Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SLC26A1	10861	broad.mit.edu	37	4	982659	982659	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:982659G>A	uc003gcb.3	-	3	2446	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C	SLC26A1_uc003gbx.3_Intron|IDUA_uc003gby.3_Intron|IDUA_uc003gbz.3_Intron|IDUA_uc003gca.3_Intron|SLC26A1_uc003gcc.3_Missense_Mutation_p.R690C	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 1 (SLC26A1), transcript variant 3, mRNA.	690						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity	p.R690R(1)		central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCCCTGTGGCGGGCTCGTGCT	0.677000													3	23					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117860	117860	+	RNA	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrGL000205.1:117860G>A	uc002kgk.4	+	0		c.1238G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAACGACTGCGTCTTCTTGCA	0.512000													12	201					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296282	39296282	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:39296282G>T	uc010cxk.2	-	0	458	c.458C>A	c.(457-459)tCt>tAt	p.S153Y		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	149	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ttcacagcaagaggggcggca	0.662000													6	262					0	0	1	0	0
DHRS7B	25979	broad.mit.edu	37	17	21075510	21075510	+	Splice_Site	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:21075510G>T	uc002gyo.3	+	2	243	c.199_splice	c.e2+1	p.E67_splice	DHRS7B_uc010crc.1_Missense_Mutation_p.G52V	NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7B (DHRS7B), mRNA.	67						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						CTGGGCAAAGGTGGGTCCTGG	0.677000													16	0					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72956730	72956730	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:72956730C>G	uc001sxa.3	+	8	1847	c.1817C>G	c.(1816-1818)aCa>aGa	p.T606R		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	606					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTGGGAAACACAACAGCAGAA	0.328000													32	35					0	0	1	0	0
HDAC10	83933	broad.mit.edu	37	22	50686488	50686488	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr22:50686488C>A	uc003bkg.3	-	12	1541	c.1168G>T	c.(1168-1170)Gca>Tca	p.A390S	HDAC10_uc010hav.3_Missense_Mutation_p.A370S|HDAC10_uc003bkh.3_Missense_Mutation_p.A183S|HDAC10_uc003bkj.3_Non-coding_Transcript|HDAC10_uc003bkk.1_Missense_Mutation_p.A24S	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA.	390					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GATGCAGCTGCCTTACACACT	0.652000													6	58					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111650901	111650901	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:111650901T>G	uc003puy.4	-	24	8416	c.8075A>C	c.(8074-8076)gAa>gCa	p.E2692A	REV3L_uc003pux.4_Missense_Mutation_p.E2614A|REV3L_uc003puz.4_Missense_Mutation_p.E2614A|REV3L_uc003pva.1_Non-coding_Transcript	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	2692					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCAAAATTTCTTCAAGCAT	0.363000								DNA polymerases (catalytic subunits)					27	28					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226378110	226378110	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:226378110G>T	uc002voe.2	+	2	420	c.245G>T	c.(244-246)gGc>gTc	p.G82V	NYAP2_uc010fxa.1_Intron	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	82																	GTAGGGCGAGGCCACGAAGGA	0.463000													17	37					0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113588102	113588102	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:113588102C>A	uc002tii.1	-	6	733	c.646G>T	c.(646-648)Gtc>Ttc	p.V216F	IL1B_uc002tih.1_Missense_Mutation_p.V185F	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	216					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	TTGTTGAAGACAAATCGCTTT	0.423000													5	89					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	621243	621243	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:621243G>A	uc001lql.3	-	6	893	c.626C>T	c.(625-627)cCg>cTg	p.P209L	CDHR5_uc001lqj.3_Missense_Mutation_p.P209L|CDHR5_uc009ycd.3_Missense_Mutation_p.P209L|CDHR5_uc001lqk.3_Missense_Mutation_p.P209L|CDHR5_uc009ycc.3_Missense_Mutation_p.P43L|CDHR5_uc001lqm.2_Missense_Mutation_p.P43L|CDHR5_uc009yce.1_Missense_Mutation_p.P178L	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	209	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ATTCTCCCCCGGAGTGTCCTG	0.682000													20	43					0	0	1	0	0
PLCXD1	55344	broad.mit.edu	37	X	215882	215882	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:215882C>T	uc004cpc.3	+	6	1164	c.852C>T	c.(850-852)gtC>gtT	p.V284V	PLCXD1_uc011mgx.2_Non-coding_Transcript	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 1 (PLCXD1), transcript variant 1, mRNA.	284					intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGCGTGGGTCCGAGAGCAGT	0.647000													9	74					0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988736	154988736	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:154988736G>C	uc001fgj.4	+	5	1582	c.1297G>C	c.(1297-1299)Gag>Cag	p.E433Q	ZBTB7B_uc009wpa.3_Missense_Mutation_p.E399Q|ZBTB7B_uc001fgk.4_Missense_Mutation_p.E399Q|ZBTB7B_uc010peq.2_Missense_Mutation_p.E433Q|ZBTB7B_uc001fgl.4_Missense_Mutation_p.E399Q	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	399					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCACACGGGAGAGCGCCCCTA	0.632000													49	77					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113318340	113318340	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:113318340T>C	uc003ynu.3	-	50	8126	c.7967A>G	c.(7966-7968)tAt>tGt	p.Y2656C	CSMD3_uc003yns.3_Missense_Mutation_p.Y1858C|CSMD3_uc003ynt.3_Missense_Mutation_p.Y2616C|CSMD3_uc011lhx.2_Missense_Mutation_p.Y2552C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2656	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTACAAAAATAGGTAACTCG	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	35					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058814	9058814	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:9058814T>A	uc002mkp.3	-	2	28836	c.28632A>T	c.(28630-28632)aaA>aaT	p.K9544N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9546	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGATATCACTTTTGTTGGCT	0.458000													20	19					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445496	10445496	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:10445496C>T	uc003gmn.3	-	2	2944	c.2457G>A	c.(2455-2457)gcG>gcA	p.A819A	ZNF518B_uc021xme.1_Silent_p.A819A	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AGTCTGAGTCCGCCTGTCTCA	0.468000													18	73					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5941713	5941713	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:5941713C>G	uc001qnm.2	-	4	750	c.678G>C	c.(676-678)caG>caC	p.Q226H	ANO2_uc021qtt.1_Missense_Mutation_p.Q230H	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	231						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGCTCAGCTTCTGCAGAGCCG	0.522000													14	36					0	0	1	0	0
MAD1L1	8379	broad.mit.edu	37	7	1997278	1997278	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:1997278G>C	uc003slh.1	-	15	1848	c.1582C>G	c.(1582-1584)Cgg>Ggg	p.R528G	MAD1L1_uc003sle.1_Missense_Mutation_p.R257G|MAD1L1_uc003slf.1_Missense_Mutation_p.R528G|MAD1L1_uc003slg.1_Missense_Mutation_p.R528G|MAD1L1_uc010ksh.1_Missense_Mutation_p.R528G|MAD1L1_uc003sli.1_Missense_Mutation_p.R436G|MAD1L1_uc010ksi.1_Missense_Mutation_p.R481G|MAD1L1_uc010ksj.3_Missense_Mutation_p.R528G	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	528	Necessary for interaction with NEK2.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		AGAGCTCGCCGCTCCAGCTGT	0.637000													10	83					0	0	1	0	0
POMT1	10585	broad.mit.edu	37	9	134379641	134379641	+	Silent	SNP	G	G	C	rs138334962	by1000genomes	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:134379641G>C	uc004cav.3	+	1	238	c.36G>C	c.(34-36)acG>acC	p.T12T	POMT1_uc011mci.1_Silent_p.T12T|POMT1_uc004cax.3_Silent_p.T12T|POMT1_uc011mcj.2_Intron|POMT1_uc004cau.3_Silent_p.T12T|POMT1_uc004caw.3_Intron|POMT1_uc011mck.2_Intron|POMT1_uc011mcl.2_Intron|POMT1_uc011mcm.2_Silent_p.T12T	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	12					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TAGTGGTGACGGCTGACATCA	0.577000											OREG0019563	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	5					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153312868	153312868	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:153312868G>T	uc001fbo.3	-	6	878	c.813C>A	c.(811-813)gaC>gaA	p.D271E	PGLYRP4_uc001fbp.3_Missense_Mutation_p.D267E	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	271					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.D271N(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TATAACCAATGTCGCATGACT	0.502000													36	63					0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47360082	47360082	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:47360082A>T	uc021qis.1	-	22	2352	c.2297T>A	c.(2296-2298)gTc>gAc	p.V766D	MYBPC3_uc021qir.1_Missense_Mutation_p.V418D|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	765	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GATGACCTTGACTGTGAGGTT	0.617000													9	64					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70575650	70575650	+	Silent	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr16:70575650A>G	uc002ezf.3	+	8	1357	c.1146A>G	c.(1144-1146)ggA>ggG	p.G382G		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	382					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGGAAGAAGGAGACACATTCT	0.448000													4	109					0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103547200	103547200	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr10:103547200C>G	uc001ktv.2	-	14	2978	c.2535G>C	c.(2533-2535)atG>atC	p.M845I	MGEA5_uc001ktu.2_Non-coding_Transcript|MGEA5_uc010qqe.1_Missense_Mutation_p.M792I|MGEA5_uc009xws.2_Missense_Mutation_p.M778I	NM_012215	NP_036347	O60502	NCOAT_HUMAN	Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.	845	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TGTGAATGTCCATCTTTATCA	0.393000													45	4					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34018592	34018592	+	Silent	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr15:34018592C>A	uc001zhi.3	+	45	6988	c.6918C>A	c.(6916-6918)atC>atA	p.I2306I	RYR3_uc010bar.3_Silent_p.I2306I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2306	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCAGCTCATCCAGACAGGAA	0.547000													6	6					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr22:22664141G>A	uc021wml.1	+	31		c.2583G>A			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AAATTTGAAGGTGCTGTGATT	0.448000													5	87					0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104086318	104086318	+	Silent	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:104086318G>A	uc004bbb.3	+	7	1356	c.957G>A	c.(955-957)gcG>gcA	p.A319A	LPPR1_uc011lvi.2_Silent_p.A295A|LPPR1_uc004bbc.3_Silent_p.A319A|LPPR1_uc010mtc.3_Silent_p.A303A	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	319						integral to membrane	catalytic activity										ATCACTCTGCGTCCATGACCG	0.413000													6	12					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121739545	121739545	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:121739545C>A	uc003idn.3	-	4	863	c.613G>T	c.(613-615)Ggg>Tgg	p.G205W	PRDM5_uc003ido.3_Missense_Mutation_p.G205W|PRDM5_uc010ine.3_Missense_Mutation_p.G205W|PRDM5_uc010inf.3_Missense_Mutation_p.G205W	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	205					histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AATTTCTTCCCACAGTTCTTG	0.373000													9	17					0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49228098	49228098	+	Silent	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:49228098G>A	uc002pki.3	-	8	2444	c.2247C>T	c.(2245-2247)ggC>ggT	p.G749G	RASIP1_uc002pkh.3_Silent_p.G10G	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	749	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCTGGAACACGCCCAGGGTAG	0.612000													38	87					0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97274353	97274353	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:97274353C>T	uc002swn.4	-	13	1779	c.1633G>A	c.(1633-1635)Gtg>Atg	p.V545M	KANSL3_uc002swh.4_Missense_Mutation_p.V433M|KANSL3_uc002swi.4_Missense_Mutation_p.V446M|KANSL3_uc002swj.4_Non-coding_Transcript|KANSL3_uc002swk.4_Missense_Mutation_p.V458M|KANSL3_uc010fhz.3_Missense_Mutation_p.V339M|KANSL3_uc002swl.4_Missense_Mutation_p.V446M|KANSL3_uc002swm.4_Non-coding_Transcript|KANSL3_uc010yur.2_Missense_Mutation_p.V339M|KANSL3_uc002swp.1_Missense_Mutation_p.V446M	NM_001115016	NP_060461	Q9P2N6	K1310_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 3 (KANSL3), transcript variant 1, mRNA.	545																	ACTGTGGTCACTTTGGTCTTG	0.522000													14	61					0	0	1	0	0
FAM186B	84070	broad.mit.edu	37	12	49999203	49999203	+	Silent	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:49999203G>A	uc001ruo.3	-	0	231	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	FAM186B_uc010smk.2_5'UTR	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	Homo sapiens family with sequence similarity 186, member B (FAM186B), transcript variant 1, mRNA.	20						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAATCCTCAGGATGATGGCT	0.517000													10	22					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55142223	55142223	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:55142223C>A	uc003pcl.3	+	4	1123	c.808C>A	c.(808-810)Cag>Aag	p.Q270K	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	270					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GAAGCCCCTGCAGCCTGTTTC	0.507000													14	47					0	0	1	0	0
AFTPH	54812	broad.mit.edu	37	2	64780209	64780209	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:64780209G>T	uc002sdc.3	+	0	1633	c.1601G>T	c.(1600-1602)gGt>gTt	p.G534V	AFTPH_uc002scz.3_Missense_Mutation_p.G534V|AFTPH_uc002sda.3_Missense_Mutation_p.G534V|AFTPH_uc002sdb.3_Missense_Mutation_p.G534V	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA.	534					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GGGCAAGAAGGTGAGATTGGA	0.388000													13	45					0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96880650	96880650	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr15:96880650C>T	uc010uri.2	+	2	2268	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	NR2F2_uc002btp.3_Silent_p.Y215Y|NR2F2_uc010urj.2_Silent_p.Y195Y|NR2F2_uc010urk.2_Silent_p.Y195Y	NM_021005	NP_001138629	P24468	COT2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA.	348	Important for dimerization.|Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TGGAAGAATACGTTAGGAGCC	0.493000													101	42					0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68305235	68305235	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:68305235C>G	uc001onv.3	+	2	370	c.103C>G	c.(103-105)Cag>Gag	p.Q35E	PPP6R3_uc010rqb.1_Intron|PPP6R3_uc001onw.3_Missense_Mutation_p.Q35E|PPP6R3_uc001ony.4_Missense_Mutation_p.Q35E|PPP6R3_uc001onx.3_Missense_Mutation_p.Q35E|PPP6R3_uc009ysh.3_Missense_Mutation_p.Q35E|PPP6R3_uc001onu.3_Missense_Mutation_p.Q35E|PPP6R3_uc010rqc.2_Intron	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	35					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGATGTTTTACAGGAATGTAA	0.363000													13	31					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413654	68413654	+	RNA	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:68413654G>A	uc004aex.3	+	0		c.209G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		GAGTGCAGACGAGAGCCCCGG	0.642000													4	16					0	0	1	0	0
HOXA4	3201	broad.mit.edu	37	7	27169062	27169062	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:27169062C>T	uc003sym.4	-	1	792	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	HOXA3_uc003syk.3_5'Flank	NM_002141	NP_002132	Q00056	HXA4_HUMAN	Homo sapiens homeobox A4 (HOXA4), mRNA.	249						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I248I(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						AGCGTGTGGGCGATCTCGATG	0.572000													57	60					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70356869	70356869	+	Silent	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:70356869A>G	uc004dyy.3	+	37	5740	c.5541A>G	c.(5539-5541)ccA>ccG	p.P1847P	MED12_uc011mpq.1_Silent_p.P1847P|MED12_uc004dyz.3_Silent_p.P1847P|MED12_uc004dza.3_Silent_p.P1694P|MED12_uc010nla.3_Silent_p.P473P	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1847	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGAACCAGCCACTACCTGCAG	0.567000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						9	12					0	0	1	0	0
NPEPPS	9520	broad.mit.edu	37	17	45689855	45689855	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:45689855G>T	uc002ilr.4	+	17	2348	c.2125G>T	c.(2125-2127)Gtt>Ttt	p.V709F	NPEPPS_uc010wkt.2_Missense_Mutation_p.V705F|NPEPPS_uc010wku.2_Missense_Mutation_p.V673F|NPEPPS_uc010wkv.2_Missense_Mutation_p.V263F|NPEPPS_uc002ils.1_Missense_Mutation_p.V142F	NM_006310	NP_006301	P55786	PSA_HUMAN	Homo sapiens aminopeptidase puromycin sensitive (NPEPPS), mRNA.	709					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GAGGGGCTTGGTTCTGGGAAA	0.428000													13	18					0	0	1	0	0
TMEM81	388730	broad.mit.edu	37	1	205053392	205053392	+	Silent	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:205053392C>G	uc001hbt.3	-	0	197	c.57G>C	c.(55-57)ctG>ctC	p.L19L		NM_203376	NP_976310	Q6P7N7	TMM81_HUMAN	Homo sapiens transmembrane protein 81 (TMEM81), mRNA.	19						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CCACCAAAGGCAGGTAGAAGG	0.522000													36	41					0	0	1	0	0
FAM55C	91775	broad.mit.edu	37	3	101535731	101535731	+	Missense_Mutation	SNP	C	C	T	rs147008534		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:101535731C>T	uc003dvn.3	+	6	1652	c.1015C>T	c.(1015-1017)Cgt>Tgt	p.R339C	FAM55C_uc010hpn.3_Missense_Mutation_p.R339C	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	339						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						GTTTAAGATGCGTCAGTTTAA	0.393000													38	36					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45396744	45396744	+	Silent	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:45396744C>A	uc003jok.3	-	3	1105	c.1080G>T	c.(1078-1080)ggG>ggT	p.G360G		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	360						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGGCTCCATACCCAATGCACA	0.478000													29	95					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45812822	45812822	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:45812822C>G	uc002rus.3	-	4	816	c.740G>C	c.(739-741)cGt>cCt	p.R247P		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	247					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTTTCTATAACGTATAATGAA	0.353000													6	34					0	0	1	0	0
COX18	285521	broad.mit.edu	37	4	73930519	73930519	+	Silent	SNP	G	G	A	rs61741433	byFrequency	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:73930519G>A	uc011cbc.1	-	3	805	c.699C>T	c.(697-699)ggC>ggT	p.G233G	COX18_uc003hgm.1_Silent_p.G232G|COX18_uc003hgn.1_Silent_p.G81G|COX18_uc010iih.1_Silent_p.G232G	NM_173827	NP_776188	Q8N8Q8	COX18_HUMAN	Homo sapiens COX18 cytochrome c oxidase assembly homolog (S. cerevisiae) (COX18), nuclear gene encoding mitochondrial protein, mRNA.	232					protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATTGATGACGCCAACAGAGA	0.408000													4	66					0	0	1	0	0
MAT2A	4144	broad.mit.edu	37	2	85768241	85768241	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:85768241G>C	uc002spr.3	+	1	437	c.127G>C	c.(127-129)Gat>Cat	p.D43H	LOC100630918_uc021vka.1_5'Flank|MAT2A_uc010ysr.2_Missense_Mutation_p.D43H|MAT2A_uc010fgl.2_5'UTR|MAT2A_uc010fgm.1_5'UTR	NM_005911	NP_005902	P31153	METK2_HUMAN	Homo sapiens methionine adenosyltransferase II, alpha (MAT2A), mRNA.	43					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGCTGTCCTTGATGCCCACCT	0.368000													18	77					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131404727	131404727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:131404727G>A	uc011blq.2	-	5	747	c.637C>T	c.(637-639)Cga>Tga	p.R213*	CPNE4_uc003eok.3_Nonsense_Mutation_p.R195*|CPNE4_uc003eol.3_Nonsense_Mutation_p.R213*|CPNE4_uc003eom.3_Nonsense_Mutation_p.R195*	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	195	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ACCTCAGTTCGGTGCACCAGC	0.378000													17	27					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533846	55533846	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:55533846C>A	uc003xsd.1	+	1	468	c.320C>A	c.(319-321)tCc>tAc	p.S107Y	RP1_uc011ldy.1_Missense_Mutation_p.S107Y	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	107	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TACCTATGTTCCCACGGCAGG	0.677000													9	98					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46804949	46804949	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr22:46804949C>G	uc003bhw.1	-	8	5170	c.5170G>C	c.(5170-5172)Gag>Cag	p.E1724Q	CELSR1_uc011arc.1_Missense_Mutation_p.E37Q	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1724	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGCTGTCCTCCTTCCGGGTC	0.642000													46	3					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140772533	140772533	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:140772533G>A	uc004cog.3	+	0	293	c.148G>A	c.(148-150)Gcg>Acg	p.A50T	AK128414_uc004cof.1_Intron|CACNA1B_uc022bqn.1_Missense_Mutation_p.A50T	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	50					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCAATCGATCGCGCAGCGCGC	0.731000													6	10					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639016	179639016	+	Silent	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:179639016G>C	uc021vsy.1	-	29	7200	c.6975C>G	c.(6973-6975)gtC>gtG	p.V2325V	TTN_uc021vsz.1_Silent_p.V2279V|TTN_uc021vta.1_Silent_p.V2279V|TTN_uc021vtb.1_Silent_p.V2279V|TTN_uc002unb.2_Silent_p.V2325V|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2325	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G2324G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACATCCTTGACCGTGAGGT	0.408000													20	52					0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41707232	41707232	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:41707232G>T	uc002opw.3	+	5	986	c.931G>T	c.(931-933)Gtc>Ttc	p.V311F	CYP2S1_uc010xvx.2_Missense_Mutation_p.V36F	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	311					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CAGCACCACGGTCGGCTATAC	0.498000													36	87					0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44660704	44660704	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:44660704G>A	uc002oym.3	+	5	842	c.535G>A	c.(535-537)Gat>Aat	p.D179N	ZNF234_uc002oyl.4_Missense_Mutation_p.D179N	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCATACATGTGATGAGTGTGG	0.388000													35	78					0	0	1	0	0
OR2S2	56656	broad.mit.edu	37	9	35957351	35957351	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:35957351C>G	uc011lpi.2	-	0	801	c.745G>C	c.(745-747)Gtg>Ctg	p.V249L		NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily S, member 2 (OR2S2), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			AAGACGATCACCACGGTGAGG	0.507000													62	47					0	0	1	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72954797	72954797	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr15:72954797T>C	uc010uks.1	+	10	1093	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A	DQ588973_uc021spx.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.	351								p.V351A(8)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGCAGGAGGTGCAGAGAGTG	0.562000													3	7					0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112622580	112622580	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:112622580C>T	uc021reb.1	-	60	10184	c.9788G>A	c.(9787-9789)cGc>cAc	p.R3263H		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CACCAGCAAGCGGCTGTGGGC	0.697000													19	91					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101832029	101832029	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:101832029G>T	uc004azb.1	+	41	4234	c.4028G>T	c.(4027-4029)cGa>cTa	p.R1343L		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	1343	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.R1343*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAAGCATGGCGAACCGCGGAC	0.527000													13	102					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70350051	70350051	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:70350051A>C	uc004dyy.3	+	27	4233	c.4034A>C	c.(4033-4035)aAg>aCg	p.K1345T	MED12_uc011mpq.1_Missense_Mutation_p.K1345T|MED12_uc004dyz.3_Missense_Mutation_p.K1345T|MED12_uc004dza.3_Missense_Mutation_p.K1192T|MED12_uc010nla.3_5'UTR	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1345					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CAGCGCATAAAGCGCATTCTC	0.577000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						6	25					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6692406	6692406	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:6692406G>A	uc001qpo.3	-	25	4182	c.4018C>T	c.(4018-4020)Cgt>Tgt	p.R1340C	CHD4_uc001qpn.3_Missense_Mutation_p.R1333C|CHD4_uc001qpp.3_Missense_Mutation_p.R1337C|AK096395_uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1340					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ACCTGTTTACGGATTCTTTTT	0.562000													69	107					0	0	1	0	0
LETM2	137994	broad.mit.edu	37	8	38260158	38260158	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:38260158C>A	uc003xlm.2	+	6	1191	c.959C>A	c.(958-960)aCg>aAg	p.T320K	LETM2_uc011lbn.2_Missense_Mutation_p.T164K|LETM2_uc003xll.2_Missense_Mutation_p.T272K|LETM2_uc003xln.2_Missense_Mutation_p.T164K|LETM2_uc003xlo.2_Missense_Mutation_p.T164K	NM_001199659	NP_001186588	Q2VYF4	LETM2_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 2 (LETM2), transcript variant 1, mRNA.	367	LETM1.					integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CAACAGCTCACGGAGGCAAGT	0.542000													22	51					0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35540200	35540200	+	Missense_Mutation	SNP	G	G	A	rs149970077	byFrequency	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:35540200G>A	uc002nxq.2	+	3	268	c.23G>A	c.(22-24)cGg>cAg	p.R8Q	HPN_uc002nxr.2_Missense_Mutation_p.R8Q|HPN_uc010xsh.1_5'UTR|HPN_uc002nxt.1_5'Flank	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	8					cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GCAGGTGGCCGGACTGTGCCA	0.672000													31	216					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54558122	54558122	+	Nonsense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:54558122C>G	uc002iun.1	+	15	2078	c.2043C>G	c.(2041-2043)taC>taG	p.Y681*		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	681										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGTTCTTCTACGAGCTCCAGA	0.418000													36	71					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50745263	50745263	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr16:50745263G>C	uc002egm.1	+	3	1546	c.1441G>C	c.(1441-1443)Ggt>Cgt	p.G481R	NOD2_uc021tia.1_Missense_Mutation_p.G313R|NOD2_uc010cbk.1_Missense_Mutation_p.G454R|NOD2_uc002egl.1_Missense_Mutation_p.G259R|NOD2_uc010cbl.1_Missense_Mutation_p.G259R|NOD2_uc010cbm.1_Missense_Mutation_p.G259R|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	481	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGCCCTGCACGGTTTGTGCCA	0.597000													41	65					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198285262	198285262	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:198285262T>G	uc002uue.3	-	3	353	c.305A>C	c.(304-306)gAt>gCt	p.D102A	SF3B1_uc010fsk.1_Non-coding_Transcript|SF3B1_uc002uuf.3_Missense_Mutation_p.D102A|SF3B1_uc002uug.3_Missense_Mutation_p.D102A	NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	102					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGCAAATGGATCATACTGAAA	0.368000			Mis		myelodysplastic syndrome								38	17					0	0	1	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378879	142378879	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:142378879C>A	uc003waa.1	+	1	147	c.147C>A	c.(145-147)gaC>gaA	p.D49E	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TGGGCCATGACAAAATGTACT	0.443000													41	49					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73205322	73205322	+	Missense_Mutation	SNP	G	G	C	rs142264188		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:73205322G>C	uc003hgk.2	-	4	787	c.750C>G	c.(748-750)caC>caG	p.H250Q		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	250					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTCTCCCGCGTGTCTGCGGC	0.502000													6	247					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85577956	85577956	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:85577956C>A	uc002spd.3	-	2	735	c.544G>T	c.(544-546)Gag>Tag	p.E182*	RETSAT_uc010fge.3_Non-coding_Transcript|RETSAT_uc010ysm.2_Nonsense_Mutation_p.E121*	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	182					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GGAAACTTCTCCTTGAGGCCC	0.483000													10	108					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165547849	165547849	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:165547849C>A	uc003fem.4	-	1	1133	c.973G>T	c.(973-975)Gat>Tat	p.D325Y	BCHE_uc003fen.4_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	325					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GTGAGAAAATCACCATCCACG	0.383000													60	3					0	0	1	0	0
FOXD4	2298	broad.mit.edu	37	9	117618	117618	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:117618C>T	uc003zfz.3	-	0	800	c.502G>A	c.(502-504)Gag>Aag	p.E168K		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	168					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CGGCCCGGCTCGCGGGGGATC	0.632000													7	405					0	0	1	0	0
ASGR2	433	broad.mit.edu	37	17	7011223	7011223	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:7011223C>T	uc002gep.3	-	4	623	c.356G>A	c.(355-357)gGc>gAc	p.G119D	ASGR2_uc002gen.1_Missense_Mutation_p.G100D|ASGR2_uc002geo.2_Missense_Mutation_p.G114D|ASGR2_uc002geq.3_Missense_Mutation_p.G95D|ASGR2_uc002ger.3_Missense_Mutation_p.G119D|ASGR2_uc010clw.2_Missense_Mutation_p.G95D|ASGR2_uc010vtl.1_Non-coding_Transcript	NM_001181	NP_550434	P07307	ASGR2_HUMAN	Homo sapiens asialoglycoprotein receptor 2 (ASGR2), transcript variant 1, mRNA.	119					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	p.G118G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	ACCCACGCTGCCTCCTGGAAG	0.647000													27	1					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415677	19415677	+	RNA	SNP	A	A	T	rs142136612	by1000genomes	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr13:19415677A>T	uc010tcj.1	-	0		c.30433T>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AACACACTGCAATAGGCTTAC	0.388000													12	34					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059114	248059114	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:248059114A>G	uc010pzb.2	+	0	226	c.226A>G	c.(226-228)Agc>Ggc	p.S76G	OR2W3_uc001idp.1_Missense_Mutation_p.S76G	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTTCACCACCAGCTCCATCCC	0.582000													9	213					0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83216	83216	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrGL000219.1:83216G>C	uc022brb.1	-	3	451	c.138C>G	c.(136-138)atC>atG	p.I46M	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		TCGTTACCTTGATCATTTCTT	0.358000													4	54					0	0	1	0	0
AK022914	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr14:19857036A>G	uc001vvq.1	-	4		c.494T>C								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		CTGGATAATAAAGTTCATCTC	0.373000													7	64					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958225	121958225	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:121958225C>T	uc003idq.1	-	3	1428	c.901G>A	c.(901-903)Gtc>Atc	p.V301I		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	301	Fibronectin type-III 1.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGATCAGAGACGGTGAAGATG	0.463000													18	18					0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44840174	44840174	+	Silent	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr21:44840174G>A	uc002zdf.2	-	7	1039	c.912C>T	c.(910-912)taC>taT	p.Y304Y		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	304	UBA.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.D303D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CCTGCTCATCGTAGTCGCCCA	0.692000													42	32					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657752	46657752	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr22:46657752A>C	uc003bhh.3	-	0	1468	c.1468T>G	c.(1468-1470)Ttc>Gtc	p.F490V		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	490	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CATTTATAGAAATCACGGCTT	0.368000													51	57					0	0	1	0	0
SMCP	4184	broad.mit.edu	37	1	152857173	152857173	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:152857173C>G	uc021ozk.1	+	0	275	c.275C>G	c.(274-276)cCg>cGg	p.P92R	SMCP_uc001fat.3_Missense_Mutation_p.P92R	NM_030663	NP_109588	P49901	MCSP_HUMAN	Homo sapiens sperm mitochondria-associated cysteine-rich protein (SMCP), nuclear gene encoding mitochondrial protein, mRNA.	92					penetration of zona pellucida|sperm motility	mitochondrial membrane		p.P92L(2)|p.P92P(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCAACTCACCGCAAACTCAG	0.532000													7	196					0	0	1	0	0
EIF4B	1975	broad.mit.edu	37	12	53433961	53433961	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:53433961C>G	uc001sbh.4	+	14	1996	c.1790C>G	c.(1789-1791)tCt>tGt	p.S597C	EIF4B_uc010snu.2_Missense_Mutation_p.S602C|EIF4B_uc010snv.2_Missense_Mutation_p.S558C	NM_001417	NP_001408	P23588	IF4B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA.	597					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GCTGCTCTCTCTGTTGATGGT	0.438000													24	65					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86274381	86274381	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:86274381G>T	uc002sqs.3	-	18	3019	c.2640C>A	c.(2638-2640)tgC>tgA	p.C880*	POLR1A_uc010ytb.2_Nonsense_Mutation_p.C246*|POLR1A_uc002sqt.1_5'Flank	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	880					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CAAAAGGCATGCATGCCTGCA	0.478000													6	37					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974955	16974955	+	RNA	SNP	A	A	G	rs149751487	by1000genomes	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:16974955A>G	uc010och.2	+	6		c.1415A>G			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GCATGCTTTGATGTCTGGGAC	0.657000													3	30					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153250906	153250906	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:153250906G>A	uc003ims.3	-	7	1316	c.1154C>T	c.(1153-1155)aCa>aTa	p.T385I	FBXW7_uc011cii.2_Missense_Mutation_p.T385I|FBXW7_uc003imt.3_Missense_Mutation_p.T385I|FBXW7_uc011cih.2_Missense_Mutation_p.T209I|FBXW7_uc003imq.3_Missense_Mutation_p.T305I|FBXW7_uc003imr.3_Missense_Mutation_p.T267I	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	385					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTGTAAGCATGTGATCACATG	0.343000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								24	17					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404746	10404746	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:10404746C>T	uc002gmo.3	-	26	3513	c.3419G>A	c.(3418-3420)cGc>cAc	p.R1140H	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1140						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.R1140H(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GAGATCAGAGCGCTGCTTCTC	0.587000													54	9					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46602865	46602865	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:46602865G>A	uc002ruv.3	+	7	1433	c.923G>A	c.(922-924)cGg>cAg	p.R308Q		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	308	PAC.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GGCCAGTACCGGATGCTCGCA	0.602000													18	39					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47035510	47035510	+	Splice_Site	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:47035510G>C	uc003cqp.3	+	11	1376	c.1197_splice	c.e11+1	p.K399_splice	NBEAL2_uc003cqq.1_Splice_Site_p.K365_splice|NBEAL2_uc010hjm.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	399							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCTCGGCCAAGGTGAGGCTGC	0.602000													3	16					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237957190	237957190	+	Silent	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:237957190A>G	uc001hyl.1	+	94	13926	c.13806A>G	c.(13804-13806)cgA>cgG	p.R4602R	RYR2_uc010pyb.1_Silent_p.R35R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4602					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTTTAAGCGAGAAAAGGAAG	0.348000													14	11					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51487066	51487066	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:51487066A>G	uc004dpl.3	+	0	586	c.344A>G	c.(343-345)gAg>gGg	p.E115G		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	115					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CCTTCCCGAGAGGAACCGTTA	0.557000													5	22					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237957189	237957189	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:237957189G>C	uc001hyl.1	+	94	13925	c.13805G>C	c.(13804-13806)cGa>cCa	p.R4602P	RYR2_uc010pyb.1_Missense_Mutation_p.R35P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4602					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTTTTAAGCGAGAAAAGGAA	0.353000													14	11					0	0	1	0	0
FOXD4	2298	broad.mit.edu	37	9	117617	117617	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:117617T>C	uc003zfz.3	-	0	801	c.503A>G	c.(502-504)gAg>gGg	p.E168G		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	168					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCGGCCCGGCTCGCGGGGGAT	0.637000													7	405					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677014	100677014	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:100677014G>A	uc003uxp.1	+	2	2370	c.2317G>A	c.(2317-2319)Gac>Aac	p.D773N	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	773	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.D773N(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTCTTGACACAAGCAC	0.478000													112	272					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178921552	178921552	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:178921552A>T	uc003fjk.3	+	4	1191	c.1034A>T	c.(1033-1035)aAt>aTt	p.N345I		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	345					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N345K(45)|p.N345I(7)|p.V344G(5)|p.V344A(3)|p.V344M(3)|p.N345S(2)|p.N345D(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACCTACGTGAATGTAAATATT	0.303000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			70	2					0	0	1	0	0
AK311167	0	broad.mit.edu	37	9	69067873	69067873	+	RNA	SNP	A	A	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:69067873A>C	uc010mnq.2	+	1		c.471A>C								Homo sapiens cDNA, FLJ18209.																		aagaagaaaaagagcaaagat	0.284000													5	14					0	0	1	0	0
CHM	1121	broad.mit.edu	37	X	85211373	85211373	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:85211373C>T	uc004eet.3	-	7	981	c.951G>A	c.(949-951)gaG>gaA	p.E317E	CHM_uc011mqz.2_Silent_p.E169E	NM_000390	NP_000381	P24386	RAE1_HUMAN	Homo sapiens choroideremia (Rab escort protein 1) (CHM), transcript variant 1, mRNA.	317					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				AAAATGTGATCTCTTCATATC	0.328000													6	21					0	0	1	0	0
ZNF736	728927	broad.mit.edu	37	7	63796701	63796701	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:63796701C>T	uc011kdo.2	+	2	390	c.68C>T	c.(67-69)tCt>tTt	p.S23F		NM_001170905	NP_001164376	B4DX44	ZN736_HUMAN	Homo sapiens zinc finger protein 736 (ZNF736), mRNA.	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						TGCCTGGACTCTGCTCAGCAG	0.423000													25	14					0	0	1	0	0
WT1-AS	51352	broad.mit.edu	37	11	32460592	32460592	+	RNA	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:32460592C>A	uc021qfr.1	+	0		c.1118C>A			WT1-AS_uc010rec.2_Non-coding_Transcript|WT1-AS_uc010red.2_Non-coding_Transcript					Homo sapiens Wilms tumor upstream neighbor 1, mRNA (cDNA clone IMAGE:3633024).											endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						CACCCCGGCGCTGTCCACTGC	0.612000													13	24					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134671120	134671120	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr10:134671120C>A	uc021qbc.1	-	38	5649	c.5548G>T	c.(5548-5550)Gtc>Ttc	p.V1850F		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	11										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AGGCCCTGGACGCTGTGAAGC	0.572000													13	10					0	0	1	0	0
CNPY2	10330	broad.mit.edu	37	12	56705098	56705098	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:56705098C>T	uc001sku.2	-	3	854	c.305G>A	c.(304-306)cGc>cAc	p.R102H		NM_014255	NP_055070	Q9Y2B0	CNPY2_HUMAN	Homo sapiens canopy 2 homolog (zebrafish) (CNPY2), transcript variant 1, mRNA.	102	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						GTAGTTCTTGCGATGGGTGGA	0.532000													115	112					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70646733	70646733	+	Silent	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:70646733C>A	uc003pfc.1	+	7	921	c.804C>A	c.(802-804)gcC>gcA	p.A268A	COL19A1_uc010kam.2_Silent_p.A164A	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	268					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTGCTCATGCCAGTAAAATGT	0.418000													6	83					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1729792	1729792	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:1729792G>C	uc003gdo.3	+	3	818	c.663G>C	c.(661-663)gaG>gaC	p.E221D	TACC3_uc010ibz.3_Missense_Mutation_p.E221D|TACC3_uc003gdp.3_Intron	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	221						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			ACGGAGCCGAGGAAGAATGCA	0.617000													16	124					0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155013892	155013892	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:155013892G>A	uc001fgn.2	+	6	665	c.551G>A	c.(550-552)aGa>aAa	p.R184K	DCST1_uc010per.2_Missense_Mutation_p.R209K|DCST1_uc010pes.2_Missense_Mutation_p.R159K	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA.	184						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAATTGCTGAGAGCAGAGACT	0.577000													5	50					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16882348	16882348	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr10:16882348T>G	uc001ioo.3	-	61	10065	c.10013A>C	c.(10012-10014)cAg>cCg	p.Q3338P		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3338	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCCTGAAGCTGTAAGTAATT	0.448000													21	38					0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12315221	12315221	+	Nonsense_Mutation	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:12315221T>G	uc001mkg.1	+	2	534	c.243T>G	c.(241-243)taT>taG	p.Y81*		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	81	Interaction with MAPK1 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TTCCCCTGTATCTGCCTCATC	0.587000													6	190					0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639635	149639635	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:149639635A>T	uc011mxu.2	+	2	2025	c.1715A>T	c.(1714-1716)cAg>cTg	p.Q572L	MAMLD1_uc011mxt.1_Missense_Mutation_p.Q559L|MAMLD1_uc004fee.2_Missense_Mutation_p.Q597L|MAMLD1_uc011mxv.2_Missense_Mutation_p.Q572L|MAMLD1_uc011mxw.2_Missense_Mutation_p.Q524L	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	597					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607000													5	103					0	0	1	0	0
SFPQ	6421	broad.mit.edu	37	1	35652661	35652661	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:35652661C>T	uc001bys.3	-	8	2020	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K		NM_005066	NP_005057	P23246	SFPQ_HUMAN	Homo sapiens splicing factor proline/glutamine-rich (SFPQ), mRNA.	643					DNA recombination|DNA repair|alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|nucleotide binding|protein binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGATTAGCTTCATAACCTATG	0.463000			T	TFE3	papillary renal cell								17	86					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182850453	182850453	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:182850453C>T	uc001gpr.3	+	22	2854	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F	DHX9_uc001gps.3_Silent_p.F679F|DHX9_uc001gpt.3_Silent_p.F172F|DHX9_uc009wyd.3_5'UTR	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	893					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CAGAGCCTTTCATCAATGAAG	0.438000													54	47					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574908	28574908	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:28574908C>T	uc003xgz.1	+	2	1925	c.1332C>T	c.(1330-1332)tcC>tcT	p.S444S		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	444						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TGGTTATTTCCTCTGGGTGTG	0.617000													4	62					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74491273	74491273	+	Splice_Site	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:74491273C>T	uc002sko.1	-	5	717	c.715_splice	c.e5+1	p.N239_splice	SLC4A5_uc002skl.3_Splice_Site|SLC4A5_uc002skn.3_Splice_Site_p.N239_splice|SLC4A5_uc010ffc.1_Splice_Site_p.N239_splice|SLC4A5_uc002skp.1_Splice_Site_p.N175_splice|SLC4A5_uc002sks.1_Splice_Site_p.N239_splice	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	239						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCCTGACTCACTTGTGGTGGA	0.592000													17	48					0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26691433	26691433	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:26691433G>T	uc001bmg.1	-	3	722	c.604C>A	c.(604-606)Cca>Aca	p.P202T	ZNF683_uc001bmh.1_Missense_Mutation_p.P202T|ZNF683_uc009vsj.1_Missense_Mutation_p.P202T	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGGTGGGGTGGAGGCAGGAGA	0.602000													14	37					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325231	47325231	+	RNA	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:47325231C>A	uc001cqo.1	-	8		c.1337G>T								Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		TCCACAGAGTCTAAGGATAAA	0.388000													3	12					0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100730756	100730756	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:100730756C>T	uc003uxq.3	+	2	394	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C	TRIM56_uc003uxr.3_Missense_Mutation_p.R55C|TRIM56_uc022aiw.1_Missense_Mutation_p.R55C	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	55					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CGGCCGCGTCCGCTGCCCCGA	0.647000													27	72					0	0	1	0	0
DDX12P	440081	broad.mit.edu	37	12	9580293	9580293	+	RNA	SNP	A	A	G	rs139954536	by1000genomes	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:9580293A>G	uc021qut.1	-	4		c.329T>C			DDX12P_uc001qvx.4_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.									p.M473T(1)									CTTCAGCTCCATCCCTGAGAA	0.502000													3	30					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44574199	44574199	+	Silent	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:44574199G>T	uc003tlb.3	-	5	2069	c.2013C>A	c.(2011-2013)ggC>ggA	p.G671G	NPC1L1_uc011kbw.2_Silent_p.G671G|NPC1L1_uc003tlc.3_Silent_p.G671G|NPC1L1_uc003tld.3_Silent_p.G671G	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	671	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CGGCCACCCCGCCGAGGCCCA	0.622000											OREG0018038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	60					0	0	1	0	0
SLC17A5	26503	broad.mit.edu	37	6	74363526	74363526	+	Silent	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:74363526C>A	uc003phn.4	-	0	212	c.84G>T	c.(82-84)cgG>cgT	p.R28R	SLC17A5_uc010kay.3_Non-coding_Transcript|SLC17A5_uc011dyo.1_5'UTR	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	Homo sapiens solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5), mRNA.	28					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGGCTTCGGCCCGTGGGGCGC	0.726000													3	6					0	0	1	0	0
MCAM	4162	broad.mit.edu	37	11	119182524	119182524	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:119182524T>G	uc001pwf.3	-	9	1308	c.1279A>C	c.(1279-1281)Att>Ctt	p.I427L	MCAM_uc001pwg.1_5'Flank	NM_006500	NP_006491	P43121	MUC18_HUMAN	Homo sapiens melanoma cell adhesion molecule (MCAM), mRNA.	427					anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TCACCAAAAATGGCCACGTTG	0.602000													71	5					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32513671	32513671	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr21:32513671C>T	uc002yow.1	-	21	4099	c.3627G>A	c.(3625-3627)gcG>gcA	p.A1209A	TIAM1_uc011adk.1_Silent_p.A1209A|TIAM1_uc011adl.1_Silent_p.A1149A	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1209	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	p.A1209A(3)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCTCGCTCTCCGCATCGGTCA	0.597000													35	98					0	0	1	0	0
OR56B4	196335	broad.mit.edu	37	11	6129437	6129437	+	Silent	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:6129437T>G	uc010qzx.2	+	0	429	c.429T>G	c.(427-429)acT>acG	p.T143T		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATAGTCACTAAAGCTTTTG	0.498000													26	58					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141578966	141578966	+	Splice_Site	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:141578966C>T	uc010ioj.3	-	12	2194	c.1922_splice	c.e12-1	p.G641_splice		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	641	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CACCAGTGCACCTGTGGCAGC	0.502000													41	78					0	0	1	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1318557	1318557	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:1318557A>C	uc003jch.3	-	16	1590	c.1544T>G	c.(1543-1545)gTg>gGg	p.V515G	CLPTM1L_uc021xwe.1_Non-coding_Transcript|CLPTM1L_uc003jcg.3_Missense_Mutation_p.V346G	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Homo sapiens CLPTM1-like (CLPTM1L), mRNA.	515					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GCGTTTATCCACAGGATAAAG	0.562000													7	63					0	0	1	0	0
ASH2L	9070	broad.mit.edu	37	8	37985968	37985968	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:37985968A>T	uc003xkt.4	+	10	1383	c.1325A>T	c.(1324-1326)cAg>cTg	p.Q442L	ASH2L_uc011lbk.2_Missense_Mutation_p.Q303L|ASH2L_uc003xku.4_Missense_Mutation_p.Q348L|ASH2L_uc010lwa.3_Missense_Mutation_p.Q348L	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	Homo sapiens ash2 (absent, small, or homeotic)-like (Drosophila) (ASH2L), transcript variant 1, mRNA.	442	B30.2/SPRY.				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				GGTTGGTCCCAGCCCCTAGGT	0.527000													36	25					0	0	1	0	0
C1orf222	339457	broad.mit.edu	37	1	1854423	1854423	+	Splice_Site	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:1854423C>A	uc001aik.3	-	9	1531	c.681_splice	c.e9+1	p.K227_splice	C1orf222_uc001ail.3_Splice_Site_p.K227_splice			Q69YW0	CA222_HUMAN	RecName: Full=Uncharacterized protein C1orf222;	227										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCTGTGGGCACCTTCTTTGGA	0.672000													28	62					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163673	141163673	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:141163673A>G	uc010hup.3	+	1	2493	c.2446A>G	c.(2446-2448)Att>Gtt	p.I816V	ZBTB38_uc003etw.3_Missense_Mutation_p.I815V|ZBTB38_uc010hun.3_Missense_Mutation_p.I812V|ZBTB38_uc010huo.3_Missense_Mutation_p.I815V|ZBTB38_uc003ety.3_Missense_Mutation_p.I815V|ZBTB38_uc021xes.1_Missense_Mutation_p.I815V	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	815					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AACCAGCAAAATTGAAACCTA	0.433000													6	75					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	rs28934573		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:7577559G>T	uc002gim.2	-	6	916	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_uc002gig.1_Missense_Mutation_p.S241Y|TP53_uc002gih.3_Missense_Mutation_p.S241Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.S109Y|TP53_uc010cnf.1_Missense_Mutation_p.S109Y|TP53_uc002gii.1_Missense_Mutation_p.S109Y|TP53_uc010cni.1_Missense_Mutation_p.S241Y|TP53_uc010cnh.1_Missense_Mutation_p.S241Y|TP53_uc002gij.2_Missense_Mutation_p.S241Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.S148Y|TP53_uc002gio.2_Missense_Mutation_p.S109Y|DL476309_uc021tpg.1_Splice_Site|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(163)|p.S241C(50)|p.S241Y(16)|p.S240G(14)|p.S241del(10)|p.S241A(9)|p.S240R(9)|p.S241fs*6(9)|p.0?(8)|p.N239_C242delNSSC(6)|p.S240I(6)|p.S241T(6)|p.C242fs*5(6)|p.?(5)|p.S148F(4)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.S241fs*22(3)|p.N239_S240insX(2)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.H233_C242del10(2)|p.N239_C242>S(2)|p.N239_S240delNS(2)|p.S241_G245delSCMGG(2)|p.N239_C242del(2)|p.N239_S240insN(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.S240fs*26(1)|p.S241fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCCATGCAGGAACTGTTACA	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			37	4					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22758781	22758781	+	RNA	SNP	T	T	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr22:22758781T>C	uc021wml.1	+	61		c.6571T>C								Parts of antibodies, mostly variable regions.																		CGCAGCCGCCTTCAGTGTCTG	0.587000													6	94					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526781	23526781	+	Silent	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:23526781G>A	uc003jgo.3	+	10	1766	c.1584G>A	c.(1582-1584)gaG>gaA	p.E528E		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	528					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						AGTATGGAGAGTGTGGACAAG	0.458000										HNSCC(3;0.000094)			49	55					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120599309	120599309	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:120599309G>C	uc003yos.2	-	14	1456	c.1370C>G	c.(1369-1371)cCc>cGc	p.P457R	ENPP2_uc003yor.2_Missense_Mutation_p.P44R|ENPP2_uc010mdd.2_Missense_Mutation_p.P405R|ENPP2_uc003yot.2_Missense_Mutation_p.P405R	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	405				K -> P (in Ref. 9; AA sequence).	G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATGGCTTTGGGGTCATCTGT	0.478000													5	13					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:12887606C>G	uc001auk.2	-	2	447	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	84								p.C84S(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483000													4	86					0	0	1	0	0
FAM45A	404636	broad.mit.edu	37	X	129630083	129630083	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:129630083A>C	uc010nrh.3	+	0	1169	c.951A>C	c.(949-951)gaA>gaC	p.E317D	BC043223_uc004evu.3_Intron	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.	317										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		CGTTTTCAGAAGTTTCGGCTG	0.413000													19	54					0	0	1	0	0
WDR45	11152	broad.mit.edu	37	X	48933595	48933595	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:48933595T>A	uc004dml.1	-	6	621	c.449A>T	c.(448-450)gAc>gTc	p.D150V	WDR45_uc004dmi.3_5'Flank|WDR45_uc011mmt.2_Missense_Mutation_p.D47V|WDR45_uc004dmj.1_Missense_Mutation_p.D110V|WDR45_uc004dmk.1_Missense_Mutation_p.D149V|WDR45_uc004dmn.1_Missense_Mutation_p.D40V|WDR45_uc004dmp.1_Missense_Mutation_p.D150V	NM_007075	NP_009006	Q9Y484	WIPI4_HUMAN	Homo sapiens WD repeat domain 45 (WDR45), transcript variant 1, mRNA.	149					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GGGGCAGAGGTCACAGAGCCC	0.597000													8	25					0	0	1	0	0
MAP4K2	5871	broad.mit.edu	37	11	64563758	64563758	+	Missense_Mutation	SNP	G	G	A	rs148240107		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:64563758G>A	uc001obh.3	-	23	1830	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C	MAP4K2_uc001obi.3_Missense_Mutation_p.R572C	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	580	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	Golgi membrane|basolateral plasma membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GGGATGATGCGCTGGGTGAGG	0.647000													19	75					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881282	26881282	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:26881282G>A	uc003jgs.1	-	11	2502	c.2333C>T	c.(2332-2334)gCc>gTc	p.A778V	CDH9_uc011cnv.1_Missense_Mutation_p.A371V	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	778					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATACATATCGGCAAGTTTTTT	0.413000													129	67					0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66500939	66500939	+	RNA	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:66500939G>A	uc004aed.1	+	2		c.1032G>A								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		GAGCGCCGCGGAGCGCCTGAA	0.602000													3	25					0	0	1	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19200974	19200974	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:19200974C>A	uc001bbb.3	-	13	1838	c.1562G>T	c.(1561-1563)gGg>gTg	p.G521V	ALDH4A1_uc010ocu.2_Missense_Mutation_p.G461V|ALDH4A1_uc001bbc.3_Missense_Mutation_p.G521V|ALDH4A1_uc021ohl.1_Missense_Mutation_p.G470V	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	521					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	TCGGGCCCCCCCAAAGGGCTG	0.607000													7	92					0	0	1	0	0
AP1S2	8905	broad.mit.edu	37	X	15864064	15864064	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:15864064G>T	uc010nex.3	-	2	540	c.376C>A	c.(376-378)Cat>Aat	p.H126N	AP1S2_uc004cxh.3_Missense_Mutation_p.H84N|AP1S2_uc004cxi.3_Missense_Mutation_p.H84N|AP1S2_uc011mis.1_Missense_Mutation_p.H126N|AP1S2_uc011mit.2_Missense_Mutation_p.H126N|AP1S2_uc011miu.1_Missense_Mutation_p.H126N	NM_003916	NP_003907	P56377	AP1S2_HUMAN	Homo sapiens adaptor-related protein complex 1, sigma 2 subunit (AP1S2), mRNA.	84					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|Golgi membrane|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane	protein transporter activity			large_intestine(1)	1	Hepatocellular(33;0.183)					ACATAACGATGAATTATTTCC	0.318000													37	65					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32074556	32074556	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:32074556G>A	uc003jhl.3	+	17	3732	c.3344G>A	c.(3343-3345)gGc>gAc	p.G1115D	PDZD2_uc003jhm.3_Missense_Mutation_p.G1115D|PDZD2_uc011cnx.1_Missense_Mutation_p.G941D	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1115					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAAGGCCTGGGCTCCAGGCAC	0.597000													5	213					0	0	1	0	0
GMCL1	64395	broad.mit.edu	37	2	70096956	70096956	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:70096956G>A	uc002sfu.3	+	11	1531	c.1324G>A	c.(1324-1326)Gga>Aga	p.G442R		NM_178439	NP_848526	Q96IK5	GMCL1_HUMAN	Homo sapiens germ cell-less homolog 1 (Drosophila) (GMCL1), mRNA.	442					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						GCCATGTAGCGGATCTGTCAG	0.433000													14	35					0	0	1	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19200975	19200975	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:19200975C>A	uc001bbb.3	-	13	1837	c.1561G>T	c.(1561-1563)Ggg>Tgg	p.G521W	ALDH4A1_uc010ocu.2_Missense_Mutation_p.G461W|ALDH4A1_uc001bbc.3_Missense_Mutation_p.G521W|ALDH4A1_uc021ohl.1_Missense_Mutation_p.G470W	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	521					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	CGGGCCCCCCCAAAGGGCTGC	0.612000													8	93					0	0	1	0	0
LYPLA2	11313	broad.mit.edu	37	1	24121215	24121218	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:24121215_24121218delCTGT	uc001bht.3	+	9	810_813	c.689_692delCTGT	c.(688-693)cctgtcfs	p.P230fs		NM_007260	NP_009191	O95372	LYPA2_HUMAN	Homo sapiens lysophospholipase II (LYPLA2), mRNA.	230					fatty acid metabolic process	cytoplasm	hydrolase activity	p.P230S(1)		endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CTGCTGCCTCCTGTCTAACTAGTC	0.593													8	24	---	---	---	---					
DSP	1832	broad.mit.edu	37	6	7581043	7581043	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:7581043delC	uc003mxp.1	+	22	4899	c.4620delC	c.(4618-4620)atcfs	p.I1540fs	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1540	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCCTGAGGATCGACTATGAAA	0.502													66	177	---	---	---	---					
C6orf223	221416	broad.mit.edu	37	6	43970504	43970509	+	In_Frame_Del	DEL	GCGGCG	GCGGCG	-	rs72369323		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:43970504_43970509delGCGGCG	uc003own.3	+	3	390_395	c.370_375delGCGGCG	c.(370-375)gcggcgdel	p.AA130del	AK024736_uc003owm.1_Intron|C6orf223_uc003owo.3_3'UTR	NM_153246	NP_694978	Q8N319	CF223_HUMAN	Homo sapiens chromosome 6 open reading frame 223 (C6orf223), transcript variant 1, mRNA.	130	Ala-rich.									central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			GGTAGAGCGCgcggcggcggcggcgg	0.772													13	15	---	---	---	---					
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:71508370delA	uc003pfr.3	+	5	754	c.506delA	c.(505-507)gaafs	p.E169fs	SMAP1_uc011dxy.1_Non-coding_Transcript|SMAP1_uc003pfs.3_Frame_Shift_Del_p.E142fs|SMAP1_uc010kao.3_Frame_Shift_Del_p.E142fs|SMAP1_uc010kap.3_Frame_Shift_Del_p.E159fs	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN	Homo sapiens small ArfGAP 1 (SMAP1), transcript variant 1, mRNA.	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289													2	4	---	---	---	---					
ZNF219	51222	broad.mit.edu	37	14	21560753	21560758	+	In_Frame_Del	DEL	GAGGCT	GAGGCT	-	rs71794845		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr14:21560753_21560758delGAGGCT	uc001vzr.2	-	2	1119_1124	c.698_703delAGCCTC	c.(697-705)cagcctcca>cca	p.QP233del	ZNF219_uc001vzs.2_In_Frame_Del_p.QP233del|ZNF219_uc010aik.1_In_Frame_Del_p.QP233del	NM_016423	NP_057507	Q9P2Y4	ZN219_HUMAN	Homo sapiens zinc finger protein 219 (ZNF219), transcript variant 1, mRNA.	233				Missing (in Ref. 3; AAH00694).	negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q233_P234delQP(6)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ggctggggtggaggctgaggctgagg	0.743											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5	---	---	---	---					
IQGAP1	8826	broad.mit.edu	37	15	91019925	91019925	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr15:91019925delA	uc002bpl.1	+	23	2916	c.2815delA	c.(2815-2817)aaafs	p.K939fs		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	939					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAACTTACCAAAAAAAATAA	0.363													8	162	---	---	---	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	Splice_Site	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929	by1000genomes	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	uc002hwe.4	-	2	287	c.246_splice	c.e2-1	p.S82_splice		NM_033060	NP_149049	Q9BYQ7	KRA41_HUMAN	Homo sapiens keratin associated protein 4-1 (KRTAP4-1), mRNA.	101	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													9	381	---	---	---	---					
ZFP36	7538	broad.mit.edu	37	19	39898948	39898950	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:39898948_39898950delCAC	uc002olh.1	+	1	648_650	c.590_592delCAC	c.(589-594)tcacca>tca	p.P201del		NM_003407	NP_003398	P26651	TTP_HUMAN	Homo sapiens zinc finger protein 36, C3H type, homolog (mouse) (ZFP36), mRNA.	201					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCGGACCTCACCACCACCACC	0.685													10	1304	---	---	---	---					
CCDC155	147872	broad.mit.edu	37	19	49920659	49920659	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:49920659delC	uc002pnm.2	+	19	1786	c.1581delC	c.(1579-1581)gtcfs	p.V527fs	CCDC155_uc010emx.2_Frame_Shift_Del_p.V498fs	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA.	527						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CAGCTCCTGTCCTGGGCctgc	0.652													2	4	---	---	---	---					
