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
abParts	0	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	G	G	rs1054157	by1000genomes	TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr22:22663086T>G	uc021wml.1	+	30		c.2444T>G			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AGCTGCCACATAAGTTGTCCT	0.299000														53			5		0	0	0.217242	0	0
EYA1	2138	broad.mit.edu	37	8	72233985	72233985	+	Silent	SNP	G	A	A			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr8:72233985G>A	uc003xyu.3	-	5	1042	c.402C>T	c.(400-402)taC>taT	p.Y134Y	EYA1_uc003xyt.4_Silent_p.Y101Y|EYA1_uc003xyr.4_Silent_p.Y134Y|EYA1_uc010lzf.3_Silent_p.Y61Y|EYA1_uc003xys.4_Silent_p.Y134Y|EYA1_uc011lfe.2_Silent_p.Y133Y|EYA1_uc003xyv.3_Silent_p.Y17Y	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	134					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AGGAAATGCCGTACGGCTGTC	0.483000														166			4		0	0	0.184627	0	0
MYH11	4629	broad.mit.edu	37	16	15826509	15826509	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr16:15826509C>T	uc002ddx.3	-	27	3691	c.3584G>A	c.(3583-3585)cGg>cAg	p.R1195Q	MYH11_uc002ddv.3_Missense_Mutation_p.R1195Q|MYH11_uc002ddw.3_Missense_Mutation_p.R1188Q|MYH11_uc002ddy.3_Missense_Mutation_p.R1188Q|MYH11_uc010bvg.3_Missense_Mutation_p.R1020Q	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1188					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTCATGGGACCGCGTCTCTTC	0.572000			T	CBFB	AML									96			68		0	0	0.870114	0	0
PRX	57716	broad.mit.edu	37	19	40899883	40899883	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr19:40899883G>A	uc002onr.3	-	6	4645	c.4376C>T	c.(4375-4377)gCg>gTg	p.A1459V	PRX_uc002onq.3_Missense_Mutation_p.A1320V|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1459					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCAGACAGCCGCAGCCTGAGC	0.617000														127			4		0	0	0.217242	0	0
DENND5B	160518	broad.mit.edu	37	12	31604932	31604932	+	Missense_Mutation	SNP	G	T	T			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr12:31604932G>T	uc001rkh.1	-	6	1827	c.1676C>A	c.(1675-1677)aCt>aAt	p.T559N	DENND5B_uc001rki.1_Missense_Mutation_p.T524N|DENND5B_uc001rkj.3_Missense_Mutation_p.T546N|DENND5B_uc001rkk.1_Missense_Mutation_p.T446N	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	524	dDENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTCCTGGGCAGTCTGAATGAC	0.443000														61			3		0.115264	0.141198	0.115264	1	0
CLCN3	1182	broad.mit.edu	37	4	170618538	170618538	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr4:170618538T>C	uc003ish.3	+	8	1775	c.1216T>C	c.(1216-1218)Ttt>Ctt	p.F406L	CLCN3_uc003isi.3_Missense_Mutation_p.F406L|CLCN3_uc011cka.2_Missense_Mutation_p.F379L|CLCN3_uc011cjz.2_Missense_Mutation_p.F389L|CLCN3_uc003isj.2_Missense_Mutation_p.F379L	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	406					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TTGGGGAGCCTTTTTCATTAG	0.438000														165			3		0	0	0.115264	0	0
NPHP1	4867	broad.mit.edu	37	2	110905497	110905497	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr2:110905497C>T	uc002tfn.4	-	12	1524	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	NPHP1_uc002tfm.4_Missense_Mutation_p.R422H|NPHP1_uc002tfl.4_Missense_Mutation_p.R478H|NPHP1_uc002tfo.4_Missense_Mutation_p.R359H|NPHP1_uc010ywx.2_Missense_Mutation_p.R421H|NPHP1_uc010fjv.1_Missense_Mutation_p.R421H	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	477					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						ACATACATTGCGAATATAAGA	0.343000														53			35		0	0	0.796494	0	0
SALL3	27164	broad.mit.edu	37	18	76755190	76755190	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr18:76755190G>A	uc002lmt.3	+	1	3199	c.3199G>A	c.(3199-3201)Ggt>Agt	p.G1067S	SALL3_uc010dra.3_Missense_Mutation_p.G602S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1067					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGAAGTGAACGGTCACGGCAA	0.652000														51			34		0	0	0.788014	0	0
GALNTL2	117248	broad.mit.edu	37	3	16216757	16216757	+	Silent	SNP	G	A	A			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr3:16216757G>A	uc003car.4	+	0	574	c.99G>A	c.(97-99)ttG>ttA	p.L33L	GALNTL2_uc003caq.4_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	33						Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						TGGCGATGTTGCACCCTCCCC	0.587000														230			5		0	0	0.217242	0	0
MECP2	4204	broad.mit.edu	37	X	153297780	153297780	+	Silent	SNP	G	A	A			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chrX:153297780G>A	uc004fjv.2	-	2	481	c.255C>T	c.(253-255)cgC>cgT	p.R85R	MECP2_uc004fjw.2_Silent_p.R97R	NM_004992	NP_004983	P51608	MECP2_HUMAN	Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 1, mRNA.	85					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity	p.R84W(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGATGATGGAGCGCCGCTGTT	0.622000														218			4		0	0	0.150653	0	0
CGB8	94115	broad.mit.edu	37	19	49558229	49558229	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr19:49558229T>C	uc002pmd.3	-	1	1272	c.52A>G	c.(52-54)Aca>Gca	p.T18A	CGB8_uc002pmc.3_Intron|CGB8_uc002pme.3_Missense_Mutation_p.T18A	NM_033142	NP_149133	P01233	CGHB_HUMAN	Homo sapiens chorionic gonadotropin, beta polypeptide 7 (CGB7), mRNA.	18			T -> A.		apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	p.T18A(1)		pancreas(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	GATGCCCATGTCCCGCCCATG	0.657000														123			3		0	0	0.248553	0	0
ZNF98	148198	broad.mit.edu	37	19	22574657	22574657	+	Silent	SNP	T	C	C			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr19:22574657T>C	uc002nqt.2	-	3	1502	c.1380A>G	c.(1378-1380)aaA>aaG	p.K460K		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ATTTGTAGGGTTTCTCTCCAG	0.373000														58			3		0	0	0.150653	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43204776	43204776	+	Silent	SNP	A	C	C			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr22:43204776A>C	uc003bdd.2	-	12	1537	c.1317T>G	c.(1315-1317)gcT>gcG	p.A439A	ARFGAP3_uc010gzf.2_Silent_p.A395A	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	439					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|cytosol	ARF GTPase activator activity|protein transporter activity|zinc ion binding	p.Q438K(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CCCTTACATCAGCCTGGGATT	0.488000														111			61		0	0	0.870114	0	0
ADIPOR2	79602	broad.mit.edu	37	12	1890190	1890190	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr12:1890190A>G	uc001qjm.3	+	5	983	c.786A>G	c.(784-786)atA>atG	p.I262M	ADIPOR2_uc001qjn.3_Missense_Mutation_p.I262M	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	Homo sapiens adiponectin receptor 2 (ADIPOR2), mRNA.	262					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			CAGCCATTATAGTCTCCCAGT	0.443000														150			3		0	0	0.115264	0	0
HRCT1	646962	broad.mit.edu	37	9	35906559	35906559	+	Missense_Mutation	SNP	A	C	C			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr9:35906559A>C	uc003zyr.1	+	0	371	c.275A>C	c.(274-276)cAc>cCc	p.H92P	LOC158376_uc003zys.1_5'Flank	NM_001039792	NP_001034881	Q6UXD1	HRCT1_HUMAN	Homo sapiens histidine rich carboxyl terminus 1 (HRCT1), mRNA.	92	His-rich.					integral to membrane		p.H92P(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccaccacccccgccac	0.682000														16			6		0	0	0.539581	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19413033	19413033	+	RNA	SNP	G	A	A			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr13:19413033G>A	uc010tcj.1	-	0		c.33077C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GCACATCCATGCACTAAAAAG	0.294000														6			3		0	0	0.115264	0	0
FBLN1	2192	broad.mit.edu	37	22	45914606	45914606	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr22:45914606C>T	uc010gzz.3	+	1	271	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	FBLN1_uc003bgg.1_Missense_Mutation_p.R42W|FBLN1_uc003bgh.3_Missense_Mutation_p.R42W|FBLN1_uc003bgi.1_Missense_Mutation_p.R42W|FBLN1_uc003bgj.1_Missense_Mutation_p.R42W	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	42	Anaphylatoxin-like 1.			HR -> SH (in Ref. 8; AA sequence).	interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGACGGACACCGGATGGCCAC	0.582000														20			20		0	0	0.654019	0	0
VASN	114990	broad.mit.edu	37	16	4431310	4431310	+	Silent	SNP	C	T	T			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr16:4431310C>T	uc021tch.1	+	0	432	c.432C>T	c.(430-432)ttC>ttT	p.F144F	CORO7-PAM16_uc002cwe.3_Intron|CORO7-PAM16_uc002cwf.3_Intron|CORO7-PAM16_uc002cwg.4_Intron|CORO7-PAM16_uc002cwh.4_Intron|CORO7-PAM16_uc010uxh.2_Intron|CORO7-PAM16_uc010uxi.2_Intron|CORO7-PAM16_uc002cwi.1_Intron|CORO7-PAM16_uc010uxj.1_Intron|CORO7-PAM16_uc010btp.1_Intron|VASN_uc002cwj.1_Silent_p.F144F	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN	Homo sapiens vasorin (VASN), mRNA.	144				Missing (in Ref. 2; AAQ88665).		extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						CTGGTGCCTTCGACACGCTCG	0.677000														21			15		0	0	0.520397	0	0
TREX2	11219	broad.mit.edu	37	X	152710664	152710664	+	Silent	SNP	G	A	A			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chrX:152710664G>A	uc022chv.1	-	0	225	c.225C>T	c.(223-225)agC>agT	p.S75S	TREX2_uc010nud.2_Silent_p.S75S|TREX2_uc011myp.2_Silent_p.S75S|TREX2_uc010nue.2_Silent_p.S117S|HAUS7_uc004fhl.3_Non-coding_Transcript|HAUS7_uc004fhm.3_Non-coding_Transcript	NM_080701	NP_542432	Q9BQ50	TREX2_HUMAN	Homo sapiens three prime repair exonuclease 2 (TREX2), mRNA.	118					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGTGATCTCGCTGGCCTTGG	0.682000								Editing and processing nucleases						53			3		0	0	0.150653	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr2:207025358A>G	uc002vbg.1	+	2	239	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Missense_Mutation_p.S43G|EEF1B2_uc002vbh.1_Missense_Mutation_p.S43G|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(8)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000														154			5		0	0	0.184627	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221921	118221921	+	Missense_Mutation	SNP	G	C	C			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chrX:118221921G>C	uc004era.4	-	10	3272	c.3272C>G	c.(3271-3273)aCc>aGc	p.T1091S		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1091										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AAATTTAGGGGTCACCCATGG	0.493000														160			118		0	0	0.870114	0	0
DAPP1	27071	broad.mit.edu	37	4	100774447	100774447	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr4:100774447T>C	uc003hvf.4	+	3	521	c.431T>C	c.(430-432)gTt>gCt	p.V144A	DAPP1_uc011cek.2_Intron|DAPP1_uc010ilh.3_Missense_Mutation_p.V144A	NM_014395	NP_055210	Q9UN19	DAPP1_HUMAN	Homo sapiens dual adaptor of phosphotyrosine and 3-phosphoinositides (DAPP1), mRNA.	144					signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity	p.R143R(1)		endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		TCTGTCCGGGTTCACACAGCA	0.448000														23			9		0	0	0.335167	0	0
ZFPM2	23414	broad.mit.edu	37	8	106801107	106801107	+	Missense_Mutation	SNP	C	A	A			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr8:106801107C>A	uc003ymd.3	+	5	717	c.694C>A	c.(694-696)Cag>Aag	p.Q232K	ZFPM2_uc011lhs.2_5'UTR	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	232					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GCTGCTTCCTCAGCAAGCTGC	0.498000														22			108		1.04646e-50	1.38586e-50	0.870114	1	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	A	A			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr2:207025366G>A	uc002vbg.1	+	2	247	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Silent_p.P45P|EEF1B2_uc002vbh.1_Silent_p.P45P|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(10)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000														157			5		0	0	0.184627	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19413025	19413025	+	RNA	SNP	A	G	G			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr13:19413025A>G	uc010tcj.1	-	0		c.33085T>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AATAACCTGCACATCCATGCA	0.299000														10			3		0	0	0.115264	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	G	G	rs144273946	by1000genomes	TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr3:197348674A>G	uc011bug.2	-	3		c.417T>C			LOC220729_uc003fxy.3_Non-coding_Transcript|LOC220729_uc010iao.2_Intron					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene (LOC220729), non-coding RNA.																		GGCTCTGTCCACCAAATGCAC	0.478000														156			3		0	0	0.115264	0	0
CDC7	8317	broad.mit.edu	37	1	91967356	91967356	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr1:91967356T>A	uc001doe.3	+	1	248	c.83T>A	c.(82-84)tTa>tAa	p.L28*	CDC7_uc001dof.3_Nonsense_Mutation_p.L28*|CDC7_uc010osw.2_Nonsense_Mutation_p.L28*|CDC7_uc009wdc.3_Nonsense_Mutation_p.L28*	NM_003503	NP_003494	O00311	CDC7_HUMAN	Homo sapiens cell division cycle 7 homolog (S. cerevisiae) (CDC7), transcript variant 1, mRNA.	28					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint|cell division|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GAAGGCTCTTTAAAAAAAAAC	0.403000														120			4		0	0	0.150653	0	0
CD22	933	broad.mit.edu	37	19	35827206	35827206	+	Missense_Mutation	SNP	A	T	T			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr19:35827206A>T	uc010edt.3	+	3	764	c.680A>T	c.(679-681)aAg>aTg	p.K227M	CD22_uc010edu.3_Missense_Mutation_p.K227M|CD22_uc010edv.3_Missense_Mutation_p.K227M|CD22_uc002nzb.4_Missense_Mutation_p.K227M|CD22_uc010xst.2_Missense_Mutation_p.K55M|CD22_uc010edx.3_5'Flank	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	227	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)	GCAGATGGGAAGTTCCTCTCC	0.582000														51			37		0	0	0.870114	0	0
SEPT6	23157	broad.mit.edu	37	X	118783980	118783980	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chrX:118783980C>T	uc004erv.3	-	4	875	c.610G>A	c.(610-612)Gag>Aag	p.E204K	SEPT6_uc010nqk.3_Non-coding_Transcript|SEPT6_uc004ers.3_Missense_Mutation_p.E204K|SEPT6_uc004ert.3_Missense_Mutation_p.E204K|SEPT6_uc004eru.3_Missense_Mutation_p.E204K|SEPT6_uc004erw.3_Missense_Mutation_p.E146K|SEPT6_uc011mtv.1_Missense_Mutation_p.E146K|SEPT6_uc011mtw.1_Missense_Mutation_p.E234K	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	Homo sapiens septin 6 (SEPT6), transcript variant II, mRNA.	204					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CTGACAAGCTCGCTGGTGATT	0.473000			T	MLL	AML									161			108		0	0	0.870114	0	0
ZNF827	152485	broad.mit.edu	37	4	146686225	146686225	+	Missense_Mutation	SNP	A	C	C			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr4:146686225A>C	uc003ikn.3	-	12	3193	c.3145T>G	c.(3145-3147)Tgt>Ggt	p.C1049G	ZNF827_uc003ikm.3_Missense_Mutation_p.C1049G|ZNF827_uc010iox.3_Missense_Mutation_p.C699G|ZNF827_uc003ikl.3_Missense_Mutation_p.C134G	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	1049					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CACACATCACACTCAAACATC	0.493000														109			60		0	0	0.870114	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140768251	140768251	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr5:140768251C>T	uc003lkc.2	+	0	800	c.800C>T	c.(799-801)aCg>aTg	p.T267M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	267	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGACTGCCACGGACCAGGAT	0.498000														121			85		0	0	0.870114	0	0
DSCAM	1826	broad.mit.edu	37	21	41648146	41648146	+	Missense_Mutation	SNP	A	G	G			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr21:41648146A>G	uc002yyq.1	-	10	2686	c.2234T>C	c.(2233-2235)gTt>gCt	p.V745A	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.	745	Ig-like C2-type 8.				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)				ATTGCTGAGAACTTGGATTCG	0.512000														41			31		0	0	0.760397	0	0
SCN2A	6326	broad.mit.edu	37	2	166246020	166246020	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr2:166246020C>T	uc002udc.3	+	26	5994	c.5704C>T	c.(5704-5706)Cgc>Tgc	p.R1902C	SCN2A_uc002udd.3_Missense_Mutation_p.R1902C|SCN2A_uc002ude.3_Missense_Mutation_p.R1902C|SCN2A_uc021vry.1_Missense_Mutation_p.R402C	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1902			R -> T (associated with autism).		myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CACGTTGAAACGCAAACAAGA	0.433000														34			15		0	0	0.500413	0	0
BPIFB4	149954	broad.mit.edu	37	20	31690787	31690787	+	Silent	SNP	C	G	G			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr20:31690787C>G	uc010zue.2	+	12	1662	c.1647C>G	c.(1645-1647)ctC>ctG	p.L549L		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	549						cytoplasm|extracellular region	lipid binding										GGACCAGCCTCAACCTCAGAA	0.498000														207			3		0	0	0.184627	0	0
RPTN	126638	broad.mit.edu	37	1	152127845	152127848	+	Frame_Shift_Del	DEL	TGTC	-	-			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr1:152127845_152127848delTGTC	uc001ezs.1	-	2	1792_1795	c.1727_1730delGACA	c.(1726-1731)agacaafs	p.R576fs		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	576	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						ACTCTGGCCTTGTCTGTCTGTCTG	0.466													---	1039	---	---	8	---					
NKTR	4820	broad.mit.edu	37	3	42679035	42679036	+	Frame_Shift_Ins	INS	-	C	C			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr3:42679035_42679036insC	uc003clo.3	+	12	1986_1987	c.1839_1840insC	c.(1837-1842)agtcccfs	p.S613fs	NKTR_uc003clm.1_Frame_Shift_Ins_p.S360fs|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Frame_Shift_Ins_p.S360fs|NKTR_uc003clq.1_Frame_Shift_Ins_p.S503fs|NKTR_uc003clr.1_Frame_Shift_Ins_p.S360fs|NKTR_uc003cls.3_Frame_Shift_Ins_p.S313fs	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	613					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGAGTGACAGTCCCCCCCCTTC	0.421													---	376	---	---	7	---					
COL12A1	1303	broad.mit.edu	37	6	75899298	75899298	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr6:75899298delT	uc021zbv.1	-	4	663	c.628delA	c.(628-630)attfs	p.I210fs	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Frame_Shift_Del_p.I210fs|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_5'Flank	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	210	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTATATGGAATTTTTTTTATT	0.323													---	176	---	---	7	---					
ZNF704	619279	broad.mit.edu	37	8	81733778	81733778	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr8:81733778delT	uc003yby.2	-	1	284	c.52delA	c.(52-54)atgfs	p.M18fs		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	Homo sapiens zinc finger protein 704 (ZNF704), mRNA.	18						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TGATGAGACATTTTTTTACCA	0.423													---	1587	---	---	9	---					
UBR5	51366	broad.mit.edu	37	8	103289349	103289349	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr8:103289349delT	uc003ykr.2	-	44	6815	c.6360delA	c.(6358-6360)aaafs	p.K2120fs	UBR5_uc003yks.2_Frame_Shift_Del_p.K2120fs	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2120					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.E2121fs*28(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTCCCCTTCTTTTTTTTGCC	0.378													---	616	---	---	10	---					
DUSP8	1850	broad.mit.edu	37	11	1586978	1586979	+	Frame_Shift_Ins	INS	-	C	C			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr11:1586978_1586979insC	uc001lts.2	-	1	206_207	c.78_79insG	c.(76-81)gggccgfs	p.G26fs	MOB2_uc001ltq.2_Intron	NM_004420	NP_004411	Q13202	DUS8_HUMAN	Homo sapiens dual specificity phosphatase 8 (DUSP8), mRNA.	26	Rhodanese.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.G25G(1)		endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		ATGACCAGCGGCCCCCCAGGCC	0.663													---	358	---	---	7	---					
KSR1	8844	broad.mit.edu	37	17	25910015	25910016	+	Frame_Shift_Ins	INS	-	C	C			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr17:25910015_25910016insC	uc010crg.3	+	4	898_899	c.453_454insC	c.(451-456)acgcccfs	p.T151fs	KSR1_uc002gzj.1_Non-coding_Transcript	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	286					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P292fs*22(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CACCACGGACGCCCCCCCCACC	0.678													---	26	---	---	8	---					
PMEPA1	56937	broad.mit.edu	37	20	56227348	56227349	+	Frame_Shift_Ins	INS	-	G	G			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr20:56227348_56227349insG	uc002xyq.3	-	3	1017_1018	c.624_625insC	c.(622-627)cccagcfs	p.P208fs	PMEPA1_uc002xyr.3_Frame_Shift_Ins_p.P158fs|PMEPA1_uc002xys.3_Frame_Shift_Ins_p.P173fs|PMEPA1_uc002xyt.3_Frame_Shift_Ins_p.P158fs	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	208					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GAGTTACTGCTGGGGGGGCAGG	0.683													---	130	---	---	7	---					
SREBF2	6721	broad.mit.edu	37	22	42262949	42262951	+	In_Frame_Del	DEL	GCA	-	-			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr22:42262949_42262951delGCA	uc003bbi.3	+	1	372_374	c.203_205delGCA	c.(202-207)ggcagc>ggc	p.S74del	bK250D10.C22.8_uc003bba.1_Intron	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	74	Gly/Pro/Ser-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ggcagcagtggcagcagcagcag	0.567													---	116	---	---	8	---					
TCF20	6942	broad.mit.edu	37	22	42610776	42610778	+	In_Frame_Del	DEL	TGC	-	-			TCGA-FR-A2OS-01A-11D-A21A-08	TCGA-FR-A2OS-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce829e3d-a0cd-40f6-9974-426eb4085f4f	9b315eb9-416e-4ee3-87dd-f7057c6ef2d1	g.chr22:42610776_42610778delTGC	uc003bcj.1	-	0	668_670	c.534_536delGCA	c.(532-537)cagcaa>caa	p.178_179QQ>Q	TCF20_uc003bck.1_In_Frame_Del_p.178_179QQ>Q	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	178	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTGGACTTGCTGCTGCTGCT	0.571													---	179	---	---	7	---					
