(238-240)gAt>gTt	p.D80V	SP100_uc002vqs.3_Missense_Mutation_p.D80V|SP100_uc002vqu.1_Missense_Mutation_p.D80V|SP100_uc010zmb.2_Missense_Mutation_p.D80V|SP100_uc002vqq.2_Missense_Mutation_p.D80V|SP100_uc010zmc.2_Missense_Mutation_p.D55V|SP100_uc002vqv.2_Missense_Mutation_p.D45V	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	80	HSR.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGCCTCCGTGATCGTGATCTC	0.358000														110			6		0	0	0.003080	0	0
STAP1	26228	broad.mit.edu	37	4	68459033	68459033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:68459033G>A	uc003hde.4	+	7	867	c.785G>A	c.(784-786)gGa>gAa	p.G262E	STAP1_uc003hdf.3_Missense_Mutation_p.G262E	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.	262	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GAGACTCGAGGAAATTTAAGA	0.343000														78			14		0	0	0.004990	0	0
OR8H3	390152	broad.mit.edu	37	11	55890126	55890126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:55890126C>T	uc001nii.1	+	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AACTATATTTCCTTCACGGGC	0.423000														232			69		0	0	0.003610	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153275001	153275001	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:153275001G>A	uc001fbn.1	-	4	665	c.612C>T	c.(610-612)gtC>gtT	p.V204V		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	204					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGATGATGATGACATATTTGG	0.478000														86			48		0	0	0.003610	0	0
NRXN1	9378	broad.mit.edu	37	2	51254859	51254859	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:51254859G>A	uc021vhh.1	-	0	1474	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	NRXN1_uc021vhg.1_Missense_Mutation_p.R185C|NRXN1_uc021vhi.1_Missense_Mutation_p.R185C|NRXN1_uc021vhj.1_Missense_Mutation_p.R185C|NRXN1_uc021vhk.1_Missense_Mutation_p.R185C	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	185	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCACGTCACGAATCCACCCC	0.706000														9			5		0	0	0.000602	0	0
ACTL8	81569	broad.mit.edu	37	1	18152383	18152383	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:18152383T>G	uc001bat.3	+	2	686	c.470T>G	c.(469-471)gTg>gGg	p.V157G		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	157						cytoplasm|cytoskeleton		p.V157M(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CTGACCCGCGTGCAGCCTTTC	0.637000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			5		0	0	0.000602	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091331	17091331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:17091331G>A	uc002nfb.3	-	13	1734	c.1702C>T	c.(1702-1704)Cgt>Tgt	p.R568C		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	521						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGTGTTAAACGAATCGGTTTC	0.592000														42			11		0	0	0.001855	0	0
OR2M2	391194	broad.mit.edu	37	1	248343781	248343781	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:248343781C>T	uc010pzf.2	+	0	494	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCACATTTTCCTTCTCCTTT	0.423000														213			51		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr22:22664115A>T	uc021wml.1	+	31		c.2557A>T			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TGTTTAATTCAGCCTTGGAAG	0.413000														37			4		0	0	0.004482	0	0
GLB1	2720	broad.mit.edu	37	3	33038624	33038624	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:33038624G>A	uc011axk.1	-	16	2208	c.2091C>T	c.(2089-2091)acC>acT	p.T697T	GLB1_uc003cfh.1_Silent_p.T619T|GLB1_uc003cfi.1_Silent_p.T649T|GLB1_uc003cfj.1_Silent_p.T518T	NM_001079811	NP_001073279	P16278	BGAL_HUMAN	Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA.	649					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GATGATCGTAGGTCACAGATG	0.507000														73			25		0	0	0.003330	0	0
SELV	348303	broad.mit.edu	37	19	40009605	40009605	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:40009605C>T	uc021uum.1	+	3	1051	c.951C>T	c.(949-951)gtC>gtT	p.V317V		NM_182704		P59797	SELV_HUMAN	Homo sapiens selenoprotein V (SELV), mRNA.	317					cell redox homeostasis		selenium binding			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGAGACTGGTCCATTCCAAGA	0.587000														99			41		0	0	0.002522	0	0
PCDH8	5100	broad.mit.edu	37	13	53420448	53420448	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr13:53420448G>A	uc001vhi.3	-	0	2328	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F	PCDH8_uc001vhj.3_Silent_p.F708F	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	708	Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTGTTACCACGAAGCTGACAG	0.726000														16			9		0	0	0.004482	0	0
TBP	6908	broad.mit.edu	37	6	170871188	170871188	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr6:170871188T>C	uc003qxu.3	+	2	643	c.364T>C	c.(364-366)Ttc>Ctc	p.F122L	TBP_uc011ehf.2_Missense_Mutation_p.F102L|TBP_uc003qxt.3_Missense_Mutation_p.F122L|TBP_uc011ehg.1_Missense_Mutation_p.F122L	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	122					cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		ACCACAGCTCTTCCACTCACA	0.627000														30			17		0	0	0.008871	0	0
UBR4	23352	broad.mit.edu	37	1	19451079	19451079	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:19451079G>A	uc001bbi.3	-	64	9548	c.9544C>T	c.(9544-9546)Cca>Tca	p.P3182S	UBR4_uc001bbk.1_Missense_Mutation_p.P829S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3182					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACAGGAGGTGGGATTCGAGAA	0.458000														25			12		0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9062966	9062966	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:9062966G>A	uc002mkp.3	-	2	24684	c.24480C>T	c.(24478-24480)tcC>tcT	p.S8160S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8162	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTGCTAGAGGAGGTGACTT	0.542000														60			16		0	0	0.003163	0	0
VEGFC	7424	broad.mit.edu	37	4	177649045	177649045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:177649045C>T	uc003ius.1	-	2	869	c.439G>A	c.(439-441)Gcg>Acg	p.A147T		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	147					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.A147V(1)|p.A147A(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GTGTTTGTCGCGACTCCAAAC	0.493000														48			15		0	0	0.002450	0	0
COL6A6	131873	broad.mit.edu	37	3	130380960	130380960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:130380960G>A	uc010htl.3	+	33	6341	c.6310G>A	c.(6310-6312)Gaa>Aaa	p.E2104K	COL6A6_uc003eni.4_Missense_Mutation_p.E203K	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	2104	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTTAAAGAAGGAATCCTTGCG	0.433000														50			10		0	0	0.008291	0	0
HAVCR1	26762	broad.mit.edu	37	5	156482325	156482325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:156482325G>A	uc010jij.1	-	2	451	c.266C>T	c.(265-267)tCt>tTt	p.S89F	HAVCR1_uc011ddl.1_5'Flank|HAVCR1_uc003lwi.2_Missense_Mutation_p.S89F|HAVCR1_uc021ygj.1_Missense_Mutation_p.S89F|HAVCR1_uc021ygk.1_5'Flank|HAVCR1_uc011ddm.2_Missense_Mutation_p.S89F	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	89	Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TATGGTCAAAGAGACATCCCT	0.468000														444			164		0	0	0.003610	0	0
SBK2	646643	broad.mit.edu	37	19	56042631	56042631	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:56042631G>A	uc010ygc.2	-	2	350	c.335C>T	c.(334-336)tCg>tTg	p.S112L		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	112	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CGCGCCCAGCGAGAGCCCCAC	0.667000														17			4		0	0	0.000248	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599059	136599059	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr6:136599059C>T	uc003qgx.1	-	3	1213	c.960G>A	c.(958-960)tcG>tcA	p.S320S	BCLAF1_uc003qgy.1_Silent_p.S318S|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.S318S|BCLAF1_uc003qgw.1_Silent_p.S320S	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	320					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CAGGATAAAACGAGGAACGGC	0.398000														68			11		0	0	0.004007	0	0
IL9R	3581	broad.mit.edu	37	X	155233493	155233493	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:155233493G>A	uc004fnv.1	+	3	585	c.406G>A	c.(406-408)Gac>Aac	p.D136N	IL9R_uc010nvn.2_Missense_Mutation_p.D115N|IL9R_uc004fnu.1_Nonsense_Mutation_p.W180*	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	136					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGCCTGGTGGACCCGGAGTA	0.622000														26			15		0	0	0.006122	0	0
MYO18A	399687	broad.mit.edu	37	17	27421799	27421799	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:27421799A>C	uc002hdt.1	-	29	4737	c.4579T>G	c.(4579-4581)Tct>Gct	p.S1527A	MYO18A_uc010wbc.1_Missense_Mutation_p.S1069A|MYO18A_uc002hds.2_Missense_Mutation_p.S1069A|MYO18A_uc010csa.1_Missense_Mutation_p.S1527A|MYO18A_uc002hdu.1_Missense_Mutation_p.S1527A	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1527					DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCTTGGGAAGAAATGTCCTGG	0.527000														89			27		0	0	0.006320	0	0
EDN1	1906	broad.mit.edu	37	6	12296235	12296235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr6:12296235G>A	uc003nae.4	+	4	908	c.574G>A	c.(574-576)Gat>Aat	p.D192N	EDN1_uc003nad.3_3'UTR|EDN1_uc003naf.4_Missense_Mutation_p.D191N	NM_001955	NP_001946	P05305	EDN1_HUMAN	Homo sapiens endothelin 1 (EDN1), transcript variant 1, mRNA.	192					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of JUN kinase activity|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				ATCTTTTCATGATCCCAAGCT	0.448000														123			45		0	0	0.003610	0	0
RBMY1A3P	286557	broad.mit.edu	37	Y	9160442	9160442	+	RNA	SNP	A	C	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrY:9160442A>C	uc004frl.1	-	0		c.42T>G								Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA.																		TTGAGGCCACAAATGAAAAGC	0.348000														20			3		0	0	0.000248	0	0
WDR90	197335	broad.mit.edu	37	16	716594	716594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr16:716594C>T	uc002cii.1	+	37	4934	c.4880C>T	c.(4879-4881)aCg>aTg	p.T1627M	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cin.1_Missense_Mutation_p.T242M|WDR90_uc002cio.1_Missense_Mutation_p.T226M|WDR90_uc010bqx.1_Intron|RHOT2_uc010uum.2_5'Flank|RHOT2_uc002cip.3_5'Flank|RHOT2_uc002ciq.3_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1627										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCTGCCACCACGGAGGTAAAC	0.652000														14			18		0	0	0.001523	0	0
ANKRD36	375248	broad.mit.edu	37	2	97784202	97784202	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:97784202C>T	uc010yva.2	+	2	678	c.434C>T	c.(433-435)tCc>tTc	p.S145F	ANKRD36_uc002sxn.2_Missense_Mutation_p.S145F|ANKRD36_uc021vlk.1_Missense_Mutation_p.S145F|ANKRD36_uc010yuz.1_Non-coding_Transcript|ANKRD36_uc010fic.2_5'UTR|ANKRD36_uc002sxo.2_Missense_Mutation_p.S145F|ANKRD36_uc002sxp.3_Non-coding_Transcript	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	145										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GAAGATACATCCATGATAGAA	0.368000														36			20		0	0	0.004656	0	0
PDE3A	5139	broad.mit.edu	37	12	20799828	20799828	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:20799828G>A	uc001reh.2	+	11	2549	c.2509G>A	c.(2509-2511)Gat>Aat	p.D837N	PDE3A_uc021qwa.1_Missense_Mutation_p.D515N	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	837	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AGCCATGCACGATTATGATCA	0.418000														125			28		0	0	0.007291	0	0
FGD5	152273	broad.mit.edu	37	3	14905767	14905767	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:14905767G>A	uc003bzc.3	+	2	2768	c.2658_splice	c.e2+1	p.K886_splice	FGD5_uc011avk.2_Splice_Site_p.K886_splice	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	886					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCACCCACAAGGTAGGGCACC	0.597000														53			19		0	0	0.008871	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097693	43097693	+	Splice_Site	SNP	G	A	A	rs146875157	byFrequency	TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:43097693G>A	uc002oud.2	-	2	526	c.424_splice	c.e2+1	p.P142_splice	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA.	142	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane		p.P142T(1)|p.P142S(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				AATCACTCACGATGTACGCTG	0.498000														59			18		0	0	0.008871	0	0
NLRP13	126204	broad.mit.edu	37	19	56423098	56423098	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:56423098G>A	uc010ygg.2	-	4	2110	c.2085C>T	c.(2083-2085)atC>atT	p.I695I		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	695							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCCTTTCAAGGATGTGACTGC	0.383000														80			23		0	0	0.006320	0	0
CACNA1E	777	broad.mit.edu	37	1	181727218	181727218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:181727218G>A	uc009wxt.3	+	30	4660	c.4465G>A	c.(4465-4467)Gcc>Acc	p.A1489T	CACNA1E_uc001gow.3_Missense_Mutation_p.A1489T|CACNA1E_uc009wxs.3_Missense_Mutation_p.A1470T|CACNA1E_uc001gox.1_Missense_Mutation_p.A715T	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1489					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCCATGATCGCCTTGAATAC	0.552000														63			6		0	0	0.001168	0	0
NOLC1	9221	broad.mit.edu	37	10	103921610	103921611	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr10:103921610_103921611CC>TT	uc001kup.2	+	11	2134_2135	c.1899_1900CC>TT	c.(1897-1902)tcccca>tcTTca	p.P634S	NOLC1_uc001kuo.2_Missense_Mutation_p.P624S|NOLC1_uc001kuq.2_Missense_Mutation_p.P625S|NOLC1_uc009xxb.1_Missense_Mutation_p.P343S|NOLC1_uc001kur.2_Missense_Mutation_p.P343S	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.	624					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GGGCATCATCCCCATTCCGAAG	0.470000														35			12		0	0	0.004672	0	0
FAM209B	388799	broad.mit.edu	37	20	55108414	55108414	+	Missense_Mutation	SNP	C	T	T	rs140276541		TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr20:55108414C>T	uc002xxz.3	+	0	113	c.17C>T	c.(16-18)tCg>tTg	p.S6L	FAM209B_uc010zzh.2_Intron	NM_001013646	NP_001013668	Q5JX69	CT107_HUMAN	Homo sapiens family with sequence similarity 209, member B (FAM209B), mRNA.	6						integral to membrane											ACGCTGAAATCGTCCCTGGTC	0.572000														110			55		0	0	0.003610	0	0
EP300	2033	broad.mit.edu	37	22	41537070	41537070	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr22:41537070C>T	uc003azl.4	+	9	2292	c.1897C>T	c.(1897-1899)Cta>Tta	p.L633L		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	633	KIX.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTACCACCTTCTAGCTGAGAA	0.388000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					28			27		0	0	0.004656	0	0
CYP3A4	1576	broad.mit.edu	37	7	99365994	99365994	+	Missense_Mutation	SNP	G	A	A	rs55901263		TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:99365994G>A	uc003urv.2	-	6	760	c.653C>T	c.(652-654)cCa>cTa	p.P218L	CYP3A4_uc003urw.2_Missense_Mutation_p.P218L|CYP3A4_uc011kiz.2_Missense_Mutation_p.P177L	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	218			P -> R (in allele CYP3A4*5; dbSNP:rs55901263).		alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	GAGAAAGAATGGATCCAAAAA	0.333000														60			12		0	0	0.001855	0	0
GH1	2688	broad.mit.edu	37	17	61995424	61995424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:61995424C>T	uc002jdj.3	-	2	306	c.244G>A	c.(244-246)Gag>Aag	p.E82K	GH1_uc002jdi.3_Missense_Mutation_p.E67K|GH1_uc002jdk.3_Intron|GH1_uc002jdl.3_Intron|GH1_uc002jdm.3_Intron|GH1_uc002jdn.3_Missense_Mutation_p.E82K	NM_000515	NP_000506	P01241	SOMA_HUMAN	Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.	82					JAK-STAT cascade|glucose transport|growth hormone receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GGAATAGACTCTGAGAAACAG	0.542000														159			56		0	0	0.003610	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8660783	8660783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:8660783C>T	uc002mkj.1	-	11	1616	c.1342G>A	c.(1342-1344)Ggc>Agc	p.G448S	ADAMTS10_uc002mkk.1_Missense_Mutation_p.G80S	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	448	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGCCCCAGGCCCGAGCTGCCT	0.602000														100			33		0	0	0.002445	0	0
PLA2G3	50487	broad.mit.edu	37	22	31536233	31536233	+	Silent	SNP	G	A	A	rs2232175	byFrequency	TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr22:31536233G>A	uc003aka.3	-	0	237	c.108C>T	c.(106-108)gcC>gcT	p.A36A		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	36					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TGCCAGGGACGGCCTTGGTCA	0.662000														35			26		0	0	0.003954	0	0
COL4A5	1287	broad.mit.edu	37	X	107815064	107815064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:107815064G>A	uc022ccg.1	+	7	664	c.462G>A	c.(460-462)atG>atA	p.M154I	COL4A5_uc004enz.1_Missense_Mutation_p.M154I	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	154	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.M154I(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCCAGGTATGAAGGTAAGCA	0.348000									Alport syndrome with Diffuse Leiomyomatosis					13			22		0	0	0.002780	0	0
PIAS1	8554	broad.mit.edu	37	15	68434638	68434639	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:68434638_68434639GG>AT	uc002aqz.3	+	3	658_659	c.565_566GG>AT	c.(565-567)ggg>ATg	p.G189M	PIAS1_uc010ujx.2_Missense_Mutation_p.G189M	NM_016166	NP_057250	O75925	PIAS1_HUMAN	Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.	189	PINIT.				JAK-STAT cascade|androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|enzyme binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GGATATTTCTGGGACCAAATGT	0.342000														21			8		0	0	0.004672	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521271	125521271	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:125521271T>C	uc010flu.3	+	14	2621	c.2257T>C	c.(2257-2259)Tcc>Ccc	p.S753P	CNTNAP5_uc002tno.3_Missense_Mutation_p.S752P	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	752	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGCTTTCTTTCCTTCAAAGA	0.413000														23			4		0	0	0.001168	0	0
CPN2	1370	broad.mit.edu	37	3	194063009	194063009	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:194063009G>A	uc003fts.3	-	1	513	c.423C>T	c.(421-423)ttC>ttT	p.F141F	CPN2_uc021xix.1_Silent_p.F141F	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	141					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CCAGGTGCTGGAAAAGACCCT	0.602000														31			12		0	0	0.000978	0	0
MC3R	4159	broad.mit.edu	37	20	54824811	54824811	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr20:54824811G>A	uc002xxb.2	+	0	1024	c.912G>A	c.(910-912)ctG>ctA	p.L304L		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	341					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCCGGAGCCTGGAATTGCGCA	0.527000														117			93		0	0	0.003610	0	0
PKD1L1	168507	broad.mit.edu	37	7	47886648	47886648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:47886648G>A	uc003tny.2	-	31	5016	c.4982C>T	c.(4981-4983)tCc>tTc	p.S1661F		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1661					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATCCAATAAGGATAAATAGCC	0.388000														39			5		0	0	0.000602	0	0
TGM4	7047	broad.mit.edu	37	3	44926977	44926977	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:44926977G>A	uc003coc.4	+	1	253	c.180G>A	c.(178-180)ctG>ctA	p.L60L	TGM4_uc003coa.2_Silent_p.L60L|TGM4_uc003cob.2_Non-coding_Transcript	NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	60					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AACTGAAACTGGAATTCAGCA	0.577000														24			7		0	0	0.003080	0	0
CACNA1D	776	broad.mit.edu	37	3	53779704	53779704	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:53779704C>T	uc003dgv.4	+	23	3223	c.3060C>T	c.(3058-3060)atC>atT	p.I1020I	CACNA1D_uc003dgu.4_Silent_p.I1040I|CACNA1D_uc003dgy.4_Silent_p.I1020I|CACNA1D_uc003dgw.4_Silent_p.I687I|CACNA1D_uc003dgx.1_Silent_p.I168I	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1020					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ACATCATGATCGTCACCACCC	0.532000														60			20		0	0	0.004656	0	0
SCG3	29106	broad.mit.edu	37	15	51993377	51993377	+	Silent	SNP	A	G	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:51993377A>G	uc002abh.3	+	9	1546	c.1143A>G	c.(1141-1143)ggA>ggG	p.G381G	SCG3_uc010ufz.2_Silent_p.G149G	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	381					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AGGAATATGGAAGCTTGAAGG	0.413000														64			24		0	0	0.002780	0	0
MYH7	4625	broad.mit.edu	37	14	23894119	23894119	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr14:23894119C>T	uc001wjx.3	-	21	2644	c.2538G>A	c.(2536-2538)gaG>gaA	p.E846E		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	846			E -> Q (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCATCTCCTTCTCTCTTTCTG	0.547000														46			22		0	0	0.003954	0	0
SPATA20	64847	broad.mit.edu	37	17	48632649	48632649	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:48632649C>T	uc002ird.3	+	15	2355	c.2214C>T	c.(2212-2214)gtC>gtT	p.V738V	SPATA20_uc002irc.3_Silent_p.V389V|SPATA20_uc002ire.3_Silent_p.V678V|SPATA20_uc002irf.3_Silent_p.V722V|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	722					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGCAGTGCGTCCACTCTGTCT	0.587000														19			23		0	0	0.001786	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102526637	102526637	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:102526637C>T	uc003kod.4	+	28	3966	c.3447C>T	c.(3445-3447)tcC>tcT	p.S1149S	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Silent_p.S1128S|PPIP5K2_uc003kof.3_Silent_p.S331S	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	1149					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTCTTGCTTCCATTGCTTCTC	0.373000														69			20		0	0	0.001882	0	0
KIAA0922	23240	broad.mit.edu	37	4	154523767	154523767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:154523767C>T	uc010ipp.3	+	22	2579	c.2527C>T	c.(2527-2529)Cgc>Tgc	p.R843C	KIAA0922_uc003inm.4_Missense_Mutation_p.R842C|KIAA0922_uc010ipq.3_Missense_Mutation_p.R611C	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	842						integral to membrane		p.T842T(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CCTAGAATTTCGCTTCACTCT	0.498000														61			22		0	0	0.001882	0	0
USH2A	7399	broad.mit.edu	37	1	216246511	216246511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:216246511C>T	uc001hku.1	-	27	6091	c.5704G>A	c.(5704-5706)Gga>Aga	p.G1902R		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1902	Fibronectin type-III 5.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGTCATTTCCCCTGCAGTTA	0.488000										HNSCC(13;0.011)				16			18		0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179583311	179583311	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:179583311C>T	uc021vsy.1	-	81	21015	c.20790G>A	c.(20788-20790)gtG>gtA	p.V6930V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V3591V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7857	Ig-like 51.						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)			CCAATCTTTTCACAAAGGTGG	0.418000														39			16		0	0	0.004990	0	0
LTBP1	4052	broad.mit.edu	37	2	33585818	33585818	+	Silent	SNP	A	G	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:33585818A>G	uc021vft.1	+	26	4178	c.4155A>G	c.(4153-4155)gaA>gaG	p.E1385E	LTBP1_uc002rou.3_Silent_p.E1059E|LTBP1_uc002rov.3_Silent_p.E1006E|LTBP1_uc010ymz.2_Silent_p.E1017E|LTBP1_uc010yna.2_Silent_p.E964E|LTBP1_uc010ynb.2_Silent_p.E283E	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1385	TB 3.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ATAACTGCGAAATCTTCCCCT	0.498000														49			19		0	0	0.008871	0	0
ITPR1	3708	broad.mit.edu	37	3	4859857	4859857	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:4859857C>T	uc003bqc.3	+	58	8264	c.7914C>T	c.(7912-7914)atC>atT	p.I2638I	ITPR1_uc021wsi.1_Silent_p.I2605I|ITPR1_uc021wsj.1_Silent_p.I2590I|ITPR1_uc011asu.2_Silent_p.I616I|ITPR1_uc010hcc.2_Silent_p.I373I|ITPR1_uc011asv.2_Silent_p.I329I	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2653					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TGTGCTTCATCGTCCTGGTGA	0.468000														27			10		0	0	0.008291	0	0
ADAM29	11086	broad.mit.edu	37	4	175898197	175898197	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:175898197G>A	uc003iuc.3	+	4	2191	c.1521G>A	c.(1519-1521)agG>agA	p.R507R	ADAM29_uc003iud.3_Silent_p.R507R|ADAM29_uc010irr.3_Silent_p.R507R|ADAM29_uc011cki.2_Silent_p.R507R|ADAM29_uc021xuo.1_Silent_p.R507R	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	507	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGTGTAGGAGGATTTTTGGTG	0.448000														67			26		0	0	0.004656	0	0
LPHN2	23266	broad.mit.edu	37	1	82372750	82372750	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:82372750C>A	uc001dit.4	+	3	303	c.122C>A	c.(121-123)tCc>tAc	p.S41Y	LPHN2_uc001dis.3_Missense_Mutation_p.S41Y|LPHN2_uc001diu.3_Missense_Mutation_p.S41Y|LPHN2_uc001div.3_Missense_Mutation_p.S41Y|LPHN2_uc009wcd.3_Missense_Mutation_p.S41Y	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	41	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CGAGAATTATCCTGTGAAGGT	0.393000														40			10		6.40141e-05	0.00018498	0.000978	1	0
ACAP3	116983	broad.mit.edu	37	1	1230920	1230920	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:1230920G>A	uc001aeb.2	-	18	1794	c.1720C>T	c.(1720-1722)Cgt>Tgt	p.R574C	ACAP3_uc001ady.2_Missense_Mutation_p.R304C|ACAP3_uc001aea.2_Missense_Mutation_p.R532C	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA.	574					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CGGAACTTACGATCCAGGGTG	0.667000														21			5		0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9059418	9059418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:9059418G>A	uc002mkp.3	-	2	28232	c.28028C>T	c.(28027-28029)tCa>tTa	p.S9343L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9345	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGGTGTCTGATGACATTGT	0.512000														76			28		0	0	0.005443	0	0
TEX11	56159	broad.mit.edu	37	X	70093151	70093151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:70093151C>T	uc004dyl.3	-	4	373	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	TEX11_uc004dym.3_Missense_Mutation_p.E56K	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	71							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					ACTGCCATTTCTTCAATCTGG	0.358000														15			13		0	0	0.002450	0	0
SCN7A	6332	broad.mit.edu	37	2	167322306	167322306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:167322306G>A	uc002udu.2	-	6	986	c.856C>T	c.(856-858)Cca>Tca	p.P286S	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	286					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ATATAATATGGGTTTCCAGTT	0.393000														63			47		0	0	0.003610	0	0
TKT	7086	broad.mit.edu	37	3	53265528	53265528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:53265528G>A	uc003dgo.3	-	6	959	c.787C>T	c.(787-789)Ccc>Tcc	p.P263S	TKT_uc003dgp.2_5'Flank|TKT_uc011beo.1_Missense_Mutation_p.P216S|TKT_uc003dgq.3_Missense_Mutation_p.P263S|TKT_uc011beq.2_Missense_Mutation_p.P271S|TKT_uc011ber.2_Missense_Mutation_p.P65S	NM_001135055	NP_001128527	P29401	TKT_HUMAN	Homo sapiens transketolase (TKT), transcript variant 2, mRNA.	263					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	ATGTTTTTGGGGAGGGGCTTC	0.557000														33			16		0	0	0.008871	0	0
ARSH	347527	broad.mit.edu	37	X	2933118	2933118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:2933118G>A	uc011mhj.2	+	3	448	c.448G>A	c.(448-450)Gac>Aac	p.D150N		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	150						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ACTTTTAAGCGACTGCCAGGC	0.532000														6			10		0	0	0.008291	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499593	59499593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:59499593G>A	uc002agb.3	+	0	552	c.454G>A	c.(454-456)Gga>Aga	p.G152R	MYO1E_uc002aga.3_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	Homo sapiens lactate dehydrogenase A-like 6B (LDHAL6B), mRNA.	152					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	CCAAGAAAAGGGAGAAACGCG	0.423000														70			28		0	0	0.007291	0	0
LTF	4057	broad.mit.edu	37	3	46490375	46490375	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:46490375C>T	uc003cpq.3	-	8	1432	c.1191G>A	c.(1189-1191)gaG>gaA	p.E397E	LTF_uc003fzr.3_Silent_p.E353E|LTF_uc010hjh.3_Silent_p.E397E|LTF_uc003cpr.3_Silent_p.E384E	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	397	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	CGATGCAGTCCTCTGTGGTGG	0.642000														39			15		0	0	0.006122	0	0
MXRA5	25878	broad.mit.edu	37	X	3228297	3228297	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:3228297G>A	uc004crg.4	-	6	8104	c.7947C>T	c.(7945-7947)atC>atT	p.I2649I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2649	Ig-like C2-type 11.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CACCATTGATGATGCTGACCA	0.627000														25			29		0	0	0.006320	0	0
GRK7	131890	broad.mit.edu	37	3	141497384	141497384	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:141497384C>T	uc011bnd.2	+	0	342	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	86	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CGGCAACCTTCCTAGAGGACG	0.662000														37			6		0	0	0.001984	0	0
TMC3	342125	broad.mit.edu	37	15	81627285	81627285	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:81627285C>T	uc021ssk.1	-	20	2235	c.2235G>A	c.(2233-2235)aaG>aaA	p.K745K	TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	745						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TTGGAAGCTTCTTGGTGCTTT	0.547000														47			4		0	0	0.000602	0	0
LPAR1	1902	broad.mit.edu	37	9	113704020	113704020	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:113704020C>T	uc011lwo.2	-	1	479	c.477G>A	c.(475-477)cgG>cgA	p.R159R	LPAR1_uc004bfa.3_Silent_p.R158R|LPAR1_uc011lwm.2_Silent_p.R159R|LPAR1_uc004bfc.3_Silent_p.R158R|LPAR1_uc011lwn.2_Silent_p.R140R|LPAR1_uc004bfb.3_Silent_p.R158R|LPAR1_uc010mub.3_Silent_p.R158R	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	158					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		p.R158W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GGTTGCTCATCCGTGTGTGGA	0.537000														46			11		0	0	0.000978	0	0
ZNF831	128611	broad.mit.edu	37	20	57766725	57766725	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr20:57766725G>A	uc002yan.3	+	0	651	c.651G>A	c.(649-651)ggG>ggA	p.G217G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	217						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGGAGGAAGGGGACAAGGCCG	0.687000														55			21		0	0	0.001882	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29848290	29848290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:29848290G>A	uc002hgn.1	+	4	899	c.670G>A	c.(670-672)Gat>Aat	p.D224N	RAB11FIP4_uc002hgo.2_Missense_Mutation_p.D122N	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA.	224	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGAGGGTGACGATGTGGACTG	0.587000														63			25		0	0	0.003330	0	0
NPNT	255743	broad.mit.edu	37	4	106888537	106888537	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:106888537G>A	uc011cfd.2	+	11	1841	c.1628G>A	c.(1627-1629)gGa>gAa	p.G543E	NPNT_uc011cfc.2_Missense_Mutation_p.G530E|NPNT_uc011cfe.2_Missense_Mutation_p.G514E|NPNT_uc003hya.3_Missense_Mutation_p.G513E|NPNT_uc011cff.2_Missense_Mutation_p.G484E	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	513	MAM.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GCCCTGTGGGGAAGAAATGGT	0.582000														32			12		0	0	0.001368	0	0
RNF17	56163	broad.mit.edu	37	13	25433165	25433165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr13:25433165G>A	uc001upr.3	+	25	3678	c.3637G>A	c.(3637-3639)Gaa>Aaa	p.E1213K	RNF17_uc010tdd.1_Missense_Mutation_p.E1072K|RNF17_uc010tde.2_Missense_Mutation_p.E1209K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E1152K|RNF17_uc010aac.3_Missense_Mutation_p.E411K|RNF17_uc010aad.3_Missense_Mutation_p.E265K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1213					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.E1213*(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AATGACAAATGAAATTCAAAG	0.308000														21			7		0	0	0.001984	0	0
CLN3	1201	broad.mit.edu	37	16	28502851	28502851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr16:28502851G>A	uc002dpo.3	-	1	400	c.77C>T	c.(76-78)cCt>cTt	p.P26L	NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Intron|CLN3_uc002dpm.3_Intron|CLN3_uc010vcu.2_Intron|CLN3_uc010vcv.2_Missense_Mutation_p.P26L|CLN3_uc002dpp.3_Missense_Mutation_p.P26L|CLN3_uc021tfs.1_5'Flank|CLN3_uc002dpt.1_5'UTR|CLN3_uc002dpq.1_Missense_Mutation_p.P26L|CLN3_uc010bye.1_Missense_Mutation_p.P26L|CLN3_uc002dpr.1_Non-coding_Transcript|CLN3_uc010byf.1_Non-coding_Transcript|CLN3_uc002dps.1_Missense_Mutation_p.L28F|CLN3_uc002dpu.1_Intron|CLN3_uc002dpw.1_Intron|CLN3_uc010vcw.1_Intron|CLN3_uc002dqa.2_Missense_Mutation_p.P77L|CLN3_uc010vcx.1_5'UTR|CLN3_uc002dpx.1_Missense_Mutation_p.P26L|CLN3_uc002dpy.1_Intron|CLN3_uc002dpz.1_Intron	NM_000086	NP_001035897	Q13286	CLN3_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA.	26					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	Golgi membrane|Golgi stack|autophagic vacuole|caveola|cytosol|early endosome|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						GTCCAACAGAGGGAGCCGGGG	0.632000											OREG0023706	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1			20		0	0	0.003330	0	0
CSF3	1440	broad.mit.edu	37	17	38173119	38173119	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:38173119C>T	uc002htp.3	+	4	645	c.531C>T	c.(529-531)ttC>ttT	p.F177F	CSF3_uc002hto.3_Silent_p.F174F|CSF3_uc002htq.3_Silent_p.F170F|CSF3_uc021tww.1_Silent_p.F138F|CSF3_uc021twx.1_Silent_p.F141F|CSF3_uc010wep.2_Silent_p.F134F	NM_000759	NP_000750	P09919	CSF3_HUMAN	Homo sapiens colony stimulating factor 3 (granulocyte) (CSF3), transcript variant 1, mRNA.	177					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCTCTGCTTTCCAGCGCCGGG	0.647000														33			13		0	0	0.001855	0	0
OR8K1	390157	broad.mit.edu	37	11	56113754	56113754	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:56113754C>T	uc010rjg.2	+	0	240	c.240C>T	c.(238-240)tcC>tcT	p.S80S		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TTGGTTACTCCACTGTCATTG	0.408000										HNSCC(65;0.19)				89			17		0	0	0.006122	0	0
C11orf74	119710	broad.mit.edu	37	11	36654869	36654869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:36654869G>A	uc001mwy.1	+	2	245	c.172G>A	c.(172-174)Gat>Aat	p.D58N	C11orf74_uc001mwx.1_Intron|C11orf74_uc001mwz.1_Intron|C11orf74_uc010rfe.1_Non-coding_Transcript|C11orf74_uc010rfd.2_Non-coding_Transcript	NM_138787	NP_620142	Q86VG3	CK074_HUMAN	Homo sapiens chromosome 11 open reading frame 74 (C11orf74), mRNA.	58										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				GTTTGGAACTGATTCTTCAGA	0.338000														39			14		0	0	0.006122	0	0
MYL1	4632	broad.mit.edu	37	2	211159076	211159076	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:211159076T>C	uc002vec.3	-	3	500	c.371A>G	c.(370-372)aAg>aGg	p.K124R	MYL1_uc002veb.3_Missense_Mutation_p.K80R	NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	124					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GGCCTGGTCCTTGTTGTTGGA	0.448000														49			15		0	0	0.003163	0	0
CPXM2	119587	broad.mit.edu	37	10	125516860	125516860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr10:125516860C>T	uc001lhk.1	-	11	2111	c.1786G>A	c.(1786-1788)Gat>Aat	p.D596N	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	596					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TAGCTGAAATCGTTCAGACCT	0.493000														28			14		0	0	0.001855	0	0
DNMBP	23268	broad.mit.edu	37	10	101654768	101654768	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr10:101654768G>A	uc001kqj.2	-	10	3183	c.3091C>T	c.(3091-3093)Cga>Tga	p.R1031*	DNMBP_uc010qpl.1_5'UTR|DNMBP_uc001kqg.2_Nonsense_Mutation_p.R319*|DNMBP_uc001kqh.2_Nonsense_Mutation_p.R663*	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1031	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTTGCATTCGGAAGTTTTTT	0.363000														16			5		0	0	0.000602	0	0
DNM1	1759	broad.mit.edu	37	9	130984795	130984795	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:130984795C>T	uc022bob.1	+	7	1135	c.1048C>T	c.(1048-1050)Cag>Tag	p.Q350*	DNM1_uc022bnx.1_Nonsense_Mutation_p.Q350*|DNM1_uc022bny.1_Nonsense_Mutation_p.Q350*|DNM1_uc022bnz.1_Nonsense_Mutation_p.Q350*|DNM1_uc022boa.1_Nonsense_Mutation_p.Q350*	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	350					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	p.Q350E(3)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CTCAGGAGATCAGATCGACAC	0.607000														50			17		0	0	0.007413	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147374	26147374	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr16:26147374G>A	uc002dof.3	+	1	1568	c.1176G>A	c.(1174-1176)aaG>aaA	p.K392K		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	392					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		ACAAAACCAAGGGGTTCCCTT	0.512000														15			15		0	0	0.002450	0	0
ZNF536	9745	broad.mit.edu	37	19	31039424	31039424	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:31039424G>A	uc002nsu.1	+	3	3036	c.2898G>A	c.(2896-2898)agG>agA	p.R966R	ZNF536_uc010edd.1_Silent_p.R966R	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	966					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTCCCAGAGGAAGTCCGAGA	0.577000														91			21		0	0	0.002299	0	0
TRIML2	205860	broad.mit.edu	37	4	189013006	189013006	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:189013006C>T	uc011cle.1	-	7	1132	c.910G>A	c.(910-912)Gat>Aat	p.D304N	TRIML2_uc003izj.1_Missense_Mutation_p.D57N|TRIML2_uc003izk.1_Missense_Mutation_p.D37N|TRIML2_uc003izl.2_Missense_Mutation_p.D229N	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	229	B30.2/SPRY.						ligase activity	p.V304V(1)|p.W303C(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CCAGCCCCATCCTGCTGCCCA	0.527000														66			24		0	0	0.003330	0	0
LRTM1	57408	broad.mit.edu	37	3	54959082	54959082	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:54959082A>T	uc003dhl.3	-	1	302	c.168T>A	c.(166-168)caT>caA	p.H56Q	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	56						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TATCTTGTAAATGCAGCGTTC	0.443000														34			12		0	0	0.000978	0	0
BAG4	9530	broad.mit.edu	37	8	38065064	38065064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:38065064C>T	uc003xky.2	+	2	695	c.413C>T	c.(412-414)cCa>cTa	p.P138L	BAG4_uc003xkz.2_Missense_Mutation_p.P102L	NM_004874	NP_004865	O95429	BAG4_HUMAN	Homo sapiens BCL2-associated athanogene 4 (BAG4), transcript variant 1, mRNA.	138					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				GCGTATGGTCCAACATACCCC	0.423000														27			15		0	0	0.004007	0	0
HBD	3045	broad.mit.edu	37	11	5255382	5255382	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:5255382G>A	uc001maf.1	-	1	349	c.154C>T	c.(154-156)Cct>Tct	p.P52S		NM_000519	NP_000510	P02042	HBD_HUMAN	Homo sapiens hemoglobin, delta (HBD), mRNA.	52			P -> R (in Adria; dbSNP:rs34489183).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGCATCAGGAGAGGACAGA	0.537000														75			25		0	0	0.003330	0	0
OR52E8	390079	broad.mit.edu	37	11	5878415	5878415	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:5878415G>A	uc010qzr.2	-	0	518	c.518C>T	c.(517-519)cCc>cTc	p.P173L	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L172L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCACAGAAGGGCAGCCTCAG	0.507000														62			29		0	0	0.007291	0	0
ANKRD5	63926	broad.mit.edu	37	20	10030179	10030179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr20:10030179C>T	uc002wno.3	+	6	1355	c.962C>T	c.(961-963)cCa>cTa	p.P321L	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.P321L|ANKRD5_uc010gbz.3_Missense_Mutation_p.P132L	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	321							calcium ion binding	p.P321S(1)		breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						GCCAAAAATCCAAATCCACTG	0.527000														58			37		0	0	0.003271	0	0
OR9A2	135924	broad.mit.edu	37	7	142723915	142723915	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:142723915G>A	uc003wcc.1	-	0	305	c.305C>T	c.(304-306)tCc>tTc	p.S102F		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GGTCCCACAGGAAAAGTTGAG	0.463000														57			13		0	0	0.001368	0	0
CD33	945	broad.mit.edu	37	19	51729249	51729249	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:51729249C>T	uc002pwa.2	+	2	649	c.609C>T	c.(607-609)ccC>ccT	p.P203P	CD33_uc010eos.1_Silent_p.P203P|CD33_uc010eot.1_Silent_p.P76P|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	203	Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CCCCACGGCCCCAGGACCACG	0.612000														37			7		0	0	0.003080	0	0
FAT1	2195	broad.mit.edu	37	4	187534446	187534446	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:187534446G>A	uc003izf.3	-	12	9468	c.9280C>T	c.(9280-9282)Cat>Tat	p.H3094Y		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3094	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACGAGAAGATGATAAACAGCT	0.468000										HNSCC(5;0.00058)				36			16		0	0	0.007413	0	0
HEATR7A	727957	broad.mit.edu	37	8	145246704	145246704	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:145246704C>T	uc003zbk.4	+	8	1038	c.801C>T	c.(799-801)ctC>ctT	p.L267L	HEATR7A_uc003zbg.2_Silent_p.L267L|HEATR7A_uc003zbi.4_Silent_p.L267L|HEATR7A_uc003zbh.4_Silent_p.L267L|HEATR7A_uc011lla.1_Silent_p.L267L|HEATR7A_uc010mft.3_Silent_p.L267L	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	Homo sapiens HEAT repeat containing 7A (HEATR7A), transcript variant 1, mRNA.	267							binding			endometrium(2)|kidney(2)|lung(3)|skin(1)	8						CCAAGCTCCTCCCTGGGATTC	0.612000														18			4		0	0	0.000248	0	0
MTUS2	23281	broad.mit.edu	37	13	29598914	29598914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr13:29598914G>A	uc001usl.4	+	0	167	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	27						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAATAATAATGAAAGCATCTT	0.458000														37			12		0	0	0.000978	0	0
ASPHD1	253982	broad.mit.edu	37	16	29912768	29912768	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr16:29912768G>A	uc002dut.3	+	0	622	c.476G>A	c.(475-477)tGg>tAg	p.W159*	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_5'Flank|SEZ6L2_uc010vec.2_5'Flank|SEZ6L2_uc002dur.4_5'Flank|SEZ6L2_uc002duq.4_5'Flank|SEZ6L2_uc010ved.2_5'Flank|SEZ6L2_uc002dus.4_5'Flank|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA.	159	Gly-rich.				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CGCTACTCCTGGGCTGGGATG	0.692000														23			11		0	0	0.008291	0	0
TLR8	51311	broad.mit.edu	37	X	12939508	12939508	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:12939508C>T	uc004cvd.3	+	2	2573	c.2403C>T	c.(2401-2403)ttC>ttT	p.F801F	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Silent_p.F783F	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	783	LRRCT.				I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTGGAGATTTCCGAAGATGGA	0.433000														17			26		0	0	0.004656	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378025	55378025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:55378025C>T	uc002qhl.4	+	8	1270	c.1207C>T	c.(1207-1209)Cac>Tac	p.H403Y	KIR3DL2_uc002qho.4_Missense_Mutation_p.H403Y|KIR3DL2_uc010esh.3_Missense_Mutation_p.H386Y			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	403					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		ACAGTTGGATCACTGCGTTTT	0.512000														211			65		0	0	0.003610	0	0
PNCK	139728	broad.mit.edu	37	X	152938025	152938026	+	Missense_Mutation	DNP	GG	AA	AA	rs139296709	byFrequency	TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:152938025_152938026GG>AA	uc011myu.2	-	2	630_631	c.444_445CC>TT	c.(442-447)ctccgt>ctTTgt	p.R149C	PNCK_uc011myt.2_Missense_Mutation_p.R83C|PNCK_uc004fhz.4_5'UTR|PNCK_uc010nuh.2_Missense_Mutation_p.R149C|PNCK_uc011myv.2_Missense_Mutation_p.R93C|PNCK_uc011myw.2_Missense_Mutation_p.R93C	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	66	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGCACCTACGGAGCACTGCGA	0.683000														17			22		0	0	0.004672	0	0
FLG2	388698	broad.mit.edu	37	1	152327262	152327262	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:152327262G>A	uc001ezw.4	-	2	3073	c.3000C>T	c.(2998-3000)ggC>ggT	p.G1000G	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1000	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACCATGTTGGCCATAATTAG	0.498000														207			165		0	0	0.003610	0	0
ACAN	176	broad.mit.edu	37	15	89401563	89401563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:89401563G>A	uc010upo.1	+	11	6121	c.5747G>A	c.(5746-5748)aGc>aAc	p.S1916N	ACAN_uc010upp.1_Missense_Mutation_p.S1916N|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1916					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ATTGGGAGCAGCCTGCCCTCG	0.522000														53			15		0	0	0.003163	0	0
USP2	9099	broad.mit.edu	37	11	119228485	119228485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:119228485G>A	uc001pwm.4	-	9	1778	c.1483C>T	c.(1483-1485)Cca>Tca	p.P495S	USP2_uc001pwl.4_Missense_Mutation_p.P286S|USP2_uc001pwn.4_Missense_Mutation_p.P252S	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	495	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	p.P495Q(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AAGATCTTTGGGAACCTCTGG	0.502000														284			85		0	0	0.003610	0	0
GLYATL1	92292	broad.mit.edu	37	11	58711097	58711097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:58711097C>T	uc001nnh.2	+	1	156	c.106C>T	c.(106-108)Cca>Tca	p.P36S	GLYATL1_uc001nnf.3_5'UTR|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_5'UTR|GLYATL1_uc001nnj.2_5'UTR	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	0						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	cctgcaggatccaattgtgtc	0.468000														29			9		0	0	0.006214	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887371	12887371	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:12887371C>T	uc001auk.2	-	2	682	c.486G>A	c.(484-486)gtG>gtA	p.V162V		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	162										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGTCTAGGTTCACCATTTTCA	0.463000														234			97		0	0	0.003610	0	0
ADCY2	108	broad.mit.edu	37	5	7709339	7709339	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:7709339C>T	uc003jdz.1	+	9	1484	c.1417C>T	c.(1417-1419)Ccc>Tcc	p.P473S	ADCY2_uc011cmo.1_Missense_Mutation_p.P293S	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	473					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACGACGGAGCCCCCAGCATCT	0.592000														29			10		0	0	0.001368	0	0
MSN	4478	broad.mit.edu	37	X	64959629	64959629	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:64959629C>T	uc004dwf.3	+	12	1806	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S		NM_002444	NP_002435	P26038	MOES_HUMAN	Homo sapiens moesin (MSN), mRNA.	536					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GAGATGAGTCCAAGAAGACTG	0.522000			T	ALK	ALCL									17			22		0	0	0.001882	0	0
MPPED1	758	broad.mit.edu	37	22	43831060	43831060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr22:43831060G>A	uc011apz.2	+	2	771	c.430G>A	c.(430-432)Gac>Aac	p.D144N	MPPED1_uc011apv.2_Missense_Mutation_p.D111N|MPPED1_uc011apw.2_Missense_Mutation_p.D5N|MPPED1_uc011apx.2_Intron|MPPED1_uc011apy.2_Missense_Mutation_p.D111N	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.	111							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCCGTACGGCGACGTGCTGAT	0.657000														39			47		0	0	0.003610	0	0
SLC24A6	80024	broad.mit.edu	37	12	113770601	113770601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:113770601C>T	uc001tvc.3	-	1	293	c.83G>A	c.(82-84)aGg>aAg	p.R28K	SLC24A6_uc001tvd.1_Missense_Mutation_p.R28K	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	28					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						AGACGAGCCCCTAGTCCCAGA	0.607000														38			16		0	0	0.004990	0	0
FAM108A1	81926	broad.mit.edu	37	19	1881302	1881302	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:1881302G>A	uc002luf.3	-	1	670	c.264C>T	c.(262-264)gtC>gtT	p.V88V	FAM108A1_uc002lud.3_Silent_p.V88V|FAM108A1_uc002lue.3_Silent_p.V88V|FAM108A1_uc002lug.3_Silent_p.V88V	NM_031213	NP_112490	Q96GS6	F18A1_HUMAN	Homo sapiens family with sequence similarity 108, member A1 (FAM108A1), transcript variant 1, mRNA.	88						extracellular region	hydrolase activity			endometrium(2)|kidney(1)|lung(4)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(11;0.000137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGGGGAAGACCTCGATGG	0.692000														33			10		0	0	0.002780	0	0
PDLIM4	8572	broad.mit.edu	37	5	131607052	131607052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:131607052C>T	uc003kwo.3	+	4	640	c.563C>T	c.(562-564)tCc>tTc	p.S188F	BC030525_uc003kwm.4_Intron|PDLIM4_uc003kwn.3_Missense_Mutation_p.S188F|PDLIM4_uc003kwp.3_Missense_Mutation_p.S188F	NM_003687	NP_003678	P50479	PDLI4_HUMAN	Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA.	188							protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCTGGGCTCCGAGGTGTAC	0.667000														20			15		0	0	0.004007	0	0
CDH1	999	broad.mit.edu	37	16	68862142	68862142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr16:68862142C>T	uc002ewg.1	+	13	2354	c.2230C>T	c.(2230-2232)Cca>Tca	p.P744S	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Missense_Mutation_p.P683S	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	744					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTTACTGCCCCCAGAGGATGA	0.522000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer					48			39		0	0	0.005524	0	0
C6orf15	29113	broad.mit.edu	37	6	31079793	31079793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr6:31079793G>A	uc003nsk.1	-	1	343	c.343C>T	c.(343-345)Cct>Tct	p.P115S	PSORS1C1_uc003nsl.2_5'Flank|PSORS1C1_uc010jsj.2_5'Flank	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	115										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						ATCTGCCAAGGATCCTCAGGG	0.652000														55			17		0	0	0.001523	0	0
OR8K3	219473	broad.mit.edu	37	11	56085949	56085949	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:56085949A>G	uc010rjf.2	+	0	167	c.167A>G	c.(166-168)cAa>cGa	p.Q56R		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TCCAGGTTGCAAACCCCTATG	0.418000														121			38		0	0	0.006230	0	0
SNAPC4	6621	broad.mit.edu	37	9	139273457	139273457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:139273457G>A	uc004chh.3	-	20	2831	c.2822C>T	c.(2821-2823)cCa>cTa	p.P941L		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	941	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		ACCCGGGGCTGGGCGGCCGTG	0.701000														32			9		0	0	0.008291	0	0
SLC1A7	6512	broad.mit.edu	37	1	53600048	53600048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:53600048C>T	uc021onn.1	-	1	357	c.189G>A	c.(187-189)atG>atA	p.M63I	SLC1A7_uc021onm.1_Missense_Mutation_p.M63I|SLC1A7_uc001cuy.3_Missense_Mutation_p.M63I|SLC1A7_uc021ono.1_Non-coding_Transcript|SLC1A7_uc001cuz.4_Missense_Mutation_p.M63I	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	63						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GCAGGATCATCATCTTCAGCA	0.532000														22			11		0	0	0.003163	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190876	42190876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:42190876G>A	uc002ori.1	-	1	343	c.341C>T	c.(340-342)aCc>aTc	p.T114I	CEACAM7_uc010ehx.2_Missense_Mutation_p.T114I|CEACAM7_uc010ehy.1_Missense_Mutation_p.T114I	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	114	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GTCATTGTGGGTGACGTTCTG	0.428000														112			44		0	0	0.003610	0	0
FRAS1	80144	broad.mit.edu	37	4	79400617	79400617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:79400617G>A	uc003hlb.2	+	55	8628	c.8188G>A	c.(8188-8190)Gat>Aat	p.D2730N		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2725	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATCAGGCTCTGATTTTAAATC	0.463000														29			12		0	0	0.001855	0	0
ANK2	287	broad.mit.edu	37	4	114170951	114170951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:114170951G>A	uc003ibe.4	+	9	1023	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	ANK2_uc003ibd.4_Missense_Mutation_p.R287Q|ANK2_uc003ibf.4_Missense_Mutation_p.R308Q|ANK2_uc003ibc.2_Missense_Mutation_p.R284Q|ANK2_uc011cgb.1_Missense_Mutation_p.R323Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	308					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGTGCTGCACGAAGTGGGCAT	0.458000														58			15		0	0	0.008871	0	0
TMC2	117532	broad.mit.edu	37	20	2582822	2582822	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr20:2582822C>T	uc002wgf.1	+	10	1303	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C	TMC2_uc002wgg.1_Missense_Mutation_p.R414C|TMC2_uc010zpw.1_Missense_Mutation_p.R262C|TMC2_uc010zpx.1_Missense_Mutation_p.R261C	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	430						integral to membrane		p.R430H(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAGATTTCTTCGTGTCCTGGC	0.388000														57			17		0	0	0.004990	0	0
HOXA3	3200	broad.mit.edu	37	7	27148070	27148070	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:27148070G>A	uc011jzl.2	-	2	996	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C	HOXA3_uc003syk.3_Missense_Mutation_p.R266C	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	266					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						ACGGGGCTGCGACTTGGAGAC	0.602000														63			80		0	0	0.003610	0	0
P2RY14	9934	broad.mit.edu	37	3	150931748	150931748	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:150931748T>A	uc003eyr.1	-	2	835	c.357A>T	c.(355-357)agA>agT	p.R119S	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.R119S|P2RY14_uc021xfz.1_Missense_Mutation_p.R119S	NM_001081455	NP_055694	Q15391	P2Y14_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 14 (P2RY14), transcript variant 1, mRNA.	119						integral to membrane|plasma membrane	UDP-activated nucleotide receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTTATAATATCTGTCAAAGC	0.453000														34			16		0	0	0.003163	0	0
ESYT1	23344	broad.mit.edu	37	12	56530608	56530608	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:56530608C>T	uc001sjr.3	+	15	1861	c.1743C>T	c.(1741-1743)atC>atT	p.I581I	ESYT1_uc001sjq.3_Silent_p.I571I	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	571						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CAGAACTCATCCTGGACCAGT	0.552000														38			34		0	0	0.002096	0	0
ZNF507	22847	broad.mit.edu	37	19	32845425	32845425	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:32845425C>T	uc002nte.3	+	2	1961	c.1689C>T	c.(1687-1689)acC>acT	p.T563T	ZNF507_uc002ntc.2_Silent_p.T563T|ZNF507_uc010xrn.1_Silent_p.T563T|ZNF507_uc002ntd.3_Silent_p.T563T	NM_001136156	NP_055725	Q8TCN5	ZN507_HUMAN	Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					GCAACTCCACCTTGGTAGCAC	0.433000														41			21		0	0	0.002780	0	0
VTCN1	79679	broad.mit.edu	37	1	117699392	117699392	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:117699392G>A	uc001ehb.3	-	2	354	c.249C>T	c.(247-249)ttC>ttT	p.F83F	VTCN1_uc021osn.1_5'UTR|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_5'UTR|VTCN1_uc009whf.2_Intron	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.	83	Ig-like V-type 1.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TGCCTTCTTTGAACTCATGGA	0.468000														70			23		0	0	0.003330	0	0
DCTN1	1639	broad.mit.edu	37	2	74593378	74593378	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:74593378G>A	uc002skx.3	-	22	3071	c.2753C>T	c.(2752-2754)cCc>cTc	p.P918L	SLC4A5_uc002skl.3_5'Flank|DCTN1_uc002skt.2_5'Flank|DCTN1_uc002skv.3_Missense_Mutation_p.P784L|DCTN1_uc002sku.3_Missense_Mutation_p.P784L|DCTN1_uc002skw.2_Missense_Mutation_p.P911L|DCTN1_uc010ffd.3_Missense_Mutation_p.P898L|DCTN1_uc002sky.3_Missense_Mutation_p.P881L	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	918					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TACCTTGCTGGGGGGCCGCTC	0.562000														72			29		0	0	0.001786	0	0
RASGRF2	5924	broad.mit.edu	37	5	80382667	80382667	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:80382667G>A	uc003kha.2	+	8	1335	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.E257K	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	429	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding	p.E429*(2)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AATGCACGATGAAGTCAGCGA	0.468000														28			6		0	0	0.001168	0	0
SLC6A13	6540	broad.mit.edu	37	12	344336	344336	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:344336G>A	uc001qic.2	-	6	841	c.751C>T	c.(751-753)Cga>Tga	p.R251*	SLC6A13_uc009zdj.2_Nonsense_Mutation_p.R251*|SLC6A13_uc010sdl.2_Nonsense_Mutation_p.R159*|SLC6A13_uc010sdm.1_Nonsense_Mutation_p.R132*	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	251					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GTCACCCCTCGAATTAACAGG	0.537000														26			25		0	0	0.003330	0	0
KYNU	8942	broad.mit.edu	37	2	143643031	143643031	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:143643031A>C	uc010fnm.3	+	2	311	c.95A>C	c.(94-96)cAc>cCc	p.H32P	KYNU_uc002tvk.3_Missense_Mutation_p.H32P|KYNU_uc002tvl.3_Missense_Mutation_p.H32P	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	32					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GTGGCTCTCCACCTAGATGAG	0.498000														37			12		0	0	0.000978	0	0
POLQ	10721	broad.mit.edu	37	3	121207238	121207238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:121207238G>A	uc003eee.4	-	15	4669	c.4540C>T	c.(4540-4542)Cct>Tct	p.P1514S	POLQ_uc003eed.3_Missense_Mutation_p.P686S	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1514					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ACTTCTGAAGGAAGGGGTTCT	0.323000								DNA polymerases (catalytic subunits)						47			21		0	0	0.008871	0	0
FCGR1C	100132417	broad.mit.edu	37	1	149376714	149376715	+	RNA	DNP	CC	TT	TT			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:149376714_149376715CC>TT	uc010pbh.2	+	4		c.653_654CC>TT								Homo sapiens Fc fragment of IgG, high affinity Ic, receptor (CD64), pseudogene (FCGR1C), non-coding RNA.																		CTGTGACATCCCCACTCCTGGG	0.505000														32			22		0	0	0.004672	0	0
L1TD1	54596	broad.mit.edu	37	1	62675897	62675897	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:62675897G>A	uc021ooc.1	+	4	1886	c.1451G>A	c.(1450-1452)gGa>gAa	p.G484E	L1TD1_uc001dae.4_Missense_Mutation_p.G484E	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	484	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						GAAGAAGAAGGAAAGAGCTCT	0.413000														22			14		0	0	0.001855	0	0
ME3	10873	broad.mit.edu	37	11	86158220	86158220	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:86158220C>T	uc001pbz.3	-	10	1521	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	ME3_uc001pca.3_Missense_Mutation_p.E423K|ME3_uc009yvk.3_Missense_Mutation_p.E423K	NM_001014811	NP_001155058	Q16798	MAON_HUMAN	Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	423					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	AGAATCTGCTCCGTGAAGGCT	0.577000														52			20		0	0	0.001523	0	0
FBN3	84467	broad.mit.edu	37	19	8191396	8191396	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:8191396G>A	uc002mjf.3	-	18	2527	c.2510C>T	c.(2509-2511)aCc>aTc	p.T837I		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	837	TB 4.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGCCCCGAGGGTGGCGCAGCA	0.662000														17			8		0	0	0.004482	0	0
TLE4	7091	broad.mit.edu	37	9	82267687	82267687	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:82267687C>T	uc004ald.3	+	6	1398	c.549C>T	c.(547-549)caC>caT	p.H183H	TLE4_uc004alc.3_Silent_p.H190H|TLE4_uc010mpr.3_Silent_p.H69H|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Silent_p.H158H|TLE4_uc010mps.3_Silent_p.H183H|TLE4_uc004alf.3_Silent_p.H129H	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGAAGAAGCACCATGACAATG	0.498000														74			12		0	0	0.001855	0	0
PKD2L1	9033	broad.mit.edu	37	10	102057345	102057345	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr10:102057345C>T	uc001kqx.1	-	4	1133	c.750G>A	c.(748-750)caG>caA	p.Q250Q	PKD2L1_uc009xwm.1_Silent_p.Q203Q	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	250					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCAACTCATCCTGCGAGTGGT	0.562000														11			5		0	0	0.000602	0	0
ASTN2	23245	broad.mit.edu	37	9	119202937	119202937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:119202937C>T	uc004bjt.2	-	20	3681	c.3580G>A	c.(3580-3582)Gaa>Aaa	p.E1194K	ASTN2_uc022bml.1_Missense_Mutation_p.E890K|ASTN2_uc022bmm.1_Missense_Mutation_p.E894K|ASTN2_uc004bjp.2_Missense_Mutation_p.E346K|ASTN2_uc011lxr.2_Missense_Mutation_p.E297K|ASTN2_uc011lxs.2_Missense_Mutation_p.E297K|ASTN2_uc011lxt.2_Missense_Mutation_p.E297K|ASTN2_uc004bjq.2_Missense_Mutation_p.E297K	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	1245						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCAAACTTTTCATAGTGAGAG	0.512000														56			9		0	0	0.006214	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140223241	140223241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:140223241G>A	uc003lhs.2	+	0	2335	c.2335G>A	c.(2335-2337)Gat>Aat	p.D779N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.D779N	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	820					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCCTCCTGATCTGGGATC	0.493000														39			14		0	0	0.001855	0	0
PABPC1P2	728773	broad.mit.edu	37	2	147346002	147346002	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:147346002G>A	uc002twf.4	+	0	1378	c.462G>A	c.(460-462)agG>agA	p.R154R						Homo sapiens poly(A) binding protein, cytoplasmic 1 pseudogene 2 (PABPC1P2), non-coding RNA.																		GCAGCAAAAGGTTTGGCTTTG	0.403000														22			7		0	0	0.003080	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971116	21971116	+	Missense_Mutation	SNP	G	A	A	rs11552823		TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:21971116G>A	uc003zpk.3	-	1	548	c.242C>T	c.(241-243)cCc>cTc	p.P81L	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Missense_Mutation_p.P81L|CDKN2A_uc003zpl.3_Silent_p.T95T	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	81			P -> L (in some patients with melanoma; impairs the function; dbSNP:rs11552823).|P -> T (in CMM2; loss of CDK4 binding).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P81L(16)|p.P81H(4)|p.R80Q(2)|p.E61_L94del(2)|p.P81_A85del(2)|p.R80fs*34(2)|p.R80?(2)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.R80fs*66(1)|p.P81S(1)|p.A76fs*64(1)|p.P81fs*38(1)|p.A68fs*3(1)|p.R80L(1)|p.P81T(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTCGTGCACGGGTCGGGTGAG	0.741000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				79			48		0	0	0.003610	0	0
ABCA13	154664	broad.mit.edu	37	7	48237956	48237956	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:48237956C>T	uc003toq.2	+	3	311	c.287_splice	c.e3+1	p.R96_splice	ABCA13_uc003top.2_Splice_Site_p.R96_splice|ABCA13_uc010kyr.2_Splice_Site	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	96					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCATCATTTTCGGTAAGAGAA	0.403000														26			4		0	0	0.000248	0	0
ATM	472	broad.mit.edu	37	11	108205756	108205756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:108205756C>T	uc001pkb.1	+	54	8456	c.8071C>T	c.(8071-8073)Cgc>Tgc	p.R2691C	ATM_uc009yxr.1_Missense_Mutation_p.R2691C|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Missense_Mutation_p.R1343C	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2691					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|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 N-terminus binding|protein complex binding|protein dimerization activity			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)		AGCAGAATTTCGCTTAGCAGG	0.393000			"""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)				35			10		0	0	0.000978	0	0
ACPP	55	broad.mit.edu	37	3	132071612	132071612	+	Missense_Mutation	SNP	G	A	A	rs140885758		TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:132071612G>A	uc010htp.2	+	8	1003	c.913G>A	c.(913-915)Gga>Aga	p.G305R	ACPP_uc003eon.3_Missense_Mutation_p.G272R|ACPP_uc003eop.4_Missense_Mutation_p.G305R	NM_001099	NP_001090	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA.	305						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TGTTTACAACGGACTCCTTCC	0.433000														59			4		0	0	0.000602	0	0
DHX8	1659	broad.mit.edu	37	17	41599484	41599484	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:41599484C>T	uc002idu.1	+	21	3405	c.3333C>T	c.(3331-3333)ttC>ttT	p.F1111F	DHX8_uc010wig.2_Silent_p.F1111F	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	1111						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding	p.F1111L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GCAGTGGGTTCTTCCGTAATG	0.517000														54			27		0	0	0.004656	0	0
GNA14	9630	broad.mit.edu	37	9	80049349	80049349	+	Silent	SNP	T	C	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:80049349T>C	uc004aku.3	-	2	922	c.399A>G	c.(397-399)caA>caG	p.Q133Q		NM_004297	NP_004288	O95837	GNA14_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 14 (GNA14), mRNA.	133					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q133K(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TGCCTGGATCTTGCCAGAGCT	0.572000											OREG0019263	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			13		0	0	0.001855	0	0
CSMD2	114784	broad.mit.edu	37	1	34166119	34166119	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:34166119G>A	uc001bxm.1	-	22	3908	c.3731C>T	c.(3730-3732)tCc>tTc	p.S1244F	CSMD2_uc001bxn.1_Missense_Mutation_p.S1204F|CSMD2_uc001bxo.1_Missense_Mutation_p.S117F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1204	Sushi 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGACTTACTGGAAAAGTGCAG	0.438000														37			11		0	0	0.008291	0	0
ZNF71	58491	broad.mit.edu	37	19	57133780	57133780	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:57133780C>T	uc002qnm.4	+	2	1363	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	ZNF71_uc021vcg.1_Silent_p.I375I	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	375						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ACCAGCGCATCCACACCGGCG	0.627000														33			5		0	0	0.000602	0	0
GFI1	2672	broad.mit.edu	37	1	92946641	92946641	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:92946641C>T	uc001dou.4	-	3	467	c.303G>A	c.(301-303)tcG>tcA	p.S101S	GFI1_uc001dov.4_Silent_p.S101S|GFI1_uc001dow.4_Silent_p.S101S	NM_001127215	NP_005254	Q99684	GFI1_HUMAN	Homo sapiens growth factor independent 1 transcription repressor (GFI1), transcript variant 2, mRNA.	101					negative regulation of NF-kappaB transcription factor activity|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		TTGACTTCTCCGAGGCTGTGG	0.682000														12			7		0	0	0.004482	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270155	1270155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr16:1270155G>A	uc002cks.3	+	34	6471	c.6223G>A	c.(6223-6225)Gga>Aga	p.G2075R	CACNA1H_uc002ckt.3_Missense_Mutation_p.G2069R|CACNA1H_uc002cku.3_Missense_Mutation_p.G770R|CACNA1H_uc010brj.3_Missense_Mutation_p.G786R|CACNA1H_uc002ckv.3_Missense_Mutation_p.G764R	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2075					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCATACCTTCGGACAGCGCTG	0.721000														8			11		0	0	0.008291	0	0
KRT37	8688	broad.mit.edu	37	17	39577720	39577720	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:39577720C>T	uc002hwp.1	-	5	1187	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	380	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TCTGCCGCTCCAGGTCGGCCC	0.602000														36			15		0	0	0.003163	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895885	24895885	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr13:24895885C>T	uc001upj.3	+	3	1042	c.981C>T	c.(979-981)ttC>ttT	p.F327F	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	327	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		TCACAGGGTTCCTTCTGTTCA	0.483000														67			32		0	0	0.006999	0	0
SPPL2A	84888	broad.mit.edu	37	15	51040396	51040396	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:51040396G>A	uc001zyv.3	-	3	544	c.364C>T	c.(364-366)Cct>Tct	p.P122S		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA.	122	PA.					integral to membrane	aspartic-type endopeptidase activity	p.P122A(3)		endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CCTGAGGGAGGAAACTAAAAA	0.249000														8			3		0	0	0.004672	0	0
DOCK2	1794	broad.mit.edu	37	5	169141086	169141086	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:169141086C>T	uc003maf.3	+	17	1794	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Nonsense_Mutation_p.R64*|DOCK2_uc010jjl.1_Nonsense_Mutation_p.R90*	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	572	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding	p.R572Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTTCTTATCGACACCATGT	0.572000														50			15		0	0	0.007413	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44798934	44798934	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:44798934C>A	uc003tlr.3	+	6	991	c.868C>A	c.(868-870)Cag>Aag	p.Q290K	ZMIZ2_uc003tlq.3_Missense_Mutation_p.Q258K|ZMIZ2_uc003tls.3_Missense_Mutation_p.Q290K|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	290	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.Q290H(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CAGCACCGCCCAGTTTGCGCC	0.642000														153			6		0.00198382	0.00570579	0.001984	1	0
TFDP1	7027	broad.mit.edu	37	13	114287486	114287486	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr13:114287486C>T	uc001vtw.3	+	5	572	c.360C>T	c.(358-360)tcC>tcT	p.S120S	TFDP1_uc010tkd.2_Silent_p.S25S|TFDP1_uc010tke.2_Silent_p.S25S|TFDP1_uc001vty.4_Silent_p.S120S|TFDP1_uc010agx.3_Silent_p.S120S	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	Homo sapiens transcription factor Dp-1 (TFDP1), transcript variant 1, mRNA.	120					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GGCATTTCTCCATGAAGGTCT	0.522000										TSP Lung(29;0.18)				21			12		0	0	0.001368	0	0
SPATA6L	55064	broad.mit.edu	37	9	4625355	4625355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:4625355C>T	uc011llz.2	-	4	713	c.467G>A	c.(466-468)gGa>gAa	p.G156E	SPATA6L_uc003zik.3_Non-coding_Transcript|SPATA6L_uc003zil.3_Non-coding_Transcript|SPATA6L_uc011lly.2_Missense_Mutation_p.G91E	NM_001039395	NP_001034484	B4DIY4	B4DIY4_HUMAN	Homo sapiens chromosome 9 open reading frame 68 (C9orf68), mRNA.	156																	AGGCTTGCTTCCTCCAGAGAT	0.448000														22			20		0	0	0.001523	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182605	140182605	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:140182605C>T	uc003lhf.2	+	0	1823	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.S608L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	621	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTTTCGTATGAGCTG	0.677000														53			15		0	0	0.003163	0	0
HOXB3	3213	broad.mit.edu	37	17	46627847	46627847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:46627847C>T	uc002inn.3	-	1	1545	c.1145G>A	c.(1144-1146)gGg>gAg	p.G382E	HOXB3_uc010wlm.2_Missense_Mutation_p.G309E|HOXB3_uc010dbf.3_Missense_Mutation_p.G382E|HOXB3_uc010dbg.3_Missense_Mutation_p.G382E|HOXB3_uc002ino.3_Missense_Mutation_p.G382E|HOXB3_uc010wlk.2_Missense_Mutation_p.G250E|HOXB3_uc010wll.2_Missense_Mutation_p.G309E	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	382					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S381S(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GTCCAGGTTCCCGGAAGGGTG	0.697000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			41		0	0	0.002222	0	0
DSCAM	1826	broad.mit.edu	37	21	41496239	41496239	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr21:41496239C>T	uc002yyq.1	-	19	4031	c.3579G>A	c.(3577-3579)gcG>gcA	p.A1193A	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1193	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTTCACACCCGCGGGAGGAC	0.597000														31			18		0	0	0.007413	0	0
ZNF460	10794	broad.mit.edu	37	19	57803142	57803142	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:57803142C>T	uc002qog.2	+	2	1555	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	ZNF460_uc010ygv.1_Silent_p.F370F	NM_006635	NP_006626	Q14592	ZN460_HUMAN	Homo sapiens zinc finger protein 460 (ZNF460), mRNA.	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCGACACTTCAACATCCACA	0.478000														40			18		0	0	0.007413	0	0
LOC646214	646214	broad.mit.edu	37	15	21937983	21937983	+	RNA	SNP	C	T	T	rs141885846	by1000genomes	TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:21937983C>T	uc010tzj.1	-	0		c.2757G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TATGCCTGGGCTTTTTCTCCT	0.448000														448			38		0	0	0.003214	0	0
SMARCA4	6597	broad.mit.edu	37	19	11152082	11152082	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:11152082C>T	uc010dxp.3	+	30	4630	c.4270C>T	c.(4270-4272)Ccg>Tcg	p.P1424S	SMARCA4_uc010dxo.3_Missense_Mutation_p.P1456S|SMARCA4_uc002mqf.4_Missense_Mutation_p.P1424S|SMARCA4_uc010dxq.3_Missense_Mutation_p.P1391S|SMARCA4_uc010dxr.3_Missense_Mutation_p.P1391S|SMARCA4_uc002mqj.4_Missense_Mutation_p.P1394S|SMARCA4_uc010dxs.3_Missense_Mutation_p.P1394S|SMARCA4_uc002mqh.4_Missense_Mutation_p.P514S	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1424					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.P1424L(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCCTCCACCCCGACCACCAG	0.652000			"""F, N, Mis"""		NSCLC									23			7		0	0	0.003080	0	0
OR2A12	346525	broad.mit.edu	37	7	143792812	143792812	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:143792812C>T	uc011kty.2	+	0	612	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F204Y(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GTTCTGCGTTCATCTTAGTGG	0.527000														184			44		0	0	0.003610	0	0
NOX5	79400	broad.mit.edu	37	15	69347777	69347777	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:69347777G>A	uc002ars.2	+	14	2144	c.2103G>A	c.(2101-2103)gaG>gaA	p.E701E	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.E655E|NOX5_uc002arp.2_Silent_p.E683E|NOX5_uc010bid.2_Silent_p.E666E|NOX5_uc010bie.2_Silent_p.E501E|NOX5_uc002arr.2_Silent_p.E673E|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	701					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CCAACAAGGAGAAGAAAGACT	0.582000														60			13		0	0	0.003163	0	0
ITGB4	3691	broad.mit.edu	37	17	73752699	73752699	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:73752699G>A	uc002jpg.3	+	36	5084	c.4897_splice	c.e36+1	p.G1633_splice	ITGB4_uc002jph.3_Splice_Site_p.G1563_splice|ITGB4_uc002jpi.4_Splice_Site_p.G1563_splice|ITGB4_uc002jpj.3_Splice_Site_p.G1616_splice	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1633					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCCTGCCAGGTGAGTTGCCT	0.662000														39			28		0	0	0.005443	0	0
LRRC6	23639	broad.mit.edu	37	8	133623588	133623588	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:133623588G>A	uc003ytk.3	-	8	1070	c.996C>T	c.(994-996)atC>atT	p.I332I	LRRC6_uc022bbp.1_Silent_p.I332I|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	332	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CATCAACATCGATTAAAGAGG	0.299000														47			16		0	0	0.007413	0	0
SAMD9	54809	broad.mit.edu	37	7	92733979	92733979	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:92733979C>A	uc003umf.3	-	2	1702	c.1432G>T	c.(1432-1434)Gag>Tag	p.E478*	SAMD9_uc003umg.3_Nonsense_Mutation_p.E478*|SAMD9_uc022ahg.1_Nonsense_Mutation_p.E478*	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	478						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GAAATCGTCTCATTTGGTGTG	0.393000														86			5		0.00116845	0.00336852	0.001168	1	0
PCDH15	65217	broad.mit.edu	37	10	55721651	55721651	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr10:55721651C>T	uc010qhy.1	-	23	3279	c.2884_splice	c.e23-1	p.G962_splice	PCDH15_uc010qhq.2_Splice_Site_p.G962_splice|PCDH15_uc010qhr.2_Splice_Site_p.G957_splice|PCDH15_uc021pqv.1_Splice_Site_p.G957_splice|PCDH15_uc021pqw.1_Splice_Site_p.G969_splice|PCDH15_uc010qht.2_Splice_Site_p.G964_splice|PCDH15_uc021pqx.1_Splice_Site_p.G957_splice|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Splice_Site_p.G957_splice|PCDH15_uc021pqz.1_Splice_Site_p.G935_splice|PCDH15_uc010qhv.1_Splice_Site_p.G957_splice|PCDH15_uc010qhw.1_Splice_Site_p.G920_splice|PCDH15_uc010qhx.1_Splice_Site_p.G886_splice|PCDH15_uc010qhz.1_Splice_Site_p.G957_splice|PCDH15_uc010qia.1_Splice_Site_p.G935_splice|PCDH15_uc001jju.1_Splice_Site_p.G957_splice|PCDH15_uc010qib.1_Splice_Site_p.G935_splice	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	957	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCAGGTAATCCCtaaaataa	0.308000										HNSCC(58;0.16)				19			17		0	0	0.004990	0	0
DOCK6	57572	broad.mit.edu	37	19	11326522	11326522	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:11326522G>A	uc002mqs.4	-	30	4017	c.3976C>T	c.(3976-3978)Ctg>Ttg	p.L1326L	DOCK6_uc010xlq.2_Silent_p.L665L	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	1326					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ATGGTACCCAGAATGGCTTCC	0.542000														61			31		0	0	0.002096	0	0
GRID1	2894	broad.mit.edu	37	10	88123843	88123843	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr10:88123843G>A	uc001kdl.1	-	1	191	c.90C>T	c.(88-90)ttC>ttT	p.F30F	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	30						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CGTTCTCCTCGAAGATGGCAC	0.597000										Multiple Myeloma(13;0.14)				25			13		0	0	0.002450	0	0
KCNF1	3754	broad.mit.edu	37	2	11053719	11053719	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:11053719C>T	uc002rax.3	+	0	1657	c.1167C>T	c.(1165-1167)atC>atT	p.I389I		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	389						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A388T(1)		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)		ACGCGGCCATCAGCTTCTTGT	0.602000														34			14		0	0	0.002450	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190437	209190438	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:209190437_209190438CC>TT	uc002vcz.3	+	19	3060_3061	c.2902_2903CC>TT	c.(2902-2904)cct>TTt	p.P968F	PIKFYVE_uc010fun.1_Missense_Mutation_p.P649F|PIKFYVE_uc002vcy.1_Missense_Mutation_p.P912F	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	968					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGCGGGTCTCCCTTGTGCTTTC	0.505000														51			28		0	0	0.004672	0	0
FAM120C	54954	broad.mit.edu	37	X	54185883	54185883	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:54185883G>A	uc004dsz.4	-	1	949	c.866C>T	c.(865-867)aCc>aTc	p.T289I	FAM120C_uc011moh.2_Missense_Mutation_p.T289I	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	289										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GAACTGGTTGGTAGTGAGGTT	0.483000														28			16		0	0	0.004990	0	0
CHD9	80205	broad.mit.edu	37	16	53272403	53272403	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr16:53272403C>T	uc002ehb.3	+	10	2946	c.2782C>T	c.(2782-2784)Cgt>Tgt	p.R928C	CHD9_uc002egy.3_Missense_Mutation_p.R928C|CHD9_uc002ehc.3_Missense_Mutation_p.R928C|CHD9_uc002ehf.3_Missense_Mutation_p.R42C|CHD9_uc002ehg.2_Missense_Mutation_p.R42C|CHD9_uc002ehd.2_Missense_Mutation_p.R454C|CHD9_uc002ehe.1_Missense_Mutation_p.R42C	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	928	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.R928H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAGAGAATTTCGTACGTGGAC	0.403000														51			63		0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113318268	113318268	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:113318268C>T	uc003ynu.3	-	50	8198	c.8039G>A	c.(8038-8040)tGg>tAg	p.W2680*	CSMD3_uc003yns.3_Nonsense_Mutation_p.W1882*|CSMD3_uc003ynt.3_Nonsense_Mutation_p.W2640*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.W2576*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2680	Sushi 15.					integral to membrane|plasma membrane		p.W2680C(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGATTGCTCCATGTTCCATC	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				61			27		0	0	0.008361	0	0
ZNF160	90338	broad.mit.edu	37	19	53571746	53571746	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:53571746G>A	uc010eqk.3	-	6	2457	c.2041C>T	c.(2041-2043)Caa>Taa	p.Q681*	ZNF160_uc002qaq.4_Nonsense_Mutation_p.Q681*|ZNF160_uc002qar.4_Nonsense_Mutation_p.Q681*	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	681					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTGCCACATTGATTACATTTG	0.433000														75			25		0	0	0.003330	0	0
UNC13C	440279	broad.mit.edu	37	15	54625970	54625970	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:54625970C>T	uc021smr.1	+	13	4494	c.4494C>T	c.(4492-4494)aaC>aaT	p.N1498N	UNC13C_uc021sms.1_Silent_p.N1500N|UNC13C_uc002acl.3_Silent_p.N330N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1500					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.R1498K(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACCAGGAAAACTTTCCTGCAA	0.338000														17			4		0	0	0.000248	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999128	46999128	+	Missense_Mutation	SNP	G	A	A	rs149580948		TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr10:46999128G>A	uc001jec.3	+	2	383	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	GPRIN2_uc021ppt.1_Missense_Mutation_p.R83Q	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	83								p.R83P(2)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CCCAAGGCGCGACCCAGTGCT	0.697000														35			6		0	0	0.001984	0	0
SLC1A2	6506	broad.mit.edu	37	11	35336577	35336577	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:35336577T>G	uc001mwd.3	-	2	895	c.303A>C	c.(301-303)ttA>ttC	p.L101F	SLC1A2_uc021qfx.1_Missense_Mutation_p.L92F|SLC1A2_uc001mwe.3_Missense_Mutation_p.L92F|SLC1A2_uc010rev.1_Missense_Mutation_p.L101F	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	101					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	TACCTGTGATTAAGCTGGAGA	0.438000														66			27		0	0	0.007291	0	0
KIF2B	84643	broad.mit.edu	37	17	51900899	51900899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:51900899G>A	uc002iua.2	+	0	661	c.505G>A	c.(505-507)Gag>Aag	p.E169K	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	169					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCTGCAGCAGGAGATCCGAGC	0.547000														61			35		0	0	0.006230	0	0
PHTF1	10745	broad.mit.edu	37	1	114253057	114253057	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:114253057T>C	uc009wgp.1	-	9	1540	c.1088A>G	c.(1087-1089)aAc>aGc	p.N363S	PHTF1_uc001edn.3_Missense_Mutation_p.N363S|PHTF1_uc001edm.2_Missense_Mutation_p.N120S|PHTF1_uc001edo.1_Missense_Mutation_p.N120S	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	Homo sapiens putative homeodomain transcription factor 1 (PHTF1), mRNA.	363						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.N363K(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTGACATGTTGAGGCTTCG	0.453000														46			13		0	0	0.001855	0	0
PPFIA4	8497	broad.mit.edu	37	1	203024621	203024621	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:203024621A>G	uc009xaj.3	+	20	2266	c.2266A>G	c.(2266-2268)Acc>Gcc	p.T756A	PPFIA4_uc010pqf.2_Missense_Mutation_p.T338A|PPFIA4_uc001gyz.3_Missense_Mutation_p.T125A|PPFIA4_uc001gza.3_Missense_Mutation_p.T125A|PPFIA4_uc001gzb.1_5'Flank			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	125					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GACGCGTGTAACCAGTGGCAG	0.617000														31			33		0	0	0.002445	0	0
LILRB4	11006	broad.mit.edu	37	19	55175661	55175661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:55175661C>T	uc002qgp.3	+	3	742	c.380C>T	c.(379-381)tCa>tTa	p.S127L	LILRB4_uc002qgq.3_Missense_Mutation_p.S127L|LILRB4_uc010ers.1_Missense_Mutation_p.S40L|LILRB4_uc010ert.3_Missense_Mutation_p.S168L|LILRB4_uc010eru.3_Missense_Mutation_p.S156L	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	127	Ig-like C2-type 2.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCCACCCTTTCAGCCCTGCCG	0.582000														75			21		0	0	0.001523	0	0
PSG9	5678	broad.mit.edu	37	19	43762387	43762387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:43762387C>T	uc002owd.4	-	4	1309	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	PSG9_uc002owe.4_Missense_Mutation_p.E311K|PSG9_uc010xwm.2_Missense_Mutation_p.E311K|PSG9_uc002owf.4_Missense_Mutation_p.E218K|PSG9_uc002owg.2_Missense_Mutation_p.E311K	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	404	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TTGGAGATTTCCTTGCCAGTG	0.448000														139			60		0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13829655	13829655	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:13829655C>T	uc003jfd.2	-	37	6450	c.6408G>A	c.(6406-6408)acG>acA	p.T2136T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2136	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTTGTAGAGCGTGAAAAACT	0.453000									Kartagener syndrome					48			24		0	0	0.006320	0	0
PCLO	27445	broad.mit.edu	37	7	82579037	82579037	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:82579037G>A	uc003uhx.2	-	5	11156	c.10867C>T	c.(10867-10869)Ctt>Ttt	p.L3623F	PCLO_uc003uhv.2_Missense_Mutation_p.L3623F|PCLO_uc010lec.3_Missense_Mutation_p.L588F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3554					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.V3622V(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGAGTAAAGGACTTTGGGG	0.478000														56			89		0	0	0.003610	0	0
LAMA3	3909	broad.mit.edu	37	18	21427530	21427530	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr18:21427530T>A	uc002kuq.3	+	31	4120	c.4034T>A	c.(4033-4035)tTc>tAc	p.F1345Y	LAMA3_uc002kur.3_Missense_Mutation_p.F1345Y	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1345	Domain III B.|Laminin EGF-like 10.				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	p.S1344S(1)		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)	ACACACTCATTCAGCTTCCAC	0.657000														24			14		0	0	0.002450	0	0
USP48	84196	broad.mit.edu	37	1	22055084	22055084	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:22055084G>A	uc010odq.2	-	10	1664	c.1426C>T	c.(1426-1428)Caa>Taa	p.Q476*	USP48_uc001bfb.3_Nonsense_Mutation_p.Q477*|USP48_uc009vqc.3_Nonsense_Mutation_p.Q477*|USP48_uc001bfc.3_Nonsense_Mutation_p.Q477*|USP48_uc001bfe.1_Nonsense_Mutation_p.Q476*|USP48_uc001bff.3_Nonsense_Mutation_p.Q477*	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	Homo sapiens ubiquitin specific peptidase 48 (USP48), transcript variant 1, mRNA.	477	DUSP 1.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GGTAACCTTTGGTACAGCTCC	0.398000														80			31		0	0	0.005524	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092834	147092834	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:147092834C>T	uc003weu.2	+	9	2148	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	544	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.F544L(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGGGAAGTTTCGCGAATGTCA	0.438000										HNSCC(39;0.1)				115			35		0	0	0.004289	0	0
BRSK2	9024	broad.mit.edu	37	11	1471065	1471065	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:1471065G>A	uc001ltm.3	+	13	1678	c.1425_splice	c.e13+1	p.R475_splice	BRSK2_uc009ycv.1_Splice_Site_p.R451_splice|BRSK2_uc001lth.1_Splice_Site_p.R429_splice|BRSK2_uc001lti.3_Splice_Site_p.R429_splice|BRSK2_uc001ltl.3_Splice_Site_p.R429_splice|BRSK2_uc001ltj.3_Splice_Site_p.R429_splice|BRSK2_uc001ltk.3_Splice_Site|BRSK2_uc001ltn.3_Splice_Site|BRSK2_uc010qwx.2_Splice_Site|BRSK2_uc009ycw.3_5'Flank	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA.	429					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AGCAGCCCCCGGGTGAGTGAC	0.701000														40			11		0	0	0.008291	0	0
ZNF431	170959	broad.mit.edu	37	19	21365782	21365782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:21365782C>T	uc010ecr.2	+	4	826	c.679C>T	c.(679-681)Cat>Tat	p.H227Y	ZNF431_uc002npp.2_Missense_Mutation_p.H226Y|ZNF431_uc010ecq.2_Missense_Mutation_p.H135Y	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN	Homo sapiens zinc finger protein 431 (ZNF431), mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TAAAAGAATTCATATTAGAGA	0.333000														32			7		0	0	0.003080	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43552888	43552888	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:43552888G>A	uc002ija.3	-	3	671	c.501C>T	c.(499-501)ttC>ttT	p.F167F	PLEKHM1_uc010wjm.2_Silent_p.F139F|PLEKHM1_uc002ijb.3_5'UTR|PLEKHM1_uc010wjn.1_Silent_p.F116F|PLEKHM1_uc021tym.1_5'Flank	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	167	RUN.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GGCCCTGCAGGAAGCTAAGGA	0.607000														47			7		0	0	0.001984	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445936	29445936	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr22:29445936C>T	uc003aeg.3	+	7	1767	c.1767C>T	c.(1765-1767)tcC>tcT	p.S589S	ZNRF3_uc021wnq.1_Silent_p.S489S	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	589						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TCCGCAGCTCCCTCAGCAGCG	0.672000														58			27		0	0	0.002096	0	0
QSOX1	5768	broad.mit.edu	37	1	180151450	180151450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:180151450C>T	uc001gnz.3	+	5	823	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S	QSOX1_uc001gny.3_Missense_Mutation_p.P250S|QSOX1_uc001gob.1_Non-coding_Transcript	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	250					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTCCCGAGTCCCCGTGTGAGT	0.597000														103			33		0	0	0.005524	0	0
IFNG	3458	broad.mit.edu	37	12	68551791	68551791	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:68551791G>A	uc001stw.1	-	2	394	c.268C>T	c.(268-270)Caa>Taa	p.Q90*		NM_000619	NP_000610	P01579	IFNG_HUMAN	Homo sapiens interferon, gamma (IFNG), mRNA.	90					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	ACACTCTTTTGGATGCTCTGG	0.363000														60			37		0	0	0.003271	0	0
AKT2	208	broad.mit.edu	37	19	40747872	40747872	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:40747872G>A	uc002onf.3	-	5	845	c.546C>T	c.(544-546)atC>atT	p.I182I	AKT2_uc010egs.3_Silent_p.I182I|AKT2_uc010xvj.2_Silent_p.I120I|AKT2_uc010egt.3_Silent_p.I120I|AKT2_uc010egu.2_Silent_p.I120I|AKT2_uc010xvk.1_Silent_p.I182I|AKT2_uc002one.3_Silent_p.I78I	NM_001626	NP_001229957	P31751	AKT2_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.	182	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CCTTCCGCAGGATCTTCATGG	0.592000			A		"""ovarian, pancreatic """									161			62		0	0	0.003610	0	0
CDH9	1007	broad.mit.edu	37	5	26881619	26881619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:26881619C>T	uc003jgs.1	-	11	2165	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	CDH9_uc011cnv.1_Missense_Mutation_p.E259K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	666					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G665W(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTATCTTCTTCCCCGCCGCCT	0.428000														128			49		0	0	0.003610	0	0
SEC14L3	266629	broad.mit.edu	37	22	30866041	30866041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr22:30866041C>T	uc003ahy.3	-	3	288	c.199G>A	c.(199-201)Gat>Aat	p.D67N	SEC14L3_uc003ahz.3_5'UTR|SEC14L3_uc003aia.3_Missense_Mutation_p.D8N|SEC14L3_uc003aib.3_Missense_Mutation_p.D8N	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	67						integral to membrane|intracellular	lipid binding|transporter activity	p.D67V(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TGGTCAATATCCATGGTCTTC	0.547000														85			35		0	0	0.005524	0	0
OR2V2	285659	broad.mit.edu	37	5	180582804	180582804	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:180582804C>T	uc011dhj.2	+	0	862	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATGCTCAACCCCCTCATTTA	0.602000														29			15		0	0	0.003163	0	0
RIBC1	158787	broad.mit.edu	37	X	53455528	53455528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:53455528G>A	uc004dsk.3	+	4	701	c.497G>A	c.(496-498)aGg>aAg	p.R166K	RIBC1_uc004dsj.1_Missense_Mutation_p.R166K|RIBC1_uc011mog.1_Intron	NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN	Homo sapiens RIB43A domain with coiled-coils 1 (RIBC1), transcript variant 1, mRNA.	166										lung(2)	2						AACTTGGAAAGGCAACAGCAG	0.552000														9			10		0	0	0.006214	0	0
PNMA3	29944	broad.mit.edu	37	X	152225782	152225782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:152225782C>T	uc022cho.1	+	0	370	c.370C>T	c.(370-372)Ctc>Ttc	p.L124F	PNMA3_uc004fhc.2_Missense_Mutation_p.L124F|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	124					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gaaccgagtcctcgggtcgga	0.537000														15			12		0	0	0.001368	0	0
OLFML1	283298	broad.mit.edu	37	11	7530941	7530941	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:7530941G>A	uc001mfi.3	+	2	1238	c.731G>A	c.(730-732)aGg>aAg	p.R244K	OLFML1_uc010raz.2_Missense_Mutation_p.R108K|OLFML1_uc010rba.2_Missense_Mutation_p.R244K	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN	Homo sapiens olfactomedin-like 1 (OLFML1), mRNA.	244	Olfactomedin-like.					extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTGCAGAAGAGGACTGTGGAA	0.463000														33			14		0	0	0.003163	0	0
PSMD4	5710	broad.mit.edu	37	1	151237936	151237936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:151237936C>T	uc001exl.3	+	5	567	c.505C>T	c.(505-507)Cat>Tat	p.H169Y		NM_002810	NP_002801	P55036	PSMD4_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4), mRNA.	169	VWFA.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AACCGGTTCTCATCTGGTGAC	0.522000														69			35		0	0	0.004878	0	0
GALNTL5	168391	broad.mit.edu	37	7	151684324	151684324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:151684324G>A	uc003wkp.3	+	4	886	c.616G>A	c.(616-618)Ggg>Agg	p.G206R	GALNTL5_uc010lqf.3_Missense_Mutation_p.G95R|GALNTL5_uc003wkq.3_Intron|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	206	Catalytic subdomain A.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.G206fs*25(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		AAAGAGAGAGGGGCTGATTCG	0.428000														80			8		0	0	0.004482	0	0
CORO1C	23603	broad.mit.edu	37	12	109052620	109052620	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:109052620T>A	uc009zva.3	-	4	732	c.683A>T	c.(682-684)gAc>gTc	p.D228V	CORO1C_uc001tnj.3_Missense_Mutation_p.D175V|CORO1C_uc010sxf.2_Missense_Mutation_p.D138V	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	Homo sapiens coronin, actin binding protein, 1C (CORO1C), transcript variant 1, mRNA.	175					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GTAAATCATGTCTGAATGCAT	0.433000														53			45		0	0	0.002222	0	0
TLL1	7092	broad.mit.edu	37	4	167020467	167020467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:167020467G>A	uc003irh.2	+	19	3342	c.2695G>A	c.(2695-2697)Gat>Aat	p.D899N	TLL1_uc011cjn.2_Missense_Mutation_p.D922N|TLL1_uc011cjo.2_Missense_Mutation_p.D723N	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	899	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AAAACCAAGAGATCTGTACTC	0.423000														70			23		0	0	0.002780	0	0
SLC9A3	6550	broad.mit.edu	37	5	476469	476469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:476469C>T	uc003jbe.2	-	12	2027	c.1915G>A	c.(1915-1917)Gag>Aag	p.E639K	SLC9A3_uc011clx.1_Missense_Mutation_p.E630K|BC013821_uc011cly.2_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	639	Interaction with PDZD3 (By similarity).					cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGCGTGAGCTCGTGTCGGCTG	0.622000														56			16		0	0	0.006122	0	0
MOSPD3	64598	broad.mit.edu	37	7	100210447	100210448	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:100210447_100210448GG>AA	uc003uvq.3	+	1	235_236	c.33_34GG>AA	c.(31-36)ctggtg>ctAAtg	p.V12M	MOSPD3_uc003uvr.3_Missense_Mutation_p.V12M|MOSPD3_uc003uvs.3_Missense_Mutation_p.V12M|MOSPD3_uc003uvt.3_Missense_Mutation_p.V12M	NM_001040097	NP_076438	O75425	MSPD3_HUMAN	Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 2, mRNA.	12						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCAGGAGCTGGTGGGTccggg	0.728000														21			11		0	0	0.004672	0	0
CD1C	911	broad.mit.edu	37	1	158262023	158262023	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:158262023C>T	uc001fru.3	+	2	770	c.478C>T	c.(478-480)Caa>Taa	p.Q160*	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	160					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AAGTTTGGCCCAAAGTGTCTG	0.458000														208			71		0	0	0.003610	0	0
SNAI2	6591	broad.mit.edu	37	8	49831426	49831426	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:49831426G>A	uc003xqp.3	-	2	922	c.747C>T	c.(745-747)acC>acT	p.T249T		NM_003068	NP_003059	O43623	SNAI2_HUMAN	Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.	249					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TTCTGGAGAAGGTTTTGGAGC	0.448000														105			27		0	0	0.008361	0	0
LRP1B	53353	broad.mit.edu	37	2	141079558	141079558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:141079558C>T	uc002tvj.1	-	81	13586	c.12614G>A	c.(12613-12615)gGc>gAc	p.G4205D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4205					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTGCAGGTGCCATTAATCAA	0.378000										TSP Lung(27;0.18)				78			23		0	0	0.003954	0	0
BIN2	51411	broad.mit.edu	37	12	51696549	51696549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:51696549G>A	uc001ryg.3	-	3	285	c.233C>T	c.(232-234)tCa>tTa	p.S78L	BIN2_uc009zlz.3_Missense_Mutation_p.S78L|BIN2_uc001ryh.3_5'UTR|BIN2_uc010sng.2_Missense_Mutation_p.S52L	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	78	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CACTCTTTTTGAACTTTCATG	0.468000														55			80		0	0	0.003610	0	0
GEM	2669	broad.mit.edu	37	8	95262690	95262690	+	Missense_Mutation	SNP	C	T	T	rs141202489	byFrequency	TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:95262690C>T	uc003ygi.3	-	4	863	c.739G>A	c.(739-741)Gag>Aag	p.E247K	GEM_uc003ygj.3_Missense_Mutation_p.E247K	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	247					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCATTCTTCTCCTTGCTGTCC	0.562000														31			8		0	0	0.006214	0	0
STARD8	9754	broad.mit.edu	37	X	67938118	67938118	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:67938118C>T	uc004dxb.3	+	5	1576	c.1362C>T	c.(1360-1362)gcC>gcT	p.A454A	STARD8_uc004dxa.3_Silent_p.A374A|STARD8_uc004dxc.4_Silent_p.A374A	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	374					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						AGTCCCCAGCCTGGGCCCAGG	0.627000														8			7		0	0	0.003080	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627091	43627091	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:43627091G>A	uc011lrb.2	-	3	1625	c.1596C>T	c.(1594-1596)tcC>tcT	p.S532S		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	532						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						TTTCAGGTAGGGAGAGAGCTT	0.468000														431			168		0	0	0.003610	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr20:29628245G>A	uc010ztl.1	+	2	189	c.157G>A	c.(157-159)Gcc>Acc	p.A53T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A5T					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000														66			4		0	0	0.000602	0	0
ALS2CL	259173	broad.mit.edu	37	3	46723548	46723548	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:46723548C>T	uc003cqa.2	-	10	1339	c.1146G>A	c.(1144-1146)gtG>gtA	p.V382V	ALS2CL_uc003cpz.2_5'Flank|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.V382V	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	382					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGAAATTCCCCACGTGATTCC	0.627000														20			7		0	0	0.001984	0	0
RETNLB	84666	broad.mit.edu	37	3	108475928	108475928	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:108475928G>A	uc003dxh.2	-	0	203	c.105C>T	c.(103-105)atC>atT	p.I35I		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	35					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GAACATCCTTGATCTTCTTAT	0.502000														16			11		0	0	0.000978	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129870331	129870331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:129870331G>A	uc004bqr.1	-	1	1180	c.680C>T	c.(679-681)cCa>cTa	p.P227L	RALGPS1_uc022bno.1_Intron|RALGPS1_uc011mab.2_Intron|RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqo.2_Intron|RALGPS1_uc004bqq.4_Intron|ANGPTL2_uc010mxg.1_Intron	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	Homo sapiens angiopoietin-like 2 (ANGPTL2), mRNA.	227					multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GTAGGTGGGTGGTTGGTAGAC	0.642000														30			21		0	0	0.001882	0	0
BID	637	broad.mit.edu	37	22	18220990	18220990	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr22:18220990C>T	uc002znd.2	-	4	542	c.369G>A	c.(367-369)cgG>cgA	p.R123R	BID_uc002znc.2_Silent_p.R169R|BID_uc021wko.1_Silent_p.R27R|BID_uc002zne.2_Silent_p.R27R|BID_uc021wkp.1_Silent_p.R27R|BID_uc002znf.2_Silent_p.R27R|BID_uc010gra.2_Non-coding_Transcript|BID_uc010grc.1_Silent_p.R27R|BID_uc010grb.1_Silent_p.R123R	NM_001196	NP_001187	P55957	BID_HUMAN	Homo sapiens BH3 interacting domain death agonist (BID), transcript variant 2, mRNA.	123					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding			large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		GGTCCCTGTTCCGGTCCTGCA	0.552000														19			13		0	0	0.001855	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr20:29628243T>C	uc010ztl.1	+	2	187	c.155T>C	c.(154-156)tTg>tCg	p.L52S	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.L4S					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000														67			4		0	0	0.000602	0	0
PATL1	219988	broad.mit.edu	37	11	59410478	59410478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:59410478G>A	uc001noe.4	-	15	2067	c.1924C>T	c.(1924-1926)Ctc>Ttc	p.L642F	PATL1_uc009yms.1_Missense_Mutation_p.L612F	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA.	642	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	RNA binding|protein binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TAGAGAAGGAGAGAGAAGGGA	0.473000														50			28		0	0	0.004656	0	0
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	G	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:61161357T>G	uc021qkf.1	+	3	409	c.137_splice	c.e3-1	p.G46_splice	TMEM216_uc010rlj.2_Splice_Site_p.G46_splice|TMEM216_uc001nrn.2_Splice_Site	NM_001173991	NP_001167462	Q9P0N5	TM216_HUMAN	Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 3, mRNA.	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438000														46			14		0	0	0.004990	0	0
NAV2	89797	broad.mit.edu	37	11	20127234	20127234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:20127234C>T	uc010rdm.2	+	36	7331	c.6970C>T	c.(6970-6972)Cgc>Tgc	p.R2324C	NAV2_uc001mpp.3_Missense_Mutation_p.R2204C|NAV2_uc001mpr.4_Missense_Mutation_p.R2268C|NAV2_uc021qew.1_Missense_Mutation_p.R2271C|NAV2_uc009yhx.3_Missense_Mutation_p.R1332C|NAV2_uc009yhz.3_Missense_Mutation_p.R913C|NAV2_uc001mpu.3_Missense_Mutation_p.R706C|NAV2_uc001mpv.3_Missense_Mutation_p.R30C	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	2327						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCACCTCAACCGCTTCCTGGA	0.597000														43			15		0	0	0.004990	0	0
PCM1	5108	broad.mit.edu	37	8	17863888	17863888	+	Silent	SNP	A	G	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:17863888A>G	uc022asj.1	+	28	5083	c.5061A>G	c.(5059-5061)caA>caG	p.Q1687Q	PCM1_uc003wyi.4_Silent_p.Q1648Q|PCM1_uc011kyh.2_Silent_p.Q1640Q|PCM1_uc003wyj.4_Silent_p.Q1594Q|PCM1_uc011kyi.2_Silent_p.Q447Q|PCM1_uc011kyj.2_Silent_p.Q404Q|PCM1_uc003wyk.4_Silent_p.Q330Q|PCM1_uc011kyk.2_Silent_p.Q264Q	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	1648	Interaction with HAP1.				G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TTCATAAACAACTTGGAAGTA	0.388000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""									45			10		0	0	0.000978	0	0
PRG4	10216	broad.mit.edu	37	1	186276100	186276100	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:186276100A>C	uc001gru.4	+	6	1300	c.1249A>C	c.(1249-1251)Acc>Ccc	p.T417P	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.T376P|PRG4_uc009wyl.3_Missense_Mutation_p.T324P|PRG4_uc009wym.3_Missense_Mutation_p.T283P|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	417	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T417P(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.652000														51			4		0	0	0.000978	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956224	18956224	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:18956224G>A	uc001mpg.3	-	0	326	c.108C>T	c.(106-108)atC>atT	p.I36I		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	36			I -> V (in dbSNP:rs11024885).		acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAAGGGAAACGATGCACGTCA	0.557000														207			35		0	0	0.004878	0	0
SELPLG	6404	broad.mit.edu	37	12	109016855	109016856	+	Missense_Mutation	DNP	AA	GG	GG			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:109016855_109016856AA>GG	uc010sxe.2	-	1	1453_1454	c.1276_1277TT>CC	c.(1276-1278)ttc>CCc	p.F426P	SELPLG_uc001tni.3_Missense_Mutation_p.F410P|SELPLG_uc021rdm.1_Missense_Mutation_p.F400P|SELPLG_uc001tnh.3_Missense_Mutation_p.F400P	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN	Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.	410					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						CTAAGGGAGGAAGCTGTGCAGG	0.653000														13			5		0	0	0.004672	0	0
MYOF	26509	broad.mit.edu	37	10	95070382	95070382	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr10:95070382A>T	uc001kin.3	-	51	6031	c.5908T>A	c.(5908-5910)Ttg>Atg	p.L1970M	MYOF_uc001kio.3_Missense_Mutation_p.L1957M|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1970					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGGATTTCCAATGTCATCTCC	0.498000														50			22		0	0	0.003954	0	0
FOXRED1	55572	broad.mit.edu	37	11	126146989	126146989	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:126146989C>G	uc001qdi.3	+	9	1292	c.1125C>G	c.(1123-1125)aaC>aaG	p.N375K	FOXRED1_uc010sbn.2_Missense_Mutation_p.N205K|FOXRED1_uc010sbq.2_Missense_Mutation_p.N242K|FOXRED1_uc010sbo.2_Non-coding_Transcript|FOXRED1_uc010sbp.2_Missense_Mutation_p.N188K|FOXRED1_uc010sbr.2_Missense_Mutation_p.N361K|FOXRED1_uc001qdk.3_Missense_Mutation_p.N164K	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 1 (FOXRED1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	375						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		ACCCGGCGAACCTGGAAGTGG	0.557000														32			7		0	0	0.003080	0	0
GLIS3	169792	broad.mit.edu	37	9	3937029	3937029	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:3937029G>A	uc003zhx.1	-	5	2585	c.1872_splice	c.e5+1	p.T624_splice	GLIS3_uc010mhf.1_Splice_Site|GLIS3_uc003zhv.1_Splice_Site|GLIS3_uc003zhw.1_Splice_Site_p.T469_splice|GLIS3_uc003zhy.1_Splice_Site_p.T402_splice|GLIS3_uc003zhz.1_Splice_Site_p.T402_splice	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	469					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CATTCTTACGGTGTCCAGATG	0.557000														46			26		0	0	0.007291	0	0
CLPB	81570	broad.mit.edu	37	11	72005078	72005078	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:72005078G>A	uc001osj.3	-	15	1913	c.1863C>T	c.(1861-1863)tcC>tcT	p.S621S	CLPB_uc010rqx.2_Silent_p.S576S|CLPB_uc010rqy.2_Silent_p.S562S|CLPB_uc001osk.3_Silent_p.S591S|CLPB_uc010rqz.2_Silent_p.S420S|CLPB_uc001osi.3_Silent_p.S229S	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	621					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CATGTTTGATGGAGCGGGCGC	0.622000														242			86		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140346714	140346714	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:140346714G>A	uc003lii.3	+	0	968	c.363G>A	c.(361-363)ttG>ttA	p.L121L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.L121L	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	121	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCAGCTTGGAAGTGCTGG	0.627000														33			17		0	0	0.008871	0	0
CCDC9	26093	broad.mit.edu	37	19	47763860	47763860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:47763860C>T	uc010xym.2	+	4	433	c.226C>T	c.(226-228)Cct>Tct	p.P76S		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	Homo sapiens coiled-coil domain containing 9 (CCDC9), mRNA.	76										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GAACCTGGGTCCTTCCCGGAG	0.687000														49			23		0	0	0.003954	0	0
PNKP	11284	broad.mit.edu	37	19	50367223	50367223	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:50367223G>A	uc002pqj.3	-	6	852	c.742C>T	c.(742-744)Cag>Tag	p.Q248*	PNKP_uc002pqg.3_Nonsense_Mutation_p.Q29*|PNKP_uc002pqi.3_Nonsense_Mutation_p.Q209*|PNKP_uc021uxx.1_Nonsense_Mutation_p.Q248*	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA.	248					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		AGCCATACCTGGAAGGGGACC	0.632000								Other BER factors						18			9		0	0	0.008291	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140236221	140236221	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:140236221G>A	uc003lhx.2	+	0	588	c.588G>A	c.(586-588)cgG>cgA	p.R196R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Silent_p.R196R|PCDHAC2_uc011dad.2_Silent_p.R196R	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	212	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTTCTGCGGAAGCTGCTGG	0.398000														61			25		0	0	0.003954	0	0
MAP3K4	4216	broad.mit.edu	37	6	161469968	161469968	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr6:161469968C>T	uc003qtn.3	+	2	806	c.664C>T	c.(664-666)Cgt>Tgt	p.R222C	MAP3K4_uc010kkc.1_Missense_Mutation_p.R222C|MAP3K4_uc003qto.3_Missense_Mutation_p.R222C|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	222					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.R222C(3)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCCAGCAGATCGTTTAAAGTT	0.448000														14			4		0	0	0.000248	0	0
NUP188	23511	broad.mit.edu	37	9	131761556	131761556	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:131761556C>T	uc004bws.1	+	32	3643	c.3621C>T	c.(3619-3621)ttC>ttT	p.F1207F	NUP188_uc004bwu.3_Silent_p.F550F	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	1207					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CCAAGGTGTTCTCAGCATTCA	0.562000											OREG0003925	type=REGULATORY REGION|Gene=AK025292|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		43			18		0	0	0.007413	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870436	51870436	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr20:51870436C>T	uc002xwo.3	+	1	1326	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	TSHZ2_uc021wex.1_Silent_p.L144L	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	147					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGGCTTCAAGCTGTCCAATAG	0.512000														66			26		0	0	0.005443	0	0
SLC17A6	57084	broad.mit.edu	37	11	22360116	22360116	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:22360116A>T	uc001mqk.3	+	0	450	c.37A>T	c.(37-39)Aaa>Taa	p.K13*		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	13					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGCCCCAGGAAAAGAGGGGCT	0.433000														34			9		0	0	0.006214	0	0
CDHR4	389118	broad.mit.edu	37	3	49836714	49836714	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:49836714C>T	uc010hkz.3	-	1	215	c.206G>A	c.(205-207)aGc>aAc	p.S69N	CDHR4_uc003cxp.2_Missense_Mutation_p.S69N|CDHR4_uc011bcw.2_Missense_Mutation_p.S69N	NM_001007540	NP_001007541	A6H8M9	CDHR4_HUMAN	Homo sapiens cadherin-related family member 4 (CDHR4), mRNA.	69					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						CCTGGCCAAGCTGGGTGGGTT	0.567000														18			9		0	0	0.008291	0	0
UBLCP1	134510	broad.mit.edu	37	5	158710336	158710336	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:158710336A>T	uc003lxq.2	+	9	1244	c.918A>T	c.(916-918)aaA>aaT	p.K306N		NM_145049	NP_659486	Q8WVY7	UBCP1_HUMAN	Homo sapiens ubiquitin-like domain containing CTD phosphatase 1 (UBLCP1), mRNA.	306						nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAAATCACAAATATTGGGAAA	0.289000														84			20		0	0	0.002780	0	0
PCDH12	51294	broad.mit.edu	37	5	141335520	141335520	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:141335520C>T	uc003llx.3	-	0	3108	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	633	Cadherin 6.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAGGGGCTCTCCATTTGCC	0.577000														33			14		0	0	0.001855	0	0
AGAP11	119385	broad.mit.edu	37	10	88768401	88768401	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr10:88768401G>A	uc001kee.2	+	11	1596	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	131	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CTCTTAAAGCGAAGTGGGAAA	0.488000														143			70		0	0	0.003610	0	0
VPS13D	55187	broad.mit.edu	37	1	12343341	12343341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:12343341C>T	uc001atv.3	+	20	5323	c.5182C>T	c.(5182-5184)Cac>Tac	p.H1728Y	VPS13D_uc001atw.3_Missense_Mutation_p.H1728Y|VPS13D_uc001atx.3_Missense_Mutation_p.H916Y	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1728					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTCCCTTCCCACATGGAAGA	0.478000														51			18		0	0	0.007413	0	0
ITGB4	3691	broad.mit.edu	37	17	73739891	73739891	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:73739891G>A	uc002jpg.3	+	25	3247	c.3060G>A	c.(3058-3060)ggG>ggA	p.G1020G	ITGB4_uc002jph.3_Silent_p.G1020G|ITGB4_uc002jpi.4_Silent_p.G1020G|ITGB4_uc002jpj.3_Silent_p.G1020G	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1020	Calx-beta.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGACGGCGGGAAGTCCCAGG	0.701000														20			6		0	0	0.001168	0	0
CCDC37	348807	broad.mit.edu	37	3	126142215	126142215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:126142215G>A	uc010hsg.1	+	10	1192	c.1133G>A	c.(1132-1134)gGg>gAg	p.G378E	CCDC37_uc003eiu.1_Missense_Mutation_p.G377E	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	377										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GACAGCGATGGGGAGGTGAAT	0.657000														22			7		0	0	0.006214	0	0
RIN3	79890	broad.mit.edu	37	14	93154411	93154411	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr14:93154411C>T	uc001yap.3	+	9	2924	c.2772C>T	c.(2770-2772)ttC>ttT	p.F924F	RIN3_uc010auk.3_Silent_p.F586F|RIN3_uc001yaq.3_Silent_p.F849F	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	924	Ras-associating.				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)				ACCGGCTGTTCGTGCTGGTGG	0.731000														13			8		0	0	0.006214	0	0
EVC2	132884	broad.mit.edu	37	4	5624385	5624386	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:5624385_5624386CC>TT	uc003gij.3	-	13	2433_2434	c.2379_2380GG>AA	c.(2377-2382)ggggag>ggAAag	p.E794K	EVC2_uc003gik.3_Missense_Mutation_p.E714K|EVC2_uc011bwb.2_Missense_Mutation_p.E234K	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	794						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCCTCTCCTCCCCCTCCAGCT	0.663000														21			10		0	0	0.004672	0	0
RPTN	126638	broad.mit.edu	37	1	152128685	152128685	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:152128685T>C	uc001ezs.1	-	2	955	c.890A>G	c.(889-891)cAg>cGg	p.Q297R		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	297	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCTGTCCGTCTGACCGTAGTG	0.512000														423			113		0	0	0.003610	0	0
RRN3	54700	broad.mit.edu	37	16	15166902	15166902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr16:15166902G>A	uc002dde.3	-	11	1101	c.1033C>T	c.(1033-1035)Cgc>Tgc	p.R345C	PDXDC1_uc002ddc.3_Intron|RRN3_uc010uzp.2_Missense_Mutation_p.R213C|RRN3_uc010uzq.2_Missense_Mutation_p.R315C	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	Homo sapiens RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) (RRN3), mRNA.	345					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						ATCAGGTCGCGATATAGATCC	0.383000														31			32		0	0	0.006230	0	0
TMEM8C	389827	broad.mit.edu	37	9	136389886	136389886	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:136389886C>T	uc011mdk.2	-	0	183	c.81G>A	c.(79-81)aaG>aaA	p.K27K		NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN	Homo sapiens transmembrane protein 8C (TMEM8C), mRNA.	27						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						GGAACCGCCTCTTGGCCGCGA	0.652000														47			15		0	0	0.003163	0	0
GPR152	390212	broad.mit.edu	37	11	67219374	67219374	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:67219374C>T	uc001olm.3	-	0	827	c.822G>A	c.(820-822)tgG>tgA	p.W274*	CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	274						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W274L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCAGGGCCTCCCAGAGCAGGT	0.627000														30			11		0	0	0.000978	0	0
TRIM42	287015	broad.mit.edu	37	3	140407233	140407233	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:140407233G>A	uc003eto.2	+	2	1915	c.1709G>A	c.(1708-1710)gGc>gAc	p.G570D		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	570						intracellular	zinc ion binding	p.D569D(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCCACAGACGGCCTCTACACC	0.572000														56			19		0	0	0.008871	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871350	8871350	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:8871350C>T	uc002qzc.2	-	29	4998	c.4816G>A	c.(4816-4818)Gac>Aac	p.D1606N	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.D1507N|KIDINS220_uc002qzb.2_Missense_Mutation_p.D460N	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1606					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGCTGGGAGTCATCCGCCACT	0.488000														34			9		0	0	0.004482	0	0
RP1	6101	broad.mit.edu	37	8	55533670	55533670	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:55533670C>T	uc003xsd.1	+	1	292	c.144C>T	c.(142-144)ttC>ttT	p.F48F	RP1_uc011ldy.1_Silent_p.F48F	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	48	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.F48F(4)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACCCCCAATTCGGCGGGGTCA	0.552000														35			25		0	0	0.004656	0	0
CD22	933	broad.mit.edu	37	19	35827096	35827096	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:35827096G>A	uc010edt.3	+	3	654	c.570G>A	c.(568-570)tcG>tcA	p.S190S	CD22_uc010edu.3_Silent_p.S190S|CD22_uc010edv.3_Silent_p.S190S|CD22_uc002nzb.4_Silent_p.S190S|CD22_uc010xst.2_Silent_p.S18S|CD22_uc010edx.3_5'Flank	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	190	Ig-like C2-type 1.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CTGTCACCTCGACCTCCTTGA	0.547000														46			24		0	0	0.002299	0	0
HCN3	57657	broad.mit.edu	37	1	155255737	155255737	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:155255737G>A	uc001fjz.1	+	5	1467	c.1459G>A	c.(1459-1461)Gat>Aat	p.D487N	HCN3_uc010pfz.1_Missense_Mutation_p.D182N	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	487						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACGCCTCACCGATGGATCCTA	0.657000														105			68		0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13753555	13753555	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:13753555C>T	uc003jfd.2	-	62	10701	c.10659G>A	c.(10657-10659)cgG>cgA	p.R3553R	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3553					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3553W(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGGAATTTTCCGGGCTTTCA	0.398000									Kartagener syndrome					97			38		0	0	0.006230	0	0
FAM114A1	92689	broad.mit.edu	37	4	38933073	38933073	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:38933073C>T	uc003gtn.3	+	11	1421	c.1162_splice	c.e11-1	p.A388_splice	FAM114A1_uc011byh.2_Splice_Site_p.A181_splice|FAM114A1_uc010ifi.3_Splice_Site_p.A46_splice	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	Homo sapiens family with sequence similarity 114, member A1 (FAM114A1), transcript variant 1, mRNA.	388						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCTCTGCAGGCCATGAAGAGG	0.453000														35			14		0	0	0.003163	0	0
BAZ2B	29994	broad.mit.edu	37	2	160284896	160284896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:160284896C>T	uc002uao.3	-	11	2695	c.2290G>A	c.(2290-2292)Ggg>Agg	p.G764R	BAZ2B_uc002uap.3_Missense_Mutation_p.G762R|BAZ2B_uc002uaq.1_Missense_Mutation_p.G594R|BAZ2B_uc002uar.1_Missense_Mutation_p.G337R	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	764	MBD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGAAGGCGCCCTCCAAAGTTT	0.343000														111			19		0	0	0.001882	0	0
DENND3	22898	broad.mit.edu	37	8	142188277	142188277	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:142188277G>A	uc003yvy.3	+	15	2856	c.2578G>A	c.(2578-2580)Gat>Aat	p.D860N	DENND3_uc010mep.3_Missense_Mutation_p.D821N	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	860										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ATCCTACTTTGATAAGATGAG	0.493000														41			11		0	0	0.000978	0	0
MTMR10	54893	broad.mit.edu	37	15	31239448	31239448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:31239448G>A	uc001zfh.1	-	13	1531	c.1433C>T	c.(1432-1434)cCt>cTt	p.P478L	MTMR10_uc010ubk.1_5'UTR|MTMR10_uc001zfg.1_Missense_Mutation_p.P59L|MTMR10_uc010azx.1_Missense_Mutation_p.P230L|MTMR10_uc001zfi.1_Missense_Mutation_p.P230L|MTMR10_uc001zfj.3_Missense_Mutation_p.P396L	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	Homo sapiens myotubularin related protein 10 (MTMR10), mRNA.	478	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		AAAAGCTGCAGGATATTGTTC	0.458000														41			15		0	0	0.002450	0	0
SLC27A2	11001	broad.mit.edu	37	15	50474656	50474656	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:50474656G>A	uc001zxw.3	+	0	264	c.32G>A	c.(31-33)gGa>gAa	p.G11E	SLC27A2_uc010bes.3_Missense_Mutation_p.G11E	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	11					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GTCCTGGCGGGACTGCTGTTC	0.667000														16			5		0	0	0.000602	0	0
SPINK5	11005	broad.mit.edu	37	5	147495967	147495967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:147495967G>A	uc003lox.2	+	21	2123	c.2050G>A	c.(2050-2052)Gag>Aag	p.E684K	SPINK5_uc010jgs.1_Missense_Mutation_p.E656K|SPINK5_uc010jgr.2_Missense_Mutation_p.E665K|SPINK5_uc003low.2_Missense_Mutation_p.E684K|SPINK5_uc003loy.2_Missense_Mutation_p.E684K	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	684	Kazal-like 10.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGAAAGAAGAGGAAGATCA	0.458000														67			15		0	0	0.003163	0	0
CLCN2	1181	broad.mit.edu	37	3	184075585	184075585	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:184075585G>A	uc003foi.3	-	5	799	c.675C>T	c.(673-675)ctC>ctT	p.L225L	CLCN2_uc003foh.3_5'Flank|CLCN2_uc010hya.2_Silent_p.L225L|CLCN2_uc011brl.2_Silent_p.L225L|CLCN2_uc011brm.2_Silent_p.L181L|CLCN2_uc011brn.1_Silent_p.L225L	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	225						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TACCCCCAAAGAGGGAGAGGA	0.637000														30			12		0	0	0.002450	0	0
TTLL13	440307	broad.mit.edu	37	15	90794035	90794035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:90794035C>T	uc002bpd.1	+	1	461	c.173C>T	c.(172-174)gCc>gTc	p.A58V	TTLL13_uc002bpe.1_Non-coding_Transcript	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA.	58					protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			CCCATTATGGCCACAAAAATT	0.468000														105			25		0	0	0.005443	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43636489	43636489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:43636489G>A	uc010ojx.2	-	4	699	c.550C>T	c.(550-552)Cct>Tct	p.P184S	EBNA1BP2_uc001cio.3_Missense_Mutation_p.P184S|WDR65_uc010ojz.2_5'Flank|WDR65_uc001ciq.2_5'Flank|WDR65_uc001cip.2_5'Flank|WDR65_uc021omk.1_5'Flank|EBNA1BP2_uc001cin.3_Missense_Mutation_p.P129S	NM_001159936	NP_006815	Q99848	EBP2_HUMAN	Homo sapiens EBNA1 binding protein 2 (EBNA1BP2), transcript variant 1, mRNA.	129					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGCTTCGTAGGGACTTTGAGC	0.473000														98			41		0	0	0.002222	0	0
DOCK3	1795	broad.mit.edu	37	3	51274943	51274943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:51274943G>A	uc011bds.2	+	20	2047	c.2024G>A	c.(2023-2025)cGa>cAa	p.R675Q		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	675						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AACCTGCTCCGAGACATCAAG	0.473000														15			9		0	0	0.006214	0	0
GPC4	2239	broad.mit.edu	37	X	132458250	132458250	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:132458250T>A	uc004exc.1	-	2	846	c.634A>T	c.(634-636)Act>Tct	p.T212S	GPC4_uc011mvg.1_Missense_Mutation_p.T142S	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	212					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					AAAGCACGAGTAACCTGGAGC	0.512000														15			31		0	0	0.007291	0	0
RYR2	6262	broad.mit.edu	37	1	237433839	237433839	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:237433839G>A	uc001hyl.1	+	1	211	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	31					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATCCACAAAGAACAACAGAA	0.473000														6			10		0	0	0.008291	0	0
F2	2147	broad.mit.edu	37	11	46750981	46750981	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:46750981G>A	uc001ndf.4	+	11	1567	c.1524G>A	c.(1522-1524)aaG>aaA	p.K508K		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	508	Peptidase S1.				STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GCAACCTGAAGGAGACGTGGA	0.632000														60			27		0	0	0.002096	0	0
MBD5	55777	broad.mit.edu	37	2	149240855	149240855	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:149240855C>T	uc002twm.4	+	9	3692	c.2695C>T	c.(2695-2697)Cat>Tat	p.H899Y	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_5'Flank|MBD5_uc002twp.3_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	899						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCACGCACTTCATTTTCCATC	0.498000														159			44		0	0	0.002222	0	0
PLCH1	23007	broad.mit.edu	37	3	155203145	155203145	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:155203145C>T	uc021xge.1	-	22	3275	c.2998_splice	c.e22+1	p.A1000_splice	PLCH1_uc021xgd.1_Splice_Site_p.V1000_splice|PLCH1_uc021xgf.1_Splice_Site_p.A962_splice	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1000					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCATCTTACCTAGAGAGTTT	0.423000														30			7		0	0	0.001984	0	0
VAV1	7409	broad.mit.edu	37	19	6833630	6833630	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:6833630G>A	uc002mfu.1	+	16	1799	c.1702G>A	c.(1702-1704)Ggg>Agg	p.G568R	VAV1_uc010xjh.1_Missense_Mutation_p.G536R|VAV1_uc010dva.1_Missense_Mutation_p.G568R|VAV1_uc002mfv.1_Missense_Mutation_p.G513R	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	568					T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TGGCCGACATGGGCAAGGTAC	0.582000														46			35		0	0	0.002445	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832987	24832987	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr10:24832987G>A	uc001iru.4	+	18	5191	c.4788G>A	c.(4786-4788)ggG>ggA	p.G1596G	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Silent_p.G1279G|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Silent_p.G432G	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1596					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTAAAACAGGGAAGAAGACTT	0.458000														64			32		0	0	0.004289	0	0
SH3D19	152503	broad.mit.edu	37	4	152049406	152049406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:152049406C>T	uc010ipl.1	-	18	3164	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	SH3D19_uc003imb.2_Missense_Mutation_p.E447K|SH3D19_uc003imc.2_Missense_Mutation_p.E633K|SH3D19_uc003ime.2_Missense_Mutation_p.E669K|SH3D19_uc010ipm.2_Missense_Mutation_p.E669K	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	692	SH3 4.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	Golgi apparatus|cytosol|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TCCAGACGTTCCAGAATCTGG	0.532000														50			17		0	0	0.004990	0	0
APLNR	187	broad.mit.edu	37	11	57003831	57003831	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:57003831G>A	uc001njo.3	-	0	1097	c.648C>T	c.(646-648)atC>atT	p.I216I	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	216						integral to plasma membrane	G-protein coupled receptor activity	p.T215I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						AGGTCAGCATGATGGTGAAGG	0.622000														42			17		0	0	0.007413	0	0
DPP6	1804	broad.mit.edu	37	7	154143391	154143391	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:154143391C>T	uc003wlk.3	+	1	465	c.336C>T	c.(334-336)acC>acT	p.T112T	DPP6_uc003wli.3_Silent_p.T48T|DPP6_uc003wlj.3_Silent_p.T112T|DPP6_uc010lqh.1_Silent_p.T50T|DPP6_uc003wlm.3_Silent_p.T50T|DPP6_uc011kvq.2_Silent_p.T50T	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	112					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGATCGTCACCTCGGTCATAC	0.438000														89			14		0	0	0.003163	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889835	23889835	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:23889835G>C	uc001ywj.4	-	0	3159	c.3055C>G	c.(3055-3057)Ccc>Gcc	p.P1019A		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TCATCCAAGGGAGACAAGGGC	0.572000														23			17		0	0	0.006122	0	0
FLG2	388698	broad.mit.edu	37	1	152326343	152326343	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:152326343C>T	uc001ezw.4	-	2	3992	c.3919G>A	c.(3919-3921)Gtt>Att	p.V1307I	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1307							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)			CTTCTGCGAACTGTGGATCCT	0.473000														245			50		0	0	0.003610	0	0
PREX2	80243	broad.mit.edu	37	8	68939480	68939480	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:68939480G>A	uc003xxv.1	+	4	492	c.465G>A	c.(463-465)cgG>cgA	p.R155R	PREX2_uc003xxu.1_Silent_p.R155R|PREX2_uc011lez.1_Silent_p.R90R	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	155	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.R155Q(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTGGAGGACGGAAGAACACAG	0.358000														45			9		0	0	0.004482	0	0
FGGY	55277	broad.mit.edu	37	1	60139762	60139762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:60139762C>T	uc009wac.3	+	14	1753	c.1541C>T	c.(1540-1542)gCt>gTt	p.A514V	FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Missense_Mutation_p.A490V|FGGY_uc001czl.4_Missense_Mutation_p.A402V|FGGY_uc001czm.4_Missense_Mutation_p.A191V	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	490					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GTGGGTGCTGCTGTTCTGGGT	0.612000														30			6		0	0	0.003080	0	0
KLRC4	8302	broad.mit.edu	37	12	10560383	10560383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:10560383G>A	uc001qye.3	-	3	528	c.346C>T	c.(346-348)Cat>Tat	p.H116Y	KLRK1_uc001qyc.3_5'UTR|KLRK1_uc009zhk.3_5'UTR|KLRK1_uc001qyd.3_5'UTR	NM_013431	NP_038459	O43908	NKG2F_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 4 (KLRC4), mRNA.	116					cellular defense response	integral to membrane	binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						TGGCCACAATGACGTGCTAAA	0.318000														91			63		0	0	0.003610	0	0
LGR5	8549	broad.mit.edu	37	12	71971717	71971717	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:71971717G>A	uc001swl.3	+	13	1269	c.1221G>A	c.(1219-1221)tgG>tgA	p.W407*	LGR5_uc001swm.3_Nonsense_Mutation_p.W383*|LGR5_uc021rar.1_Nonsense_Mutation_p.W335*|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	407						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ATTTGGCTTGGAACAAAATTG	0.308000														494			131		0	0	0.003610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661398	176661398	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:176661398C>T	uc001gkz.3	+	5	3732	c.2568C>T	c.(2566-2568)acC>acT	p.T856T	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	856					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						TCGGACAGACCAACAAGTCCC	0.517000														159			36		0	0	0.006230	0	0
EDIL3	10085	broad.mit.edu	37	5	83360657	83360657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:83360657G>A	uc003kio.1	-	7	1233	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C	EDIL3_uc003kip.1_Missense_Mutation_p.R262C|EDIL3_uc011ctt.1_Missense_Mutation_p.R49C	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	272	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		ATGTTTCCACGAAACACCTGT	0.338000														37			8		0	0	0.003080	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8216517	8216517	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:8216517C>T	uc002glc.3	+	2	1034	c.879C>T	c.(877-879)ttC>ttT	p.F293F	ARHGEF15_uc002glb.2_3'UTR|ARHGEF15_uc002gld.3_Silent_p.F293F|ARHGEF15_uc010vuw.2_Intron	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	293					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCACCATTTTCGGGGACCCCC	0.592000														38			7		0	0	0.004482	0	0
TTC27	55622	broad.mit.edu	37	2	32983364	32983364	+	Silent	SNP	A	G	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:32983364A>G	uc002rom.3	+	12	1731	c.1458A>G	c.(1456-1458)gaA>gaG	p.E486E	TTC27_uc010ymx.2_Silent_p.E436E	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	486							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TCTAGGCAGAAGAAATCCTTA	0.368000														42			16		0	0	0.003163	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64608226	64608226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:64608226C>T	uc003dmg.3	-	16	2458	c.2426G>A	c.(2425-2427)gGa>gAa	p.G809E	ADAMTS9_uc011bfo.2_Missense_Mutation_p.G781E|ADAMTS9_uc003dmh.1_Missense_Mutation_p.G638E|ADAMTS9_uc003dmk.1_Missense_Mutation_p.G809E	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	809	Spacer.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		AACAAAGTTTCCATTTAGCAA	0.393000														351			101		0	0	0.003610	0	0
RNF20	56254	broad.mit.edu	37	9	104319879	104319879	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:104319879G>A	uc004bbn.3	+	16	2472	c.2382_splice	c.e16+1	p.Q794_splice		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	Homo sapiens ring finger protein 20 (RNF20), mRNA.	794					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GAAGACTCAGGTAATTAGGAT	0.393000														28			7		0	0	0.004482	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24251645	24251645	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:24251645G>A	uc003xdz.2	+	3	568	c.348G>A	c.(346-348)acG>acA	p.T116T	ADAMDEC1_uc010lub.2_Silent_p.T37T|ADAMDEC1_uc011lab.1_Silent_p.T37T	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	116					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AAATTACCACGAAACCTGAGA	0.458000														21			9		0	0	0.006214	0	0
KCNA4	3739	broad.mit.edu	37	11	30034030	30034030	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:30034030G>A	uc021qfi.1	-	0	196	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	KCNA4_uc001msk.3_Nonsense_Mutation_p.Q66*	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	66						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCGCGTGACTGGTGGTGGTGG	0.657000														38			16		0	0	0.004990	0	0
C15orf2	23742	broad.mit.edu	37	15	24921149	24921149	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:24921149C>T	uc001ywo.3	+	0	609	c.135C>T	c.(133-135)cgC>cgT	p.R45R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	45					cell differentiation|multicellular organismal development|spermatogenesis			p.R45C(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCACCCCGCGCCCTTTCCGCG	0.766000														27			12		0	0	0.004007	0	0
GARNL3	84253	broad.mit.edu	37	9	130111261	130111261	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:130111261C>T	uc011mae.2	+	16	1891	c.1490C>T	c.(1489-1491)cCc>cTc	p.P497L	GARNL3_uc011mad.2_Missense_Mutation_p.P475L	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA.	497	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TGTGCAGATCCCTGGGGCCAG	0.502000														41			12		0	0	0.004007	0	0
STAB1	23166	broad.mit.edu	37	3	52539712	52539712	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:52539712G>A	uc003dej.3	+	14	1684	c.1610G>A	c.(1609-1611)gGa>gAa	p.G537E	STAB1_uc003dei.1_Missense_Mutation_p.G537E	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	537	FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ATCCTGGACGGACCTGGGCCC	0.637000														26			15		0	0	0.004990	0	0
RBMY1A3P	286557	broad.mit.edu	37	Y	9160425	9160425	+	RNA	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrY:9160425C>T	uc004frl.1	-	0		c.59G>A								Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA.																		TCTCATTGGTCTCTCTATTGA	0.383000														15			4		0	0	0.000602	0	0
RELN	5649	broad.mit.edu	37	7	103202089	103202089	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:103202089C>T	uc022ajr.1	-	35	5579	c.5419G>A	c.(5419-5421)Gat>Aat	p.D1807N	RELN_uc022ajq.1_Missense_Mutation_p.D1807N|RELN_uc010liz.3_Missense_Mutation_p.D1807N	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1807					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCATTGAAATCGTCTTTAAGA	0.453000														42			11		0	0	0.000978	0	0
CEACAM5	1048	broad.mit.edu	37	19	42218936	42218936	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:42218936G>A	uc002orl.3	+	2	592	c.471G>A	c.(469-471)gtG>gtA	p.V157V	CEACAM5_uc010ehz.1_Silent_p.V157V|CEACAM5_uc002orj.1_Silent_p.V157V	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	157	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCAAACCCGTGGAGGACAAGG	0.562000														98			30		0	0	0.002096	0	0
RPS20	6224	broad.mit.edu	37	8	56985769	56985769	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:56985769G>A	uc003xsm.2	-	3	438	c.240C>T	c.(238-240)ttC>ttT	p.F80F	RPS20_uc003xsn.2_Silent_p.F80F	NM_001146227	NP_001139699	P60866	RS20_HUMAN	Homo sapiens ribosomal protein S20 (RPS20), transcript variant 1, mRNA.	80					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			TTCTCATCTGGAAACGATCCC	0.413000														98			25		0	0	0.007291	0	0
ADAM7	8756	broad.mit.edu	37	8	24350590	24350590	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:24350590G>A	uc003xeb.3	+	15	1803	c.1690G>A	c.(1690-1692)Ggg>Agg	p.G564R	ADAM7_uc003xec.3_Missense_Mutation_p.G336R	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	564	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CTGCACTGGAGGGGAGCTTTC	0.403000														53			14		0	0	0.004990	0	0
ARMC9	80210	broad.mit.edu	37	2	232079550	232079550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:232079550C>T	uc002vrq.4	+	3	296	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	ARMC9_uc002vrp.4_Missense_Mutation_p.L62F	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.	62							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		ACAGAAGGATCTTGTCGCTGC	0.468000														64			17		0	0	0.006122	0	0
LRTM2	654429	broad.mit.edu	37	12	1940101	1940101	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:1940101G>A	uc001qjt.2	+	4	874	c.68_splice	c.e4-1	p.W23_splice	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Splice_Site_p.W23_splice|LRTM2_uc010sdx.1_Splice_Site_p.W23_splice|LRTM2_uc001qjv.2_Intron	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	23						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TCCCACCAAGGGATCACCTGC	0.592000														21			7		0	0	0.003080	0	0
XIST	7503	broad.mit.edu	37	X	73068856	73068856	+	RNA	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:73068856G>A	uc004ebm.1	-	0		c.3733C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GTTATGCAAAGATGTTTGCAA	0.378000														16			13		0	0	0.001368	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904114	21904114	+	RNA	SNP	A	G	G	rs75848292		TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:21904114A>G	uc002gza.2	+	0		c.53A>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		tccggctgccaggagtcgcaa	0.687000														12			4		0	0	0.000248	0	0
MYOM2	9172	broad.mit.edu	37	8	2057229	2057230	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:2057229_2057230GG>AA	uc003wpx.4	+	24	3225_3226	c.3087_3088GG>AA	c.(3085-3090)aagggg>aaAAgg	p.G1030R	MYOM2_uc011kwi.2_Missense_Mutation_p.G455R	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1030					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TTTTTGATAAGGGGCGGGTTCG	0.436000														34			9		0	0	0.004672	0	0
RBM27	54439	broad.mit.edu	37	5	145609352	145609352	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:145609352C>T	uc003lnz.4	+	4	634	c.468C>T	c.(466-468)taC>taT	p.Y156Y	RBM27_uc003lny.2_Silent_p.Y156Y	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	156	Arg-rich.				mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGAATTGTACCGTGAGAAGT	0.468000														88			27		0	0	0.003954	0	0
ELL	8178	broad.mit.edu	37	19	18557179	18557180	+	Missense_Mutation	DNP	CC	TT	TT	rs115932129	byFrequency	TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:18557179_18557180CC>TT	uc002njh.3	-	9	1715_1716	c.1643_1644GG>AA	c.(1642-1644)cgg>cAA	p.R548Q	ELL_uc010ebq.3_Missense_Mutation_p.R491Q|ELL_uc002njg.3_Missense_Mutation_p.R415Q	NM_006532	NP_006523	P55199	ELL_HUMAN	Homo sapiens elongation factor RNA polymerase II (ELL), mRNA.	548					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		GGGTGAACCGCCGCGTGATGCG	0.658000			T	MLL	AL									19			7		0	0	0.004672	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140763535	140763536	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:140763535_140763536CC>TT	uc003lka.2	+	0	1069_1070	c.1069_1070CC>TT	c.(1069-1071)cct>TTt	p.P357F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Missense_Mutation_p.P357F	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	360	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N357K(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGCTCAATCCCTGAAGACACA	0.426000														40			12		0	0	0.004672	0	0
ZNF790	388536	broad.mit.edu	37	19	37309763	37309763	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:37309763G>A	uc021utk.1	-	4	1912	c.1483C>T	c.(1483-1485)Cga>Tga	p.R495*	LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Nonsense_Mutation_p.R495*|ZNF790_uc021utl.1_Nonsense_Mutation_p.R495*|ZNF790_uc021utm.1_Nonsense_Mutation_p.R495*	NM_001242802	NP_001229731	Q6PG37	ZN790_HUMAN	Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA.	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTCTGGTGTCGATTAAGTTCT	0.393000														40			19		0	0	0.001523	0	0
GNAL	2774	broad.mit.edu	37	18	11867202	11867202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr18:11867202G>A	uc002kqc.2	+	7	1314	c.887G>A	c.(886-888)aGa>aAa	p.R296K	GNAL_uc002kqd.2_Missense_Mutation_p.R219K|GNAL_uc010dkz.2_Missense_Mutation_p.R219K|GNAL_uc010wzt.1_Missense_Mutation_p.R12K	NM_182978	NP_892023	P38405	GNAL_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type (GNAL), transcript variant 1, mRNA.	219					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|adenylate cyclase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GATGAGAGGAGAAAATGGATC	0.438000														40			9		0	0	0.008291	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18766227	18766227	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:18766227C>T	uc010exr.3	-	3	394	c.282G>A	c.(280-282)acG>acA	p.T94T	NT5C1B-RDH14_uc002rcy.3_Silent_p.T152T|NT5C1B-RDH14_uc010yju.2_Silent_p.T92T|NT5C1B-RDH14_uc002rcz.3_Silent_p.T152T|NT5C1B-RDH14_uc010yjw.2_Silent_p.T135T|NT5C1B-RDH14_uc010yjv.2_Silent_p.T169T|NT5C1B-RDH14_uc010exs.3_Silent_p.T154T|NT5C1B-RDH14_uc002rda.3_Silent_p.T92T|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_5'UTR	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	152					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										TCCGGGAGCTCGTGGAGCTGC	0.662000														16			4		0	0	0.000248	0	0
CAGE1	285782	broad.mit.edu	37	6	7373595	7373595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr6:7373595G>A	uc003mxl.2	-	4	1988	c.1457C>T	c.(1456-1458)tCt>tTt	p.S486F	CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Missense_Mutation_p.S350F|CAGE1_uc003mxj.3_Missense_Mutation_p.S241F|CAGE1_uc003mxk.2_Missense_Mutation_p.S486F	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	486										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CTCCTGTAAAGACAAGAACTC	0.393000														30			6		0	0	0.001984	0	0
LOC650368	650368	broad.mit.edu	37	11	3429945	3429946	+	RNA	DNP	GG	AA	AA			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:3429945_3429946GG>AA	uc010qxs.1	+	10		c.1044_1045GG>AA			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTGATCCTGCGGGCAAGCTAAA	0.530000														32			11		0	0	0.004672	0	0
CR1	1378	broad.mit.edu	37	1	207803933	207803933	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:207803933C>T	uc001hfy.3	+	37	6214	c.6074C>T	c.(6073-6075)cCc>cTc	p.P2025L	CR1_uc001hfx.3_Missense_Mutation_p.P2475L|CR1_uc021pij.1_Missense_Mutation_p.P2025L	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	2025					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGCGTTCATCCCCGAACTCTG	0.353000														12			16		0	0	0.004990	0	0
DEFB118	117285	broad.mit.edu	37	20	29960927	29960927	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr20:29960927G>A	uc002wvr.3	+	1	359	c.326G>A	c.(325-327)gGa>gAa	p.G109E		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Homo sapiens defensin, beta 118 (DEFB118), mRNA.	109					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCTGAGGCGGGAAGGGGAACT	0.433000														49			24		0	0	0.004656	0	0
TRIO	7204	broad.mit.edu	37	5	14482699	14482699	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:14482699C>T	uc003jff.3	+	45	6480	c.6474C>T	c.(6472-6474)atC>atT	p.I2158I	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Silent_p.I1807I	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2158	PH 2.				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|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase 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)					AGGGGAAAATCGTTGCCCAGG	0.453000														17			6		0	0	0.003080	0	0
ART3	419	broad.mit.edu	37	4	77003601	77003601	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:77003601C>T	uc003hjo.3	+	2	828	c.694C>T	c.(694-696)Caa>Taa	p.Q232*	ART3_uc003hji.3_Nonsense_Mutation_p.Q232*|ART3_uc003hjj.3_Nonsense_Mutation_p.Q232*|ART3_uc003hjk.3_Nonsense_Mutation_p.Q232*|ART3_uc010ija.2_Nonsense_Mutation_p.Q232*|ART3_uc003hjn.3_Nonsense_Mutation_p.Q232*|ART3_uc003hjp.3_Intron|ART3_uc010ijb.3_Intron|ART3_uc003hjq.3_Intron|ART3_uc003hjr.3_Nonsense_Mutation_p.Q202*|ART3_uc010ijc.3_Nonsense_Mutation_p.Q202*|ART3_uc010ijd.3_Nonsense_Mutation_p.Q202*	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Homo sapiens ADP-ribosyltransferase 3 (ART3), transcript variant 1, mRNA.	232					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGAGGTTTTTCAAGTGTCACA	0.393000														35			12		0	0	0.000978	0	0
TPO	7173	broad.mit.edu	37	2	1480905	1480905	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:1480905C>T	uc002qwr.3	+	7	953	c.867C>T	c.(865-867)ttC>ttT	p.F289F	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.F289F|TPO_uc002qwx.3_Silent_p.F289F|TPO_uc002qwu.3_Silent_p.F289F|TPO_uc010yio.2_Intron|TPO_uc010yip.2_Silent_p.F289F	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	289					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GTCTGCCCTTCTACCGCTCTT	0.697000														26			12		0	0	0.001368	0	0
TRPC6	7225	broad.mit.edu	37	11	101374914	101374914	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:101374914C>T	uc001pgk.4	-	1	1211	c.786G>A	c.(784-786)caG>caA	p.Q262Q	TRPC6_uc009ywy.3_Silent_p.Q262Q|TRPC6_uc009ywz.1_Silent_p.Q262Q	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	262					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGTCATGCTTCTGTTTCTGGT	0.468000														96			35		0	0	0.004878	0	0
PPP1R1C	151242	broad.mit.edu	37	2	182852601	182852601	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:182852601G>A	uc010frm.1	+	1	425	c.138G>A	c.(136-138)gtG>gtA	p.V46V	PPP1R1C_uc002uoo.3_Silent_p.V39V|PPP1R1C_uc002uop.1_Silent_p.V39V|PPP1R1C_uc010frn.1_Non-coding_Transcript	NM_001080545	NP_001074014	Q8WVI7	PPR1C_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1C (PPP1R1C), mRNA.	39					signal transduction	cytoplasm	protein phosphatase inhibitor activity	p.N45S(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			CATCACTTGTGATTCTCAATG	0.418000														131			40		0	0	0.003214	0	0
GBA3	57733	broad.mit.edu	37	4	22749261	22749261	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:22749261C>T	uc003gqp.4	+	2	720	c.629C>T	c.(628-630)tCc>tTc	p.S210F	GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Missense_Mutation_p.S211F	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	210					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGCTATGATTCCTTATTTCGA	0.473000														109			37		0	0	0.003271	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36103869	36103870	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr14:36103869_36103870GG>TA	uc001wtj.3	-	31	4778_4779	c.4387_4388CC>TA	c.(4387-4389)cct>TAt	p.P1463Y	RALGAPA1_uc010amp.3_Non-coding_Transcript|RALGAPA1_uc001wti.3_Missense_Mutation_p.P1463Y|RALGAPA1_uc010tpv.2_Missense_Mutation_p.P1476Y|RALGAPA1_uc010tpw.1_Missense_Mutation_p.P1510Y	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	1463	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATGCATAAAAGGATCATAATCT	0.416000														25			12		0	0	0.004672	0	0
HECW2	57520	broad.mit.edu	37	2	197086970	197086970	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:197086970G>A	uc002utm.1	-	23	4294	c.4111C>T	c.(4111-4113)Ctc>Ttc	p.L1371F	HECW2_uc002utl.1_Missense_Mutation_p.L1015F	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1371	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTGAACGTGAGGTCTAGGATG	0.448000														55			16		0	0	0.004007	0	0
ROR2	4920	broad.mit.edu	37	9	94486979	94486979	+	Silent	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:94486979G>A	uc004arj.2	-	8	1996	c.1797C>T	c.(1795-1797)atC>atT	p.I599I	ROR2_uc004ari.1_Silent_p.I459I	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	599	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCCCCGCCGCGATCTGTGCCA	0.622000														40			14		0	0	0.006122	0	0
ADAM2	2515	broad.mit.edu	37	8	39626988	39626988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:39626988G>A	uc003xnj.3	-	11	1210	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	ADAM2_uc003xnk.3_Missense_Mutation_p.P360S|ADAM2_uc011lck.2_Missense_Mutation_p.P379S|ADAM2_uc003xnl.3_Missense_Mutation_p.P253S	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	379					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTGAAAAAAGGATCTAAGCGA	0.443000														39			16		0	0	0.004007	0	0
ABCC5	10057	broad.mit.edu	37	3	183669325	183669325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:183669325C>T	uc003fmg.3	-	19	3013	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	ABCC5_uc011bqt.2_Missense_Mutation_p.E478K|ABCC5_uc010hxl.3_Missense_Mutation_p.E950K	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	950	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CGGAAAAGCTCGTCATGCAGC	0.557000														58			25		0	0	0.007291	0	0
THBS1	7057	broad.mit.edu	37	15	39874527	39874527	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:39874527C>T	uc001zkh.3	+	2	380	c.201C>T	c.(199-201)atC>atT	p.I67I		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	67	Heparin-binding.|TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CCAACCTGATCCCCCCTGTGC	0.622000														34			7		0	0	0.001984	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463406	5463406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:5463406C>T	uc003jdm.4	+	12	4181	c.3959C>T	c.(3958-3960)cCa>cTa	p.P1320L		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1320										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAACCAACCCCACAAGCAGCT	0.493000														14			4		0	0	0.000248	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					30			39		0	0	0.007835	0	0
PCLO	27445	broad.mit.edu	37	7	82580556	82580556	+	Silent	SNP	C	T	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:82580556C>T	uc003uhx.2	-	5	9637	c.9348G>A	c.(9346-9348)agG>agA	p.R3116R	PCLO_uc003uhv.2_Silent_p.R3116R|PCLO_uc010lec.3_Silent_p.R81R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3047					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						CAGACAAATCCCTCACTGTGG	0.448000														17			26		0	0	0.005443	0	0
KLHL23	151230	broad.mit.edu	37	2	170591984	170591996	+	Frame_Shift_Del	DEL	CTAGAGAAGGAAT	-	-			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:170591984_170591996delCTAGAGAAGGAAT	uc002ufh.2	+	3	835_847	c.460_472delCTAGAGAAGGAAT	c.(460-474)ctagagaaggaatctfs	p.L154fs	KLHL23_uc002ufi.2_Frame_Shift_Del_p.L154fs	NM_001199290	NP_001186219	Q8NBE8	KLH23_HUMAN	Homo sapiens PHOSPHO2-KLHL23 readthrough (PHOSPHO2-KLHL23), mRNA.	154	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						GTGTCCAGAACTAGAGAAGGAATCTCGAAGAAT	0.371													---	83	---	---	18	---					
KIAA1211	57482	broad.mit.edu	37	4	57180878	57180880	+	In_Frame_Del	DEL	GAG	-	-			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:57180878_57180880delGAG	uc003hbk.2	+	7	1601_1603	c.1210_1212delGAG	c.(1210-1212)gagdel	p.E407del	KIAA1211_uc010iha.2_In_Frame_Del_p.E400del|KIAA1211_uc011bzz.1_In_Frame_Del_p.E317del|KIAA1211_uc003hbm.1_In_Frame_Del_p.E293del	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	407	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					tctgggggaagaggaggaggagg	0.675													---	4	---	---	2	---					
DIS3	22894	broad.mit.edu	37	13	73355847	73355847	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr13:73355847delC	uc001vix.4	-	0	498	c.124delG	c.(124-126)gcgfs	p.A42fs	PIBF1_uc010aeo.1_5'Flank|PIBF1_uc001vjb.3_5'Flank|PIBF1_uc001vjc.3_5'Flank|PIBF1_uc010aep.3_5'Flank|DIS3_uc001viy.4_Frame_Shift_Del_p.A42fs|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	42					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CCCTCGTGCGCCCCTCCACAC	0.687										Multiple Myeloma(4;0.011)			---	4	---	---	2	---					
