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
PSME1	5720	broad.mit.edu	37	14	24606640	24606640	+	Splice_Site	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr14:24606640G>A	ENST00000382708.3	+	4	309	c.246G>A	c.(244-246)gaG>gaA	p.E82E	PSME1_ENST00000470718.1_3'UTR|PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000561435.1_Splice_Site_p.E82E|PSME1_ENST00000206451.6_Splice_Site_p.E82E	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	82					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		AACAGCAGGAGGCAAGCTGGG	0.507000													30	8					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149513469	149513469	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr5:149513469A>C	ENST00000261799.4	-	5	1203	c.734T>G	c.(733-735)tTc>tGc	p.F245C		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	245	Ig-like C2-type 3.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCCACTCGAAGTTGACCAC	0.567000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								26	17					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1422832	1422832	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chrX:1422832C>A	ENST00000381524.3	+	11	1149	c.963C>A	c.(961-963)aaC>aaA	p.N321K	CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000501036.2_Missense_Mutation_p.N188K|CSF2RA_ENST00000417535.2_Missense_Mutation_p.N355K|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000381529.3_Missense_Mutation_p.N321K|CSF2RA_ENST00000381509.3_Missense_Mutation_p.N321K|CSF2RA_ENST00000432318.2_Missense_Mutation_p.N321K			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	321						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	ACGACGGGAACCTCGGCTCTG	0.498000													7	287					0.00307968	0.00311315	1	1	0
FZD9	8326	broad.mit.edu	37	7	72849620	72849620	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:72849620G>A	ENST00000344575.3	+	1	1512	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	428					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCCACATCCGCAAGATCATG	0.617000													17	28					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580275	82580275	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:82580275T>A	ENST00000333891.9	-	6	9966	c.9629A>T	c.(9628-9630)cAa>cTa	p.Q3210L	PCLO_ENST00000423517.2_Missense_Mutation_p.Q3210L	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGCTGCTGTTGTTTATCTTC	0.458000													10	68					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679149	100679149	+	Silent	SNP	T	T	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:100679149T>C	ENST00000306151.4	+	3	4516	c.4452T>C	c.(4450-4452)agT>agC	p.S1484S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1484	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					ACTCTAACAGTCCTGTGGTCA	0.473000													8	385					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836216	43836216	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr20:43836216C>T	ENST00000372781.3	+	2	335	c.278C>T	c.(277-279)aCg>aTg	p.T93M	SEMG1_ENST00000244069.6_Missense_Mutation_p.T93M	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTACATAAGACGACAAAATCA	0.378000													64	49					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	RNA	SNP	T	T	A	rs141013493	by1000genomes	TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269000													8	152					0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45050943	45050943	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr15:45050943A>G	ENST00000558173.1	+	2	4837	c.92A>G	c.(91-93)gAg>gGg	p.E31G	TRIM69_ENST00000559390.1_Missense_Mutation_p.E235G|TRIM69_ENST00000560442.1_Missense_Mutation_p.E31G|TRIM69_ENST00000558329.1_Missense_Mutation_p.E31G|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000338264.4_Missense_Mutation_p.E76G|TRIM69_ENST00000329464.4_Missense_Mutation_p.E235G			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	235	Necessary for nuclear localization (By similarity).		V -> A (in dbSNP:rs3759880).		apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TTGAATGAGGAGATGGAGTTG	0.473000													3	28					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242433520	242433520	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr2:242433520G>C	ENST00000264042.3	+	27	3315	c.3145G>C	c.(3145-3147)Gtc>Ctc	p.V1049L	STK25_ENST00000316586.4_3'UTR	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	1049					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GGAGGGGATGGTCAGGGGGAA	0.617000													14	51					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	31					0	0	1	0	0
RP11-483E23.2	0	broad.mit.edu	37	15	28600002	28600002	+	RNA	SNP	T	T	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr15:28600002T>A	ENST00000568624.1	-	0	404																											TTCGTATGGTTTGAACCTGGG	0.493000													4	95					0	0	1	0	0
RNA5-8SP2	100873571	broad.mit.edu	37	16	33965541	33965541	+	RNA	SNP	C	C	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr16:33965541C>A	ENST00000363564.1	+	0	116																											CAATTGCAGCCCGGGTTCCTC	0.587000													15	24					1.15088e-07	1.21627e-07	1	1	0
CDC42BPG	55561	broad.mit.edu	37	11	64603246	64603246	+	Silent	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr11:64603246C>T	ENST00000342711.5	-	14	1745	c.1746G>A	c.(1744-1746)tcG>tcA	p.S582S		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	582					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TGGCCTGGGACGACTCCTCAA	0.667000													4	18					0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5594175	5594175	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr19:5594175C>T	ENST00000252542.4	-	15	2198	c.1934G>A	c.(1933-1935)cGg>cAg	p.R645Q		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	645	Arg-rich.|Glu-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTCCCGCTCCCGCTGCTCGCG	0.672000													7	20					0	0	1	0	0
COX10	1352	broad.mit.edu	37	17	13977745	13977745	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr17:13977745T>G	ENST00000261643.3	+	2	226	c.149T>G	c.(148-150)tTt>tGt	p.F50C	COX10_ENST00000536205.1_5'UTR|COX10_ENST00000429152.2_Missense_Mutation_p.F50C|COX10_ENST00000537334.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	50					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TGGATTACATTTCAGCACTTT	0.398000													68	96					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31589808	31589808	+	Silent	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr2:31589808G>A	ENST00000379416.3	-	21	2298	c.2250C>T	c.(2248-2250)acC>acT	p.T750T		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	750					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GAACAGCAATGGTGCAGTGAG	0.542000													46	44					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117691474	117691474	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr12:117691474A>G	ENST00000317775.6	-	17	3302	c.2617T>C	c.(2617-2619)Ttt>Ctt	p.F873L	NOS1_ENST00000338101.4_Missense_Mutation_p.F907L|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	873	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCACTCTCAAAGTTGTCTCTG	0.557000													41	25					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129828695	129828695	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr6:129828695T>A	ENST00000421865.2	+	62	8814	c.8765T>A	c.(8764-8766)cTg>cAg	p.L2922Q		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2922	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCTGCCGATCTGGAACAACCC	0.478000													36	115					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181071	140181071	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr5:140181071G>C	ENST00000522353.2	+	1	289	c.289G>C	c.(289-291)Ggg>Cgg	p.G97R	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G97R	NM_018906.2	NP_061729.1												p.G97R(2)|p.G97W(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACTGTGCGGGCGGAGCGC	0.557000													6	316					0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148619346	148619346	+	Missense_Mutation	SNP	C	C	T	rs150488528	byFrequency	TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr5:148619346C>T	ENST00000506113.1	+	12	1581	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	ABLIM3_ENST00000504238.1_Missense_Mutation_p.R305W|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R367W|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000519549.1_3'UTR|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R305W|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R367W|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R305W|RP11-331K21.1_ENST00000512647.2_RNA|AC012613.2_ENST00000523176.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	367					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACCTCCGGCAGAGACG	0.642000													39	63					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114469804	114469804	+	Silent	SNP	A	A	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr5:114469804A>G	ENST00000513154.1	-	8	1577	c.1251T>C	c.(1249-1251)gtT>gtC	p.V417V	TRIM36_ENST00000282369.3_Silent_p.V429V|TRIM36_ENST00000514154.1_Silent_p.V274V			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	429	Fibronectin type-III.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CATTGTTATAAACTTTGCTCT	0.328000													3	68					0	0	1	0	0
LEMD1	93273	broad.mit.edu	37	1	205350789	205350789	+	Silent	SNP	A	A	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:205350789A>T	ENST00000367153.4	-	6	645	c.543T>A	c.(541-543)ggT>ggA	p.G181G	LEMD1_ENST00000367154.1_3'UTR|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000367149.3_3'UTR|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000367152.1_Silent_p.G140G|LEMD1_ENST00000367151.2_Silent_p.G140G|LEMD1_ENST00000391936.2_3'UTR	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	181						integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			AAATTACTTAACCAAACAGCG	0.488000													22	129					0	0	1	0	0
IQCF2	389123	broad.mit.edu	37	3	51897231	51897231	+	Missense_Mutation	SNP	C	C	T	rs140755124		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr3:51897231C>T	ENST00000333127.3	+	3	369	c.340C>T	c.(340-342)Cgt>Tgt	p.R114C	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	114	IQ 2.									endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCGTATGTGGCGTGTCCGCTG	0.597000													44	32					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44415582	44415582	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:44415582G>A	ENST00000372343.3	+	2	1240	c.578G>A	c.(577-579)aGc>aAc	p.S193N		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	193					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GTGCGGACCAGCCTGGCGGTG	0.632000													18	13					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160448256	160448256	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr6:160448256C>A	ENST00000356956.1	+	6	834	c.686C>A	c.(685-687)cCc>cAc	p.P229H		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	229					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CGGGCCTGTCCCCCCGGCACT	0.552000													26	17					1.75199e-13	1.91688e-13	1	1	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	40					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67280148	67280148	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr17:67280148T>A	ENST00000392676.3	-	18	2402	c.2338A>T	c.(2338-2340)Act>Tct	p.T780S	ABCA5_ENST00000588877.1_Missense_Mutation_p.T780S|ABCA5_ENST00000392677.2_Missense_Mutation_p.T780S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	780					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TCTTCCAAAGTCGTCATGGAA	0.328000													19	34					0	0	1	0	0
VSTM2L	128434	broad.mit.edu	37	20	36560079	36560079	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr20:36560079G>A	ENST00000373461.4	+	2	411	c.164G>A	c.(163-165)gGc>gAc	p.G55D	VSTM2L_ENST00000373459.4_Intron|VSTM2L_ENST00000373458.3_Missense_Mutation_p.G55D	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	55	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				GCACGGACGGGCGAGGACGTG	0.637000													81	75					0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450293	158450293	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:158450293G>T	ENST00000368152.1	+	1	626	c.626G>T	c.(625-627)tGt>tTt	p.C209F	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTTCTGGCTTGTACCAACACA	0.378000													88	141					2.0191e-50	2.26236e-50	1	1	0
TMTC2	160335	broad.mit.edu	37	12	83526152	83526152	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr12:83526152A>G	ENST00000549919.1	+	13	4282	c.2477A>G	c.(2476-2478)aAg>aGg	p.K826R	TMTC2_ENST00000321196.3_Missense_Mutation_p.K832R			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	832						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CAAGGCTTAAAGACTTCTAAG	0.502000													6	32					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238289918	238289918	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr2:238289918G>A	ENST00000295550.4	-	5	1989	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	COL6A3_ENST00000392004.3_Missense_Mutation_p.R307W|COL6A3_ENST00000392003.2_Missense_Mutation_p.R106W|COL6A3_ENST00000346358.4_Missense_Mutation_p.R513W|COL6A3_ENST00000472056.1_Missense_Mutation_p.R106W|COL6A3_ENST00000347401.3_Missense_Mutation_p.R312W|COL6A3_ENST00000409809.1_Missense_Mutation_p.R307W|COL6A3_ENST00000353578.4_Missense_Mutation_p.R307W	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	513	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCATTTTCCGCACAGCGGTT	0.527000													113	141					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969303	118969303	+	Silent	SNP	A	A	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr10:118969303A>C	ENST00000334549.1	+	3	648	c.648A>C	c.(646-648)acA>acC	p.T216T		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	216						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AACTTGGCACATGTCCTTCAC	0.527000													32	14					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981166	61981166	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr20:61981166A>G	ENST00000370263.4	-	5	1818	c.1597T>C	c.(1597-1599)Tgc>Cgc	p.C533R	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	533					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TCCTTCTTGCATGTGCATTTG	0.711000													5	29					0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58711063	58711063	+	Silent	SNP	A	A	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr11:58711063A>T	ENST00000300079.5	+	2	122	c.72A>T	c.(70-72)ggA>ggT	p.G24G	GLYATL1_ENST00000317391.4_5'UTR|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	0						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	tatccccaggagcgcgaagtg	0.438000													11	39					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141747212	141747212	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr2:141747212G>C	ENST00000389484.3	-	17	3630	c.2659C>G	c.(2659-2661)Cct>Gct	p.P887A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	887	LDL-receptor class A 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATCATCAGGACAGCTATGA	0.383000										TSP Lung(27;0.18)			35	58					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71949087	71949087	+	Splice_Site	SNP	C	C	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr11:71949087C>A	ENST00000298229.2	+	27	3758	c.3554C>A	c.(3553-3555)gCt>gAt	p.A1185D	INPPL1_ENST00000538751.1_Splice_Site_p.A943D|INPPL1_ENST00000541756.1_Splice_Site_p.A943D	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1185					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	p.A1185D(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTTCCTTAGGCTCCGTGCCTG	0.657000											OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	13					0.000602214	0.00061545	1	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102292770	102292770	+	RNA	SNP	C	C	T	rs149751844	by1000genomes	TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr15:102292770C>T	ENST00000561463.1	+	0	816																											AGCGGCGCGACGAGATGCTGC	0.597000													5	20					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102666018	102666018	+	Silent	SNP	A	A	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr11:102666018A>T	ENST00000315274.6	-	6	853	c.786T>A	c.(784-786)cgT>cgA	p.R262R	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	262	Metalloprotease.		R -> S (in dbSNP:rs12282811).		blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GATTTTGGGAACGTCCTAAGG	0.418000													33	22					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55593606	55593606	+	Missense_Mutation	SNP	A	A	G	rs121913511		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr4:55593606A>G	ENST00000288135.5	+	11	1769	c.1672A>G	c.(1672-1674)Aag>Gag	p.K558E		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	558			Missing (in GIST; somatic mutation).		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.W557_K558del(120)|p.W557_V559>F(18)|p.W557_E561del(17)|p.W557_V559>C(9)|p.Y553_K558>(8)|p.E554_K558del(8)|p.K550_K558del(7)|p.W557_V559del(7)|p.Q556_V560del(6)|p.K558_V560del(5)|p.Y553_K558del(4)|p.K558_V559del(3)|p.W557_V560>C(3)|p.Y553_T574>S(3)|p.K558_E562del(3)|p.V555_K558del(3)|p.V555_I571del(3)|p.M552_W557del(3)|p.V555_V560del(3)|p.V555_P573del(3)|p.Q556_V560>H(3)|p.V555_V559del(3)|p.W557_K558>CP(3)|p.W557_K558>E(2)|p.Q556_L576del(2)|p.K558_N564del(2)|p.K558_V559>SS(2)|p.K558E(2)|p.W557_Q575del(2)|p.K550fs*6(2)|p.Q556_K558del(2)|p.K550_V559del(2)|p.V555_E562del(2)|p.W557_V560del(2)|p.Q556_V559del(2)|p.W557_P573>S(2)|p.W557_K558>FP(1)|p.V555_G565del(1)|p.Q556_N566>SNNLQLY(1)|p.W557_K558>C(1)|p.P551_K558del(1)|p.Q556_V559>H(1)|p.M552_E561>K(1)|p.V555_I563del(1)|p.W557_K558>S(1)|p.Q556_K558>HPCR(1)|p.E554_I571del(1)|p.K558_Q575del(1)|p.Q556_V560>F(1)|p.V555_Y570del(1)|p.M552_T574>TESA(1)|p.W557_K558>SS(1)|p.Q556_D572>PS(1)|p.K558*(1)|p.Q556_D572del(1)|p.K558_G565del(1)|p.W557_E562del(1)|p.V555_N566>D(1)|p.V555_V560>V(1)|p.Q556_V560>HNLQLY(1)|p.W557_K558>CT(1)|p.M552_K558del(1)|p.Q556_E561del(1)|p.Q556_K558>H(1)|p.Q556_E561>HH(1)|p.W557_V560>F(1)|p.W557_I571del(1)|p.Q556_K558>R(1)|p.E554_N564del(1)|p.Q556_V560>TTF(1)|p.Q556_D572>H(1)|p.W557_V559>I(1)|p.M552_D572del(1)|p.Y553_V559>E(1)|p.Q556_T574del(1)|p.P551_V559del>L(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.Q556_V559>HT(1)|p.E554_E562del(1)|p.Y553_V559del(1)|p.K558_D572del(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGTACAGTGGAAGGTTGTTGA	0.383000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				47	280					0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132216761	132216761	+	Nonsense_Mutation	SNP	A	A	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr5:132216761A>T	ENST00000265343.5	-	21	3861	c.3482T>A	c.(3481-3483)tTg>tAg	p.L1161*		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	1161					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAAGATATCAACTTGGCATC	0.458000													55	68					0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127563860	127563860	+	Silent	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr9:127563860C>T	ENST00000373580.3	+	5	837	c.837C>T	c.(835-837)cgC>cgT	p.R279R	OLFML2A_ENST00000288815.5_Silent_p.R65R	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	279										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCAAGCCCCGCGCCCTGGCCC	0.632000													8	22					0	0	1	0	0
IGHG4	3503	broad.mit.edu	37	14	106092170	106092170	+	RNA	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr14:106092170C>T	ENST00000390543.2	-	0	233																											TGTAGGTCTTCGTGCCCAAGC	0.612000													66	23					0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2582924	2582924	+	Silent	SNP	C	C	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:2582924C>G	ENST00000340611.4	-	6	1093	c.837G>C	c.(835-837)ctG>ctC	p.L279L		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	279					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CTGTCTCCCACAGGCTGCCGT	0.612000													25	49					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20072024	20072024	+	Splice_Site	SNP	C	C	T	rs145825608	byFrequency	TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:20072024C>T	ENST00000294543.6	-	10	1119		c.e10+1		TMCO4_ENST00000375122.2_Intron|TMCO4_ENST00000375127.1_Splice_Site	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4							integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CTGGTCCTCACGGTATTTGCC	0.612000													31	104					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125316117	125316117	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr9:125316117C>A	ENST00000373688.2	+	1	727	c.669C>A	c.(667-669)ttC>ttA	p.F223L		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GCTTGCTGTTCCTCACTGTTC	0.502000													32	55					2.85442e-18	3.16025e-18	1	1	0
RYR2	6262	broad.mit.edu	37	1	237758859	237758859	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:237758859C>T	ENST00000366574.2	+	34	4815	c.4498C>T	c.(4498-4500)Cgc>Tgc	p.R1500C	RYR2_ENST00000360064.6_Missense_Mutation_p.R1498C|RYR2_ENST00000542537.1_Missense_Mutation_p.R1484C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1500	4 X approximate repeats.|B30.2/SPRY 3.				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)			CGGGCAAGGACGCAACAATAA	0.483000													21	27					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68030998	68030998	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr8:68030998G>A	ENST00000262210.5	+	13	1655	c.1624G>A	c.(1624-1626)Gta>Ata	p.V542I	CSPP1_ENST00000412460.1_Missense_Mutation_p.V248I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	577						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AATGATGGGCGTACAGCCTGC	0.308000													3	82					0	0	1	0	0
LAPTM5	7805	broad.mit.edu	37	1	31211793	31211793	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:31211793G>T	ENST00000294507.3	-	5	578	c.504C>A	c.(502-504)aaC>aaA	p.N168K		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	168					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCATGTGGTTCATGGACT	0.552000													7	15					2.7689e-08	2.95985e-08	1	1	0
DAAM2	23500	broad.mit.edu	37	6	39828775	39828775	+	Silent	SNP	C	C	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr6:39828775C>A	ENST00000538976.1	+	3	422	c.240C>A	c.(238-240)atC>atA	p.I80I	DAAM2_ENST00000274867.4_Silent_p.I80I|DAAM2_ENST00000405961.3_Silent_p.I80I|DAAM2_ENST00000398904.2_Silent_p.I80I|DAAM2_ENST00000494405.1_3'UTR	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	80	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AATGGCAGATCTACTGCAGCA	0.498000													6	17					5.18039e-06	5.41322e-06	1	1	0
CST4	1472	broad.mit.edu	37	20	23669471	23669471	+	Missense_Mutation	SNP	G	G	A	rs138934020		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr20:23669471G>A	ENST00000217423.3	-	1	206	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	46						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					TGAAGGGCACGCTGTACCCAC	0.592000													58	34					0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38565450	38565450	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr3:38565450G>A	ENST00000287675.5	+	6	800	c.704G>A	c.(703-705)cGc>cAc	p.R235H	EXOG_ENST00000422077.2_Missense_Mutation_p.R185H|EXOG_ENST00000358249.2_Intron	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	235						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						ATCCTGGCCCGCAGAAGCTCA	0.507000													4	81					0	0	1	0	0
TUBB6	84617	broad.mit.edu	37	18	12311033	12311033	+	Silent	SNP	G	G	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr18:12311033G>T	ENST00000317702.5	+	3	492	c.258G>T	c.(256-258)cgG>cgT	p.R86R	TUBB6_ENST00000586653.1_Silent_p.R86R|TUBB6_ENST00000591208.1_Silent_p.R86R|TUBB6_ENST00000590967.1_Silent_p.R86R|TUBB6_ENST00000592683.1_Silent_p.R86R|TUBB6_ENST00000591909.1_Silent_p.R86R			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	86					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		AGCTTTTCCGGCCTGACAACT	0.458000													6	25					0.000157383	0.000162629	1	1	0
MUCL1	118430	broad.mit.edu	37	12	55248906	55248906	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr12:55248906C>T	ENST00000308796.6	+	2	111	c.65C>T	c.(64-66)cCg>cTg	p.P22L	MUCL1_ENST00000546809.1_Missense_Mutation_p.P17L|MUCL1_ENST00000547990.1_3'UTR	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN	mucin-like 1	22						extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						TCAGAGAATCCGACAACAGCT	0.418000													16	26					0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517709	158517709	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:158517709G>C	ENST00000302617.3	-	1	186	c.187C>G	c.(187-189)Ccc>Gcc	p.P63A		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AAGTACATGGGCTTATGCAGC	0.473000													3	61					0	0	1	0	0
LOC154761	154761	broad.mit.edu	37	7	143510077	143510077	+	RNA	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:143510077C>T	ENST00000494978.1	-	0	1501					NR_015421.1																						GCTGCCACACCGATGACCTTA	0.547000													32	117					0	0	1	0	0
ZPBP	11055	broad.mit.edu	37	7	50023025	50023025	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:50023025C>T	ENST00000046087.2	-	7	943	c.874G>A	c.(874-876)Ggt>Agt	p.G292S	ZPBP_ENST00000419417.1_Missense_Mutation_p.G291S|ZPBP_ENST00000491129.1_5'UTR	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	292					binding of sperm to zona pellucida	extracellular region		p.G292S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TGGAGAGTACCTTCAATATAG	0.353000													35	76					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1204826	1204826	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr2:1204826C>T	ENST00000308624.5	+	9	758	c.629C>T	c.(628-630)cCg>cTg	p.P210L	SNTG2_ENST00000407292.1_Missense_Mutation_p.P83L|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	210					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.P210Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCTAAGGACCCGAGGTATGAG	0.567000													31	58					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31391335	31391335	+	Silent	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr16:31391335C>T	ENST00000268296.4	+	26	3130	c.3009C>T	c.(3007-3009)atC>atT	p.I1003I	ITGAX_ENST00000562522.1_Silent_p.I1003I	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1003					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CAGAGAAAATCGCACCCCCAG	0.577000													30	30					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578524	7578524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr17:7578524G>A	ENST00000420246.2	-	5	538	c.406C>T	c.(406-408)Caa>Taa	p.Q136*	TP53_ENST00000269305.4_Nonsense_Mutation_p.Q136*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q136*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q136*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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)		TTGGCCAGTTGGCAAAACATC	0.562000		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)			47	7					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87683308	87683308	+	Silent	SNP	A	A	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr8:87683308A>G	ENST00000320005.5	-	4	404	c.357T>C	c.(355-357)ccT>ccC	p.P119P		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	119					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CAGGAGCTGCAGGCGGTTTGT	0.413000													63	138					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46321434	46321434	+	Silent	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr21:46321434G>A	ENST00000397850.2	-	7	1166	c.714C>T	c.(712-714)gaC>gaT	p.D238D	ITGB2_ENST00000302347.5_Silent_p.D238D|ITGB2_ENST00000397852.1_Silent_p.D238D|ITGB2_ENST00000397854.3_Silent_p.D181D|ITGB2_ENST00000355153.4_Silent_p.D238D|ITGB2_ENST00000397857.1_Silent_p.D238D			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	238	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCATCATGGCGTCCAGCCCAC	0.662000													15	36					0	0	1	0	0
FGF22	27006	broad.mit.edu	37	19	643472	643472	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr19:643472C>T	ENST00000586042.2	+	3	389	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	FGF22_ENST00000166133.3_Silent_p.Y86Y|FGF22_ENST00000215530.5_Silent_p.Y127Y			Q9HCT0	FGF22_HUMAN	fibroblast growth factor 22	0					cell differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular space	growth factor activity			endometrium(1)|lung(1)|prostate(1)	3		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAACACCTACGCCTCACAGC	0.741000													15	11					0	0	1	0	0
RNA5-8SP2	100873571	broad.mit.edu	37	16	33965544	33965544	+	RNA	SNP	G	G	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr16:33965544G>T	ENST00000363564.1	+	0	119																											TTGCAGCCCGGGTTCCTCCCA	0.587000													14	27					4.7546e-09	5.14161e-09	1	1	0
MRGPRX1	259249	broad.mit.edu	37	11	18955787	18955787	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr11:18955787G>A	ENST00000302797.3	-	1	769	c.545C>T	c.(544-546)gCg>gTg	p.A182V	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	182					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AATCAGCCACGCGACTGTGAT	0.522000													47	23					0	0	1	0	0
GSTA2	2939	broad.mit.edu	37	6	52616422	52616422	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr6:52616422C>T	ENST00000493422.1	-	6	654	c.499G>A	c.(499-501)Gtg>Atg	p.V167M		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	167	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	AGCTCTTCCACGTAGTAGAGA	0.517000													24	80					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74287133	74287133	+	Silent	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr17:74287133G>A	ENST00000262765.5	-	4	3356	c.3177C>T	c.(3175-3177)acC>acT	p.T1059T		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1059							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TCTCCAAGTCGGTTTGGCCGG	0.522000													49	52					0	0	1	0	0
CHPF2	54480	broad.mit.edu	37	7	150932146	150932146	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:150932146C>G	ENST00000035307.2	+	2	1789	c.276C>G	c.(274-276)atC>atG	p.I92M	CHPF2_ENST00000495645.1_Missense_Mutation_p.I84M	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	92						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CTCGGTACATCCAGACAGAGC	0.572000													27	52					0	0	1	0	0
TUBB3	10381	broad.mit.edu	37	16	90001621	90001621	+	Silent	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr16:90001621C>T	ENST00000304984.5	+	3	2841	c.546C>T	c.(544-546)gcC>gcT	p.A182A	TUBB3_ENST00000554444.1_Silent_p.A182A|TUBB3_ENST00000315491.7_Silent_p.A254A|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Silent_p.A601A			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	254					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCAAGCTGGCCGTCAACATGG	0.687000													32	41					0	0	1	0	0
PSAT1	29968	broad.mit.edu	37	9	80923424	80923424	+	Missense_Mutation	SNP	G	G	A	rs114496656	by1000genomes	TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr9:80923424G>A	ENST00000376588.3	+	6	733	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	PSAT1_ENST00000347159.2_Missense_Mutation_p.R222Q	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	222					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TTTGCCCTCCGAGAGTGCCCC	0.537000													23	31					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51361822	51361822	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr19:51361822C>T	ENST00000360617.3	+	4	601	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	KLK3_ENST00000593997.1_Missense_Mutation_p.R201C|KLK3_ENST00000597483.1_Missense_Mutation_p.R158C|KLK3_ENST00000595952.1_Missense_Mutation_p.R158C|KLK3_ENST00000326003.2_Missense_Mutation_p.R201C			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	201	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GTGTGCTGGACGCTGGACAGG	0.532000													21	70					0	0	1	0	0
CCL1	6346	broad.mit.edu	37	17	32687613	32687613	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr17:32687613T>C	ENST00000225842.3	-	3	325	c.256A>G	c.(256-258)Aaa>Gaa	p.K86E		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	86					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		CTCAGCATTTTTCTGTGCCTC	0.502000													4	153					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129602	83129602	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chrX:83129602T>C	ENST00000329312.4	+	4	1923	c.1886T>C	c.(1885-1887)aTg>aCg	p.M629T		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	629	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGGTGCAAGATGCCTCCTCCA	0.408000													25	5					0	0	1	0	0
DNASE2B	58511	broad.mit.edu	37	1	84880391	84880391	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:84880391G>A	ENST00000370665.3	+	6	959	c.926G>A	c.(925-927)tGt>tAt	p.C309Y	DNASE2B_ENST00000370662.3_Missense_Mutation_p.C101Y	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	309					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		GCCAAGTGGTGTATTTCCCAA	0.413000													24	71					0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133355812	133355812	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr9:133355812C>T	ENST00000372394.1	+	12	1295	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000372393.3_Missense_Mutation_p.R272C|ASS1_ENST00000352480.5_Missense_Mutation_p.R272C			P00966	ASSY_HUMAN	argininosuccinate synthase 1	272			R -> C (in CTLN1).		arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGTGGAGAACCGCTTCATTGG	0.607000													14	22					0	0	1	0	0
HNRNPF	3185	broad.mit.edu	37	10	43882891	43882891	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr10:43882891C>T	ENST00000443950.2	-	3	928	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	HNRNPF_ENST00000357065.4_Missense_Mutation_p.E148K|HNRNPF_ENST00000544000.1_Missense_Mutation_p.E148K|HNRNPF_ENST00000337970.3_Missense_Mutation_p.E148K|HNRNPF_ENST00000356053.3_Missense_Mutation_p.E148K	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	148	RRM 2.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ATCTTGCCTTCGGGGTCCACA	0.507000													17	49					0	0	1	0	0
STAG3L4	64940	broad.mit.edu	37	7	66774605	66774605	+	RNA	SNP	A	A	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:66774605A>T	ENST00000416602.2	+	0	622					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				AGTCTGCACGAAGATATCAAT	0.483000													82	157					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97888411	97888411	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr3:97888411T>C	ENST00000356526.2	+	1	868	c.868T>C	c.(868-870)Tac>Cac	p.Y290H		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TCCTATCATCTACAGTCTGAG	0.333000													4	95					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178916614	178916614	+	Translation_Start_Site	SNP	A	A	G			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr3:178916614A>G	ENST00000263967.3	+	2	158	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1					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|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1V(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)			AATCAGAACAATGCCTCCACG	0.378000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			33	14					0	0	1	0	0
E2F3	1871	broad.mit.edu	37	6	20488347	20488347	+	Silent	SNP	C	C	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr6:20488347C>T	ENST00000346618.3	+	6	1069	c.1003C>T	c.(1003-1005)Cta>Tta	p.L335L	E2F3_ENST00000535432.1_Silent_p.L204L	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	335	Dimerization (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			TTCATAGAGCCTACAAATACA	0.373000													13	104					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57871589	57871589	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr4:57871589delA	ENST00000381227.1	+	9	1491	c.1078delA	c.(1078-1080)aaafs	p.K361fs	POLR2B_ENST00000431623.2_Frame_Shift_Del_p.K286fs|POLR2B_ENST00000441246.2_Frame_Shift_Del_p.K354fs|POLR2B_ENST00000314595.5_Frame_Shift_Del_p.K361fs			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	361					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTGTGAGACCAAAAAAGCCTA	0.313													7	381	---	---	---	---					
CDS1	1040	broad.mit.edu	37	4	85556474	85556475	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr4:85556474_85556475insT	ENST00000295887.5	+	8	1203_1204	c.780_781insT	c.(781-783)tttfs	p.F261fs		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	261					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	p.G260G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		ACCTTTTTGGATTTTTTTTTGG	0.307													7	138	---	---	---	---					
ETNPPL	64850	broad.mit.edu	37	4	109680921	109680924	+	Frame_Shift_Del	DEL	AACA	AACA	-			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr4:109680921_109680924delAACA	ENST00000296486.3	-	3	470_473	c.316_319delTGTT	c.(316-321)tgttatfs	p.CY106fs	ETNPPL_ENST00000411864.2_Frame_Shift_Del_p.CY100fs|ETNPPL_ENST00000512646.1_Frame_Shift_Del_p.CY48fs|ETNPPL_ENST00000510706.1_Frame_Shift_Del_p.CY66fs	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		TTTGTAAAATAACAAACAGAGAGT	0.422													24	28	---	---	---	---					
ARHGEF25	115557	broad.mit.edu	37	12	58010623	58010623	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr12:58010623delA	ENST00000286494.4	+	15	2149	c.1689delA	c.(1687-1689)ccafs	p.P563fs	ARHGEF25_ENST00000333972.7_Frame_Shift_Del_p.P602fs|AC025165.8_ENST00000593846.1_RNA|ARHGEF25_ENST00000477314.1_3'UTR|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	563					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CTCCAACTCCAAAAACCCCTC	0.537													9	2871	---	---	---	---					
WDR81	124997	broad.mit.edu	37	17	1631341	1631343	+	In_Frame_Del	DEL	GAG	GAG	-	rs66598941		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr17:1631341_1631343delGAG	ENST00000409644.1	+	1	3088_3090	c.3088_3090delGAG	c.(3088-3090)gagdel	p.E1033del	WDR81_ENST00000309182.5_5'UTR|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000446363.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	305										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGGGCTGCTGAGGAGGAGGAGA	0.695													11	2	---	---	---	---					
ZNF416	55659	broad.mit.edu	37	19	58084238	58084239	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr19:58084238_58084239insA	ENST00000196489.3	-	4	1255_1256	c.1033_1034insT	c.(1033-1035)tgcfs	p.C345fs		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GTGAATTCTGCAATGTTCAATA	0.441													29	78	---	---	---	---					
JAM2	58494	broad.mit.edu	37	21	27012164	27012166	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr21:27012164_27012166delCTG	ENST00000480456.1	+	1	581_583	c.31_33delCTG	c.(31-33)ctgdel	p.L14del	JAM2_ENST00000400532.1_In_Frame_Del_p.L14del|JAM2_ENST00000312957.5_In_Frame_Del_p.L14del|JAM2_ENST00000425221.2_In_Frame_Del_p.L14del	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	14					blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						CCGCCTCCTCCTGCTGCTGCTGC	0.724													2	4	---	---	---	---					
CDC42EP1	11135	broad.mit.edu	37	22	37964409	37964429	+	In_Frame_Del	DEL	CAGCGCCTGCTGCAAACCCCT	CAGCGCCTGCTGCAAACCCCT	-	rs13056859	by1000genomes	TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr22:37964409_37964429delCAGCGCCTGCTGCAAACCCCT	ENST00000249014.4	+	3	1178_1198	c.758_778delCAGCGCCTGCTGCAAACCCCT	c.(757-780)ccagcgcctgctgcaaacccctca>cca	p.APAANPS254del		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	254	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	p.N258_A264delNPSAPAA(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GCAAACCCCCCAGCGCCTGCTGCAAACCCCTCAGCACCTGC	0.665													6	9	---	---	---	---					
SHROOM2	357	broad.mit.edu	37	X	9863548	9863548	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chrX:9863548delC	ENST00000380913.3	+	4	1690	c.1600delC	c.(1600-1602)cggfs	p.R534fs		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	534					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CGAGACAGGACGGTGTTACCC	0.692													2	4	---	---	---	---					
