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
MEGF6	1953	broad.mit.edu	37	1	3425698	3425698	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:3425698A>G	uc001akl.3	-	11	1696	c.1469T>C	c.(1468-1470)gTc>gCc	p.V490A	MEGF6_uc001akk.3_Missense_Mutation_p.V385A	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	490						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		ATCGGCCCCGACGTCGTCATC	0.682												
SNX7	51375	broad.mit.edu	37	1	99203845	99203845	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:99203845C>T	uc010ouc.2	+	7	1230	c.1178C>T	c.(1177-1179)gCc>gTc	p.A393V	SNX7_uc001dsa.3_Intron|SNX7_uc010oud.2_Missense_Mutation_p.A338V	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN	Homo sapiens sorting nexin 7 (SNX7), transcript variant 1, mRNA.	329					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GCTAATAATGCCCTGAAAGCA	0.348												
AMPD2	271	broad.mit.edu	37	1	110172108	110172108	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:110172108C>T	uc009wfh.1	+	14	2562	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Missense_Mutation_p.R593C|AMPD2_uc001dyc.1_Missense_Mutation_p.R674C|AMPD2_uc010ovr.1_Missense_Mutation_p.R599C|AMPD2_uc001dyd.1_Missense_Mutation_p.R555C|AMPD2_uc001dye.1_5'UTR	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	674					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAACCACCTGCGCAGGTGCCT	0.602												
FLG	2312	broad.mit.edu	37	1	152281686	152281686	+	Silent	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:152281686G>A	uc001ezu.1	-	2	5712	c.5676C>T	c.(5674-5676)gcC>gcT	p.A1892A		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1892	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.A1892A(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAGCTGTCGGCCCGAGAGG	0.572									Ichthyosis			
LELP1	149018	broad.mit.edu	37	1	153177307	153177307	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:153177307C>T	uc001fbl.3	+	1	234	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	LELP1_uc021ozv.1_Missense_Mutation_p.R42C	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA.	42	Cys/Pro-rich.							p.R42C(4)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGCTGCAACGCTGTTTCGA	0.552												
NUP210L	91181	broad.mit.edu	37	1	154067448	154067448	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:154067448T>C	uc001fdw.3	-	14	2222	c.2150A>G	c.(2149-2151)tAc>tGc	p.Y717C	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.Y717C	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	717						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCGGTAGATGTACTGGTTCTG	0.398												
ANGEL2	90806	broad.mit.edu	37	1	213181756	213181756	+	Silent	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:213181756C>T	uc001hjz.3	-	2	593	c.438G>A	c.(436-438)acG>acA	p.T146T	ANGEL2_uc010pto.2_Silent_p.T20T|ANGEL2_uc010ptp.2_Silent_p.T20T|ANGEL2_uc001hka.3_5'UTR|ANGEL2_uc010ptq.2_Non-coding_Transcript|ANGEL2_uc001hkb.3_Silent_p.T124T	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN	Homo sapiens angel homolog 2 (Drosophila) (ANGEL2), mRNA.	146										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CTAGGATCTTCGTTTTTTCTT	0.323												
OBSCN	84033	broad.mit.edu	37	1	228557749	228557749	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:228557749G>A	uc009xez.1	+	90	20118	c.20074G>A	c.(20074-20076)Gaa>Aaa	p.E6692K	OBSCN_uc001hsr.1_Missense_Mutation_p.E1321K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6692	Protein kinase 1.				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	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.F6692F(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCACCTCAGCGAAGACGCCAA	0.667												
SIPA1L2	57568	broad.mit.edu	37	1	232649623	232649623	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:232649623C>T	uc001hvg.3	-	0	1621	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	488					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAAGAATTTGCGGTAATAATA	0.453												
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453												
OR4C16	219428	broad.mit.edu	37	11	55340484	55340484	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:55340484G>A	uc010rih.2	+	0	881	c.881G>A	c.(880-882)aGt>aAt	p.S294N		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GAAGTGAAAAGTGCCATGAGG	0.368												
OR8H1	219469	broad.mit.edu	37	11	56058035	56058035	+	Silent	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:56058035G>A	uc010rje.2	-	0	504	c.504C>T	c.(502-504)tgC>tgT	p.C168C		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CATTTGAGTCGCAGAAATGCA	0.433												
OSBP	5007	broad.mit.edu	37	11	59368009	59368009	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:59368009T>C	uc001noc.1	-	6	1751	c.1271A>G	c.(1270-1272)aAg>aGg	p.K424R	OSBP_uc009ymr.1_Non-coding_Transcript	NM_002556	NP_002547	P22059	OSBP1_HUMAN	Homo sapiens oxysterol binding protein (OSBP), mRNA.	424	Sterol binding (By similarity).				lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AATGCAGTTCTTCATGATGCT	0.468												
ACTN3	89	broad.mit.edu	37	11	66328735	66328737	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:66328735_66328737delAGG	uc021qma.1	+	5	665_667	c.152_154delAGG	c.(151-156)caggag>cag	p.E53del	ACTN3_uc021qlz.1_Non-coding_Transcript			Q08043	ACTN3_HUMAN	Homo sapiens actinin, alpha 3 (ACTN3), mRNA.	635	Actin-binding.|CH 1.				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CAGACACTGCAGGAGGAGCTGGC	0.621												
NAALAD2	10003	broad.mit.edu	37	11	89882229	89882229	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:89882229A>G	uc001pdf.4	+	3	546	c.437A>G	c.(436-438)aAt>aGt	p.N146S	NAALAD2_uc009yvx.3_Missense_Mutation_p.N146S|NAALAD2_uc009yvy.3_Missense_Mutation_p.N146S|NAALAD2_uc001pdd.2_Missense_Mutation_p.N146S|NAALAD2_uc001pde.3_Missense_Mutation_p.N146S	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	146					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AATGTTACAAATATTGTGCCA	0.328												
CLSTN3	9746	broad.mit.edu	37	12	7310162	7310162	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:7310162C>T	uc001qss.3	+	15	3179	c.2641C>T	c.(2641-2643)Cgc>Tgc	p.R881C	CLSTN3_uc001qsr.3_Missense_Mutation_p.R869C|CLSTN3_uc001qst.3_Missense_Mutation_p.R277C	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	869					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGGCCTGGTGCGCATCCATTC	0.657												
PPFIBP1	8496	broad.mit.edu	37	12	27841316	27841316	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:27841316C>T	uc001ric.2	+	24	2851	c.2474C>T	c.(2473-2475)gCg>gTg	p.A825V	PPFIBP1_uc010sjr.1_Missense_Mutation_p.A656V|PPFIBP1_uc001rib.2_Missense_Mutation_p.A819V|PPFIBP1_uc001ria.3_Missense_Mutation_p.A794V|PPFIBP1_uc001rid.2_Missense_Mutation_p.A672V|PPFIBP1_uc001rif.2_Missense_Mutation_p.A332V|TRNA_Lys_uc021qwh.1_5'Flank	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	825	SAM 3.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GCAGAATATGCGCCCAATCTC	0.473												
SLC38A4	55089	broad.mit.edu	37	12	47163175	47163175	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:47163175G>A	uc001rpi.2	-	14	1735	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	SLC38A4_uc001rpj.2_Nonsense_Mutation_p.R446*	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	446					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTGAAGGGTCGTTTGGGAAAT	0.363												
DNAJC22	79962	broad.mit.edu	37	12	49745175	49745175	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:49745175C>T	uc001rua.3	+	2	1317	c.916C>T	c.(916-918)Cca>Tca	p.P306S	DNAJC22_uc001rub.3_Missense_Mutation_p.P306S	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 22 (DNAJC22), mRNA.	306	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						GGTCTGGCACCCAGACCACAA	0.522												
TARBP2	6895	broad.mit.edu	37	12	53895818	53895818	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:53895818G>A	uc001sdo.3	+	1	561	c.73G>A	c.(73-75)Gcc>Acc	p.A25T	MAP3K12_uc001sdm.2_5'Flank|MAP3K12_uc001sdn.2_5'Flank|TARBP2_uc009znb.3_Missense_Mutation_p.A25T|TARBP2_uc001sdp.3_Missense_Mutation_p.A4T|TARBP2_uc001sdr.3_5'UTR|TARBP2_uc001sdt.3_Missense_Mutation_p.A4T	NM_134323	NP_599151	Q15633	TRBP2_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 2 (TARBP2), transcript variant 1, mRNA.	25	Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						AATGCTGGCCGCCAACCCAGG	0.592												
CCDC63	160762	broad.mit.edu	37	12	111322003	111322003	+	Silent	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:111322003G>A	uc001trv.1	+	7	1218	c.1023G>A	c.(1021-1023)acG>acA	p.T341T	CCDC63_uc010sye.1_Silent_p.T301T|CCDC63_uc001trw.1_Silent_p.T256T	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	341										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CGTATGTCACGGAGCTCAACA	0.552												
OASL	8638	broad.mit.edu	37	12	121469372	121469372	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:121469372A>G	uc001tzj.1	-	2	536	c.530T>C	c.(529-531)cTg>cCg	p.L177P	OASL_uc001tzk.1_Missense_Mutation_p.L177P	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	177					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCCTTGATCAGGCTCACATA	0.552												
RIMBP2	23504	broad.mit.edu	37	12	130934752	130934752	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:130934752G>A	uc001uil.2	-	5	739	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	RIMBP2_uc001uim.3_Missense_Mutation_p.R83C	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	175	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TACCTATAGCGGGCAACACAG	0.552												
USPL1	10208	broad.mit.edu	37	13	31232152	31232152	+	Silent	SNP	A	A	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr13:31232152A>G	uc001utc.2	+	8	2370	c.1938A>G	c.(1936-1938)caA>caG	p.Q646Q	USPL1_uc001utd.2_Silent_p.Q317Q|USPL1_uc001ute.1_Silent_p.Q317Q	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	646					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AGCTTATTCAAGACCAATTTG	0.343												
THSD1	55901	broad.mit.edu	37	13	52951899	52951899	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr13:52951899T>C	uc001vgo.3	-	4	2751	c.2206A>G	c.(2206-2208)Agg>Ggg	p.R736G	THSD1_uc001vgp.3_Missense_Mutation_p.R683G|THSD1_uc010tgz.2_Missense_Mutation_p.R357G	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	736						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TCTGGTTTCCTCAAGGGCTGC	0.552												
EDDM3A	10876	broad.mit.edu	37	14	21216002	21216002	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr14:21216002G>A	uc021rom.1	+	0	263	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	EDDM3A_uc001vyc.3_Missense_Mutation_p.R88Q	NM_006683	NP_006674	Q14507	EP3A_HUMAN	Homo sapiens epididymal protein 3A (EDDM3A), mRNA.	88					sperm displacement	extracellular space		p.R88Q(2)|p.R88R(1)		breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GGGAGCGACCGATATAGAAAT	0.453												
MKRN3	7681	broad.mit.edu	37	15	23811039	23811039	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:23811039C>A	uc001ywh.4	+	0	586	c.110C>A	c.(109-111)cCc>cAc	p.P37H	MKRN3_uc001ywi.3_Missense_Mutation_p.P37H|MKRN3_uc010ayi.1_Missense_Mutation_p.P37H	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	37						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTCTGTGAGCCCTCCGGGGAA	0.687												
TMOD2	29767	broad.mit.edu	37	15	52075020	52075020	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:52075020G>C	uc002abk.3	+	6	948	c.727G>C	c.(727-729)Gcc>Ccc	p.A243P	TMOD2_uc002abl.4_Intron|TMOD2_uc010bfb.3_Missense_Mutation_p.A199P	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN	Homo sapiens tropomodulin 2 (neuronal) (TMOD2), transcript variant 1, mRNA.	243					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		TGACCCTGTGGCCATTGTGAG	0.398												
FSD2	123722	broad.mit.edu	37	15	83455346	83455346	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:83455346T>C	uc002bjd.2	-	2	819	c.652A>G	c.(652-654)Aaa>Gaa	p.K218E	FSD2_uc010uol.1_Missense_Mutation_p.K218E|FSD2_uc010uom.1_Missense_Mutation_p.K218E	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	218										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TACATGTTTTTGTGAATTTCA	0.363												
PDE8A	5151	broad.mit.edu	37	15	85664158	85664158	+	Missense_Mutation	SNP	C	C	G	rs144501404	byFrequency	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:85664158C>G	uc002blh.3	+	17	2054	c.1865C>G	c.(1864-1866)aCt>aGt	p.T622S	PDE8A_uc021stv.1_Missense_Mutation_p.T550S|PDE8A_uc002bli.3_Missense_Mutation_p.T576S|PDE8A_uc010bnc.3_Missense_Mutation_p.T375S|PDE8A_uc010bnd.3_Missense_Mutation_p.T375S|PDE8A_uc002blj.3_Missense_Mutation_p.T242S|PDE8A_uc002blk.3_Missense_Mutation_p.T242S|PDE8A_uc002bll.3_5'UTR	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	622	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TACAATGACACTGCTGTGCTG	0.483												
PCSK6	5046	broad.mit.edu	37	15	101853660	101853660	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:101853660C>T	uc002bxa.2	-	20	2931	c.2617G>A	c.(2617-2619)Gac>Aac	p.D873N	PCSK6_uc010bpd.3_Missense_Mutation_p.D670N|PCSK6_uc002bwy.3_Missense_Mutation_p.D873N|PCSK6_uc010bpe.3_Missense_Mutation_p.D857N|PCSK6_uc002bxb.2_Missense_Mutation_p.D860N	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	874	CRM (Cys-rich motif).				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CACTTCCAGTCGTGGAAGTGG	0.567												
SRCAP	10847	broad.mit.edu	37	16	30748891	30748894	+	Frame_Shift_Del	DEL	TCAT	TCAT	-			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr16:30748891_30748894delTCAT	uc002dze.1	+	33	7915_7918	c.7530_7533delTCAT	c.(7528-7533)gctcatfs	p.A2510fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.A2305fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2510	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ctccaccagctcatacaccgcctc	0.564												
CNTNAP4	85445	broad.mit.edu	37	16	76461484	76461484	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr16:76461484G>A	uc002fex.1	+	2	674	c.535G>A	c.(535-537)Gga>Aga	p.G179R	CNTNAP4_uc002feu.1_Missense_Mutation_p.G175R|CNTNAP4_uc002fev.1_Missense_Mutation_p.G88R|CNTNAP4_uc010chb.1_Missense_Mutation_p.G151R|CNTNAP4_uc002few.2_Missense_Mutation_p.G151R	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	176					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CGAAGTGTTCGGATGTGCATA	0.398												
ADAMTS18	170692	broad.mit.edu	37	16	77389861	77389861	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr16:77389861C>T	uc002ffc.4	-	8	1855	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H	ADAMTS18_uc010chc.1_Missense_Mutation_p.R67H|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R175H|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	479	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R479H(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GAGATACTGGCGGCTGCAGGA	0.488												
KRT38	8687	broad.mit.edu	37	17	39593695	39593695	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr17:39593695C>T	uc002hwq.1	-	6	1763	c.1340G>A	c.(1339-1341)tGt>tAt	p.C447Y		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	447	Tail.					intermediate filament	structural molecule activity	p.C447S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCTGGCTCCACAGGTGGGCCC	0.612												
DNM2	1785	broad.mit.edu	37	19	10887808	10887808	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:10887808G>A	uc002mpt.2	+	4	794	c.604G>A	c.(604-606)Ggt>Agt	p.G202S	DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Missense_Mutation_p.G202S|DNM2_uc010dxl.2_Missense_Mutation_p.G202S|DNM2_uc002mpu.2_Missense_Mutation_p.G202S|DNM2_uc002mpv.2_Missense_Mutation_p.G202S	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	202					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ACGGACCATCGGTGTCATCAC	0.597			"""F, N, Splice, Mis, O"""		ETP ALL							
CILP2	148113	broad.mit.edu	37	19	19654993	19654993	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:19654993G>A	uc002nmw.4	+	7	1742	c.1657G>A	c.(1657-1659)Gtg>Atg	p.V553M	CILP2_uc002nmv.4_Missense_Mutation_p.V547M	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	547						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AGGTGCCGGCGTGTACCACGA	0.622												
ZNF701	55762	broad.mit.edu	37	19	53085986	53085986	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:53085986A>G	uc010ydn.2	+	4	935	c.872A>G	c.(871-873)aAt>aGt	p.N291S	ZNF701_uc002pzs.2_Missense_Mutation_p.N225S|ZNF701_uc021uyw.1_Missense_Mutation_p.N291S	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AAAGCCTTTAATGGTAGCTCA	0.368												
LILRB2	10288	broad.mit.edu	37	19	54782295	54782295	+	Silent	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:54782295C>T	uc002qfb.3	-	6	1343	c.1077G>A	c.(1075-1077)gcG>gcA	p.A359A	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.A359A|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.A359A|LILRB2_uc010yet.2_Silent_p.A243A|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	359	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGCTGCTCCCGCCTTGGTCA	0.572												
ZSCAN18	65982	broad.mit.edu	37	19	58601319	58601319	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:58601319G>A	uc010yht.1	-	1	514	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	ZSCAN18_uc002qrj.3_Missense_Mutation_p.R106W|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.R106W|ZSCAN18_uc002qri.2_Missense_Mutation_p.R106W|ZSCAN18_uc002qrk.1_Missense_Mutation_p.R106W|ZSCAN18_uc002qrl.2_Missense_Mutation_p.R106W	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	106					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ACCCAGGGCCGGACCTTATCA	0.647												
MFSD9	84804	broad.mit.edu	37	2	103335600	103335600	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:103335600C>T	uc002tcb.2	-	5	772	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.R174Q	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	235					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						ATGGGTCTTTCGCAATGGCAG	0.567												
SLC5A7	60482	broad.mit.edu	37	2	108626880	108626880	+	Missense_Mutation	SNP	G	G	A	rs148535388	byFrequency	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:108626880G>A	uc002tdv.3	+	8	1582	c.1306G>A	c.(1306-1308)Gtg>Atg	p.V436M	SLC5A7_uc010ywm.2_Missense_Mutation_p.V189M|SLC5A7_uc010fjj.3_Missense_Mutation_p.V436M|SLC5A7_uc010ywn.2_Missense_Mutation_p.V323M	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	436					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTATGGGGCCGTGGCAGGTTA	0.488												
ZRANB3	84083	broad.mit.edu	37	2	135958008	135958008	+	Silent	SNP	T	T	C			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:135958008T>C	uc002tum.3	-	20	3261	c.3144A>G	c.(3142-3144)agA>agG	p.R1048R	ZRANB3_uc002tuk.3_Silent_p.R591R|ZRANB3_uc002tul.3_Silent_p.R1046R	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	1048						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTCTGGCAGTTCTCTAAAAGT	0.363												
CWC22	57703	broad.mit.edu	37	2	180810270	180810270	+	Silent	SNP	A	A	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:180810270A>G	uc010frh.1	-	19	2613	c.2313T>C	c.(2311-2313)aaT>aaC	p.N771N	CWC22_uc002uno.2_Silent_p.N293N|CWC22_uc002unp.2_Silent_p.N771N	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	Homo sapiens CWC22 spliceosome-associated protein homolog (S. cerevisiae) (CWC22), mRNA.	771						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						AACCACTTGAATTTTGATCTC	0.378												
FAM134A	79137	broad.mit.edu	37	2	220046109	220046109	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:220046109C>T	uc002vjw.4	+	6	939	c.803C>T	c.(802-804)gCa>gTa	p.A268V	FAM134A_uc010fwc.3_Missense_Mutation_p.A61V|FAM134A_uc002vjx.3_Missense_Mutation_p.A61V	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA.	268						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAAGAATGCACCCCCAGGA	0.547												
PAX3	5077	broad.mit.edu	37	2	223161799	223161799	+	Silent	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:223161799C>T	uc010fwo.3	-	1	600	c.219G>A	c.(217-219)tcG>tcA	p.S73S	PAX3_uc002vmt.2_Silent_p.S73S|PAX3_uc002vmy.2_Silent_p.S73S|PAX3_uc002vmv.2_Silent_p.S73S|PAX3_uc002vmw.2_Silent_p.S73S|PAX3_uc002vmx.2_Silent_p.S73S|PAX3_uc002vmz.2_Silent_p.S73S|PAX3_uc002vna.2_Silent_p.S73S|CCDC140_uc002vnb.1_5'Flank	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	73	Paired.		S -> L (in WS1).		apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCTGGCGCGAGATGACGC	0.647			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome					
COL4A4	1286	broad.mit.edu	37	2	227922184	227922184	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:227922184G>A	uc021vxr.1	-	27	2617	c.2516C>T	c.(2515-2517)cCg>cTg	p.P839L	COL4A4_uc021vxs.1_Missense_Mutation_p.P839L	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	839	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGGGAGTCCCGGTTGCCCTGG	0.537												
FRG1B	284802	broad.mit.edu	37	20	29625952	29625952	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr20:29625952C>A	uc010ztl.1	+	1	138	c.106C>A	c.(106-108)Cca>Aca	p.P36T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.L35F(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGCAATTGGACCAAGAGAACA	0.343												
MATN4	8785	broad.mit.edu	37	20	43933173	43933173	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr20:43933173G>A	uc002xnn.2	-	2	525	c.338C>T	c.(337-339)aCg>aTg	p.T113M	MATN4_uc002xnp.2_Missense_Mutation_p.T113M|MATN4_uc002xno.2_Missense_Mutation_p.T113M|MATN4_uc010zwr.1_Missense_Mutation_p.T61M|MATN4_uc002xnr.1_Missense_Mutation_p.T113M|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	113	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TGCCAGTCCCGTCATGGTGCC	0.667												
MC3R	4159	broad.mit.edu	37	20	54824649	54824649	+	Silent	SNP	G	G	C	rs139424256		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr20:54824649G>C	uc002xxb.2	+	0	862	c.750G>C	c.(748-750)gtG>gtC	p.V250V		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	287					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)			TCCTGGGCGTGTTCATCTTCT	0.597												
C20orf43	51507	broad.mit.edu	37	20	55093243	55093243	+	Silent	SNP	C	C	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr20:55093243C>G	uc010zzf.1	+	9	1040	c.933C>G	c.(931-933)ctC>ctG	p.L311L	C20orf43_uc002xxt.2_Silent_p.L281L|C20orf43_uc002xxu.2_Silent_p.L280L|GCNT7_uc010zzg.1_Intron	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	Homo sapiens chromosome 20 open reading frame 43 (C20orf43), mRNA.	281										breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	10			Colorectal(105;0.202)			ACAAGTCCCTCTTTACCACTC	0.577												
IFNAR2	3455	broad.mit.edu	37	21	34625094	34625094	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr21:34625094C>T	uc002yrd.3	+	6	996	c.668C>T	c.(667-669)tCt>tTt	p.S223F	IFNAR2_uc002yrb.3_Missense_Mutation_p.S223F|IFNAR2_uc002yrc.3_Missense_Mutation_p.S223F|IFNAR2_uc002yre.3_Missense_Mutation_p.S223F|IFNAR2_uc002yrf.3_Missense_Mutation_p.S223F|IFNAR2_uc002yri.1_5'UTR|IFNAR2_uc002yrh.1_Missense_Mutation_p.S73F	NM_207585	NP_997468	P48551	INAR2_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.	223					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GTAATAAAGTCTCCCTTAAAA	0.373												
TRPM2	7226	broad.mit.edu	37	21	45859043	45859043	+	Missense_Mutation	SNP	G	G	A	rs142254503	byFrequency	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr21:45859043G>A	uc010gpt.1	+	30	4511	c.4411G>A	c.(4411-4413)Ggc>Agc	p.G1471S	TRPM2_uc002zet.1_Missense_Mutation_p.G1421S|TRPM2_uc002zeu.1_Missense_Mutation_p.G1421S|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.G1421S|TRPM2_uc002zex.1_Missense_Mutation_p.G1207S|TRPM2_uc002zey.1_Missense_Mutation_p.G900S|TRPM2_uc011aff.1_Missense_Mutation_p.G102S	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1421	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCTGAAGTGCGGCATGGAGGT	0.602												
TSPEAR	54084	broad.mit.edu	37	21	45948411	45948411	+	Silent	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr21:45948411G>A	uc002zfe.1	-	5	912	c.846C>T	c.(844-846)gaC>gaT	p.D282D	TSPEAR_uc010gpv.1_Silent_p.D214D	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	282					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AGAACTGGGCGTCTTCCACCT	0.607												
ZNF280B	140883	broad.mit.edu	37	22	22842526	22842526	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr22:22842526C>T	uc002zwc.1	-	3	1974	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.E400K	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G399G(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAGGGCATTTCGCCAGGCTTA	0.433												
MOV10L1	54456	broad.mit.edu	37	22	50596602	50596602	+	Silent	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr22:50596602C>T	uc003bjj.3	+	22	3266	c.3183C>T	c.(3181-3183)agC>agT	p.S1061S	MOV10L1_uc003bjk.4_Silent_p.S1061S|MOV10L1_uc011arp.2_Silent_p.S1041S|MOV10L1_uc003bjl.3_Silent_p.S188S|MOV10L1_uc003bjm.1_Silent_p.S104S	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	1061					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGTCTGCCAGCGACATTGGCG	0.652												
CNTN4	152330	broad.mit.edu	37	3	2787313	2787313	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr3:2787313C>T	uc003bpc.3	+	5	629	c.290C>T	c.(289-291)aCg>aTg	p.T97M	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.T97M|CNTN4_uc003bpd.1_Missense_Mutation_p.T97M	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	97	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.E96K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GATGCTGGAACGTACCAGTGC	0.408												
CHST13	166012	broad.mit.edu	37	3	126260762	126260762	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr3:126260762G>A	uc003eja.3	+	2	412	c.367G>A	c.(367-369)Gtg>Atg	p.V123M		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 13 (CHST13), mRNA.	123					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CTGGAAGCGCGTGCTGCTGGC	0.716												
ECE2	9718	broad.mit.edu	37	3	184009860	184009860	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr3:184009860C>T	uc003fni.4	+	18	2524	c.2486C>T	c.(2485-2487)tCg>tTg	p.S829L	ECE2_uc003fnl.4_Missense_Mutation_p.S757L|ECE2_uc003fnm.4_Missense_Mutation_p.S711L|ECE2_uc003fnk.4_Missense_Mutation_p.S682L	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	829	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGTGGTGCTCGGTCCGCACA	0.647												
PDE6B	5158	broad.mit.edu	37	4	619767	619767	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr4:619767G>A	uc003gap.3	+	0	405	c.352G>A	c.(352-354)Gtc>Atc	p.V118I	PDE6B_uc003gao.4_Missense_Mutation_p.V118I	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	118	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GCCGGACAGCGTCCTGGAGGA	0.657												
AASDH	132949	broad.mit.edu	37	4	57237647	57237647	+	Silent	SNP	G	G	C			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr4:57237647G>C	uc003hbn.3	-	4	984	c.831C>G	c.(829-831)ctC>ctG	p.L277L	AASDH_uc010ihb.3_5'UTR|AASDH_uc003hbo.3_Silent_p.L177L|AASDH_uc011caa.2_Silent_p.L124L|AASDH_uc011cab.2_5'UTR|AASDH_uc010ihc.3_Silent_p.L277L|AASDH_uc003hbp.3_Silent_p.L277L	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.	277					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GATGGGAAAAGAGAACGCTGG	0.353												
FRG1	2483	broad.mit.edu	37	4	190876274	190876274	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr4:190876274C>A	uc003izs.3	+	4	591	c.400C>A	c.(400-402)Cca>Aca	p.P134T		NM_004477	NP_004468	Q14331	FRG1_HUMAN	Homo sapiens FSHD region gene 1 (FRG1), mRNA.	134					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGCAATTGGACCAAGAGAACA	0.358												
PRDM9	56979	broad.mit.edu	37	5	23527430	23527430	+	Nonsense_Mutation	SNP	G	G	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr5:23527430G>T	uc003jgo.3	+	10	2415	c.2233G>T	c.(2233-2235)Gag>Tag	p.E745*		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	745					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACACACAGGGGAGAAGCCCTA	0.582										HNSCC(3;0.000094)		
TNFAIP8	25816	broad.mit.edu	37	5	118728680	118728680	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr5:118728680G>T	uc003ksi.3	+	1	391	c.201G>T	c.(199-201)gaG>gaT	p.E67D	TNFAIP8_uc003ksf.1_Intron|TNFAIP8_uc003ksg.3_Missense_Mutation_p.E57D|TNFAIP8_uc011cwf.2_Missense_Mutation_p.E61D	NM_014350	NP_055165	O95379	TFIP8_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8 (TNFAIP8), transcript variant 1, mRNA.	67					anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		ACAAGAAGGAGGCAGAGAAGA	0.443												
PCDHAC2	56147	broad.mit.edu	37	5	140167119	140167119	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr5:140167119G>A	uc003lhb.2	+	0	1244	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	PCDHAC2_uc003lha.2_Missense_Mutation_p.R415H|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R415H	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	429	Cadherin 4.				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)			GCCCTGGATCGCGAGAGCCTG	0.637												
PCDHGC5	56113	broad.mit.edu	37	5	140719024	140719024	+	Silent	SNP	A	A	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr5:140719024A>G	uc003ljk.2	+	0	671	c.486A>G	c.(484-486)gtA>gtG	p.V162V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.V162V	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	162	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCAGACGTAGGTGAGAACG	0.522												
MGAT4B	11282	broad.mit.edu	37	5	179225986	179225986	+	Missense_Mutation	SNP	T	T	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr5:179225986T>G	uc003mkr.3	-	9	2094	c.1330A>C	c.(1330-1332)Acc>Ccc	p.T444P	MGAT4B_uc003mkp.3_Missense_Mutation_p.T283P|MGAT4B_uc003mkq.3_Missense_Mutation_p.H204P|MGAT4B_uc003mks.3_Missense_Mutation_p.T429P|MIR1229_uc021yjg.1_5'Flank	NM_054013	NP_463459	Q9UQ53	MGT4B_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B (MGAT4B), transcript variant 2, mRNA.	429					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGCAGGGGTGAAGGCCCAG	0.627												
DEFB110	245913	broad.mit.edu	37	6	49976857	49976857	+	Silent	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr6:49976857G>A	uc011dwr.2	-	1	229	c.183C>T	c.(181-183)tgC>tgT	p.C61C		NM_001037728	NP_001032817	Q30KQ9	DB110_HUMAN	Homo sapiens defensin, beta 110 locus (DEFB110), transcript variant 2, mRNA.	64					defense response to bacterium	extracellular region		p.C60C(1)		endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					GAGTTTATACGCAGCACTGAC	0.343												
SRSF12	135295	broad.mit.edu	37	6	89808574	89808574	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr6:89808574G>A	uc021zcq.1	-	4	703	c.509C>T	c.(508-510)cCa>cTa	p.P170L		NM_080743	NP_542781	Q8WXF0	SRS12_HUMAN	Homo sapiens serine/arginine-rich splicing factor 12 (SRSF12), mRNA.	170	Arg/Ser-rich (RS domain).				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						ATTCCTTCTTGGAGTTCTTGA	0.453												
KIAA1244	57221	broad.mit.edu	37	6	138599742	138599742	+	Silent	SNP	G	G	A	rs111857517	by1000genomes	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr6:138599742G>A	uc003qhu.3	+	12	2454	c.2283G>A	c.(2281-2283)gcG>gcA	p.A761A		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	761	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CGACCCTGGCGCCAGGCGTGA	0.612												
IGFBP3	3486	broad.mit.edu	37	7	45956872	45956872	+	Silent	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:45956872G>A	uc003tnr.3	-	1	720	c.588C>T	c.(586-588)taC>taT	p.Y196Y	IGFBP3_uc003tnq.3_Non-coding_Transcript|IGFBP3_uc003tns.3_Silent_p.Y190Y|IGFBP3_uc003tnt.3_Silent_p.Y93Y	NM_001013398	NP_001013416	P17936	IBP3_HUMAN	Homo sapiens insulin-like growth factor binding protein 3 (IGFBP3), transcript variant 1, mRNA.	190	Ser/Thr-rich.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	TCTGAGACTCGTAGTCAACTT	0.502											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TFPI2	7980	broad.mit.edu	37	7	93519456	93519456	+	Silent	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:93519456C>T	uc003umy.1	-	1	339	c.264G>A	c.(262-264)agG>agA	p.R88R	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.R88R|TFPI2_uc003una.1_Silent_p.R77R	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	88					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	p.R88K(1)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TACTTTCTATCCTCCAGCAAG	0.617												
PEG10	23089	broad.mit.edu	37	7	94293373	94293373	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:94293373C>T	uc003uno.3	+	1	984	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	PEG10_uc011kie.2_Missense_Mutation_p.R245C|PEG10_uc022ahn.1_Missense_Mutation_p.R169C	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	169	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GGTTGCCAAACGCAAGATCAG	0.537												
ZYX	7791	broad.mit.edu	37	7	143080252	143080252	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:143080252G>A	uc003wcx.3	+	4	1018	c.860G>A	c.(859-861)gGa>gAa	p.G287E	ZYX_uc011ktd.2_Missense_Mutation_p.G130E|ZYX_uc003wcw.3_Missense_Mutation_p.G287E|ZYX_uc011kte.2_Missense_Mutation_p.G256E|ZYX_uc011ktf.2_Missense_Mutation_p.G130E	NM_003461	NP_003452	Q15942	ZYX_HUMAN	Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.	287					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GCCCCAGGTGGATCTGGGTCA	0.577												
EPHA1	2041	broad.mit.edu	37	7	143095154	143095154	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:143095154G>A	uc003wcz.3	-	7	1561	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	492	Fibronectin type-III 2.		R -> Q (in dbSNP:rs11768549).			integral to plasma membrane	ATP binding|ephrin receptor activity	p.R492W(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ATCTGGTACCGTTCTTCATCC	0.572												
ASB10	136371	broad.mit.edu	37	7	150878355	150878355	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:150878355G>A	uc003wjm.1	-	2	1036	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	ASB10_uc003wjl.1_Missense_Mutation_p.R259C|ASB10_uc003wjn.1_Missense_Mutation_p.R244C	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	259					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACTGGCAGCGGACGTCACAG	0.647												
DOCK5	80005	broad.mit.edu	37	8	25250313	25250313	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr8:25250313C>T	uc003xeg.3	+	44	4578	c.4441_splice	c.e44-1	p.T1481_splice	DOCK5_uc003xek.3_Intron|DOCK5_uc003xei.3_Splice_Site_p.T1051_splice|DOCK5_uc003xej.3_Splice_Site	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1481	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGCCACCAGACGATGTGGATT	0.428												
CPSF1	29894	broad.mit.edu	37	8	145622709	145622709	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr8:145622709G>A	uc003zcj.3	-	21	2453	c.2378C>T	c.(2377-2379)aCc>aTc	p.T793I		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	793					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TACCTCCATGGTGCCATTCTC	0.672												
NPR2	4882	broad.mit.edu	37	9	35808664	35808664	+	Silent	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr9:35808664C>T	uc003zyd.3	+	18	2871	c.2871C>T	c.(2869-2871)cgC>cgT	p.R957R	NPR2_uc010mlb.3_Silent_p.R933R|SPAG8_uc003zye.3_Intron	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	957	Guanylate cyclase.		R -> C (in AMDM).		intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGAGGCTACGCATAGGGGTCC	0.542												
GLRA2	2742	broad.mit.edu	37	X	14599498	14599498	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chrX:14599498C>T	uc010neq.3	+	3	1224	c.464C>T	c.(463-465)tCg>tTg	p.S155L	GLRA2_uc004cwe.4_Missense_Mutation_p.S155L|GLRA2_uc011mio.2_Missense_Mutation_p.S66L|GLRA2_uc010nep.3_Missense_Mutation_p.S155L|GLRA2_uc011mip.2_Missense_Mutation_p.S133L	NM_002063	NP_002054	P23416	GLRA2_HUMAN	Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA.	155					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.S155L(3)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CTACGGATTTCGAAAAATGGC	0.453												
LANCL3	347404	broad.mit.edu	37	X	37431325	37431325	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chrX:37431325G>A	uc011mkd.2	+	0	504	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	LANCL3_uc004ddp.2_Missense_Mutation_p.G68S	NM_001170331	NP_001163802	Q6ZV70	LANC3_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 3 (bacterial) (LANCL3), transcript variant 2, mRNA.	68							catalytic activity			lung(4)|pancreas(1)	5						GCTTTATGGCGGCGTGGCCGG	0.711												
MORC4	79710	broad.mit.edu	37	X	106221358	106221358	+	Missense_Mutation	SNP	A	A	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chrX:106221358A>T	uc004emu.4	-	7	1283	c.1008T>A	c.(1006-1008)caT>caA	p.H336Q	MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Missense_Mutation_p.H336Q|MORC4_uc004emw.4_Missense_Mutation_p.H84Q	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	336							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GTCGGTTGTTATGATACATCA	0.393												
THOC2	57187	broad.mit.edu	37	X	122756613	122756613	+	Missense_Mutation	SNP	T	T	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chrX:122756613T>A	uc004etu.3	-	29	3813	c.3781A>T	c.(3781-3783)Aac>Tac	p.N1261Y	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_Missense_Mutation_p.N82Y	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1261					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCCTACCTGTTAGAGCCACTA	0.373												
WASH6P	653440	broad.mit.edu	37	X	155254735	155254735	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chrX:155254735C>G	uc022cip.1	+	5	835	c.631C>G	c.(631-633)Ctc>Gtc	p.L211V						RecName: Full=WAS protein family homolog 6; AltName: Full=Protein FAM39A;									p.L425V(1)									GATGTCGGATCTCTTCAACAA	0.587