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
H2AFY2	55506	broad.mit.edu	37	10	71859992	71859992	+	Missense_Mutation	SNP	A	A	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:71859992A>C	ENST00000373255.4	+	7	981	c.717A>C	c.(715-717)aaA>aaC	p.K239N	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	239	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CTGGGGGAAAAGAGTTCTTGG	0.478000													31	84					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885210	88885210	+	Silent	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:88885210C>A	ENST00000319675.3	-	1	1086	c.990G>T	c.(988-990)gcG>gcT	p.A330A		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	330										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGCCCACGGCCGCCACGACTC	0.567000													9	291					2.17888e-05	2.26898e-05	1	1	0
PSG7	5676	broad.mit.edu	37	19	43430840	43430840	+	RNA	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:43430840G>C	ENST00000446844.3	-	0	827				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TTAAGTTATTGATGGTGATGT	0.463000													31	1046					0	0	1	0	0
ZDHHC11	79844	broad.mit.edu	37	5	837564	837564	+	Silent	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:837564G>T	ENST00000283441.8	-	6	1199	c.816C>A	c.(814-816)ctC>ctA	p.L272L	ZDHHC11_ENST00000424784.2_Silent_p.L272L|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	272						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GGTTATTAATGAGATACTCAA	0.493000													14	674					3.5997e-14	3.95681e-14	1	1	0
HADH	3033	broad.mit.edu	37	4	108940775	108940775	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:108940775G>A	ENST00000505878.1	+	5	784	c.511G>A	c.(511-513)Gct>Act	p.A171T	HADH_ENST00000603302.1_Missense_Mutation_p.A167T|HADH_ENST00000403312.1_Missense_Mutation_p.A226T|HADH_ENST00000309522.3_Missense_Mutation_p.A167T|HADH_ENST00000454409.2_Missense_Mutation_p.A171T			Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	167					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	AGACCGATTCGCTGGCCTCCA	0.498000													185	355					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68275942	68275942	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:68275942C>G	ENST00000347230.4	-	4	476	c.338G>C	c.(337-339)gGt>gCt	p.G113A	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.G113A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	113					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGGAATGTCACCTTGGAGGTC	0.458000													11	267					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123021988	123021988	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:123021988G>A	ENST00000462833.1	-	14	3850	c.2638C>T	c.(2638-2640)Cac>Tac	p.H880Y	ADCY5_ENST00000491190.1_Missense_Mutation_p.H513Y|ADCY5_ENST00000309879.5_Missense_Mutation_p.H530Y	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	880					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCCGCCACGTGACACGCGTTG	0.642000													6	212					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10691258	10691258	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:10691258C>G	ENST00000302079.6	-	44	6974	c.6975G>C	c.(6973-6975)aaG>aaC	p.K2325N	PIEZO2_ENST00000285141.4_Missense_Mutation_p.K180N|PIEZO2_ENST00000538948.1_Missense_Mutation_p.K282N|PIEZO2_ENST00000503781.3_Missense_Mutation_p.K2325N|PIEZO2_ENST00000580640.1_Missense_Mutation_p.K2350N			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2325						integral to membrane	ion channel activity										AATTGTAGCTCTTGGTGAGGA	0.488000													107	280					0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8017832	8017832	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:8017832G>A	ENST00000380149.1	-	5	1148	c.1118C>T	c.(1117-1119)aCg>aTg	p.T373M	ALOXE3_ENST00000318227.3_Missense_Mutation_p.T349M|ALOXE3_ENST00000448843.2_Missense_Mutation_p.T217M			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	217	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CAGCGAGATCGTCTTGGTGGC	0.547000													11	202					0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47721004	47721004	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:47721004C>A	ENST00000525123.1	-	8	973	c.688G>T	c.(688-690)Gat>Tat	p.D230Y	AGBL2_ENST00000528244.1_Missense_Mutation_p.D192Y|AGBL2_ENST00000357610.3_Missense_Mutation_p.D230Y|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.D230Y	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	230					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ATACCTGAATCTAATTGATAG	0.323000													6	151					5.9392e-07	6.30329e-07	1	1	0
SDHAP3	0	broad.mit.edu	37	5	1593264	1593264	+	RNA	SNP	C	C	T	rs111700178	by1000genomes	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:1593264C>T	ENST00000436493.2	-	0	361																											AGGGCACATGCCTGACCAAAG	0.557000													12	182					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	by1000genomes	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363000													25	372					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88524482	88524482	+	Silent	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:88524482C>A	ENST00000317501.3	-	14	1856	c.1695G>T	c.(1693-1695)ggG>ggT	p.G565G	NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000394480.1_Intron|NTRK3_ENST00000540489.2_Silent_p.G565G|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000542733.2_Intron	NM_001007156.2	NP_001007157.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	0	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			aagacacttccccactctgga	0.413000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			11	27					3.86212e-05	3.99182e-05	1	1	0
ZNF645	158506	broad.mit.edu	37	X	22292031	22292031	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:22292031C>T	ENST00000323684.1	+	1	967	c.923C>T	c.(922-924)tCg>tTg	p.S308L		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	308	Pro-rich.					intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						ACTCCTAACTCGGTTCGTAGC	0.448000													17	442					0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	40997985	40997985	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:40997985G>A	ENST00000253799.3	+	1	1369	c.1342G>A	c.(1342-1344)Ggt>Agt	p.G448S	AOC2_ENST00000452774.2_Missense_Mutation_p.G448S	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	448					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TTTCTATGGTGGTTTGGCCAG	0.517000													104	226					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	100003867	100003867	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:100003867C>T	ENST00000314594.5	+	11	2634	c.537C>T	c.(535-537)gcC>gcT	p.A179A	R3HCC1L_ENST00000370586.2_Silent_p.A169A|R3HCC1L_ENST00000298999.3_Silent_p.A763A|R3HCC1L_ENST00000370584.3_Silent_p.A763A	NM_001256619.1	NP_001243548.1			R3H domain and coiled-coil containing 1-like																		GGTTGGAAGCCAAGCAACGGG	0.398000													41	167					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235949825	235949825	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:235949825G>A	ENST00000409212.1	+	4	919	c.412G>A	c.(412-414)Gag>Aag	p.E138K	SH3BP4_ENST00000392011.2_Missense_Mutation_p.E138K|SH3BP4_ENST00000344528.4_Missense_Mutation_p.E138K			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	138					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGTAGCCAAGGAGCTGGAGCT	0.507000													28	250					0	0	1	0	0
SMYD5	10322	broad.mit.edu	37	2	73451115	73451115	+	Missense_Mutation	SNP	T	T	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:73451115T>G	ENST00000389501.4	+	10	969	c.924T>G	c.(922-924)ttT>ttG	p.F308L		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	308	SET.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						CTGGCCTCTTTGTGCTTCAGA	0.478000													59	425					0	0	1	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37365423	37365423	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:37365423G>A	ENST00000233057.4	-	8	999	c.677C>T	c.(676-678)tCg>tTg	p.S226L	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.S226L|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.S226L	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	226					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CATAAGCAACGAAGAACTGTT	0.358000													15	192					0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210637926	210637926	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:210637926C>T	ENST00000367010.1	+	8	1161	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C	HHAT_ENST00000413764.2_Missense_Mutation_p.R312C|HHAT_ENST00000261458.3_Missense_Mutation_p.R312C|HHAT_ENST00000308852.6_Missense_Mutation_p.R267C|HHAT_ENST00000541565.1_Missense_Mutation_p.R175C|HHAT_ENST00000367009.1_Missense_Mutation_p.R2C|HHAT_ENST00000391905.3_Missense_Mutation_p.R312C|HHAT_ENST00000545154.1_Missense_Mutation_p.R313C|HHAT_ENST00000545781.1_Missense_Mutation_p.R249C|HHAT_ENST00000537898.1_Missense_Mutation_p.R247C	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	312					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TCTGCTCATGCGCCTGGATGG	0.577000													7	476					0	0	1	0	0
TRMT12	55039	broad.mit.edu	37	8	125463295	125463295	+	Missense_Mutation	SNP	T	T	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:125463295T>G	ENST00000328599.3	+	1	248	c.127T>G	c.(127-129)Ttt>Gtt	p.F43V	TRMT12_ENST00000521443.1_3'UTR	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	43					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCAGAAACTCTTTGATACACA	0.557000													5	259					0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163144827	163144827	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:163144827C>T	ENST00000263642.2	-	5	1308	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	305					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						AGCTGGAGTTCTGGCTCCGGG	0.478000													60	171					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22804704	22804704	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:22804704G>T	ENST00000361524.3	-	4	3326	c.3178C>A	c.(3178-3180)Cac>Aac	p.H1060N	ZNF521_ENST00000538137.2_Missense_Mutation_p.H1060N|ZNF521_ENST00000584787.1_Missense_Mutation_p.H840N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1060					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTTTGGACGTGCTGGCCCCGC	0.502000			T	PAX5	ALL								8	205					1.12685e-05	1.17788e-05	1	1	0
OTUD4	54726	broad.mit.edu	37	4	146073752	146073752	+	Silent	SNP	T	T	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:146073752T>A	ENST00000454497.2	-	11	851	c.714A>T	c.(712-714)gcA>gcT	p.A238A	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Silent_p.A303A	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	302							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTTGAACATCTGCATTCAAAA	0.363000													32	133					0	0	1	0	0
PAPSS1	9061	broad.mit.edu	37	4	108641321	108641321	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:108641321C>T	ENST00000265174.4	-	1	287	c.15G>A	c.(13-15)ggG>ggA	p.G5G	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	5					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TGCACAGGCTCCCGGGGATCT	0.677000													89	250					0	0	1	0	0
NDC1	55706	broad.mit.edu	37	1	54269611	54269611	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:54269611G>A	ENST00000371429.3	-	10	1654	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	NDC1_ENST00000540001.1_Silent_p.L352L|NDC1_ENST00000537333.1_Silent_p.L17L|NDC1_ENST00000234725.8_Silent_p.L237L	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		CTGGTTGGCTGAGGCTGAAAA	0.408000													195	520					0	0	1	0	0
EIF3D	8664	broad.mit.edu	37	22	36915498	36915498	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:36915498C>T	ENST00000216190.8	-	8	1035	c.665G>A	c.(664-666)cGc>cAc	p.R222H	EIF3D_ENST00000541106.1_Missense_Mutation_p.R173H|EIF3D_ENST00000405442.1_Missense_Mutation_p.R222H	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	222						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						GTGGAAGATGCGCTTGATGCT	0.567000													99	293					0	0	1	0	0
CASP2	835	broad.mit.edu	37	7	143002066	143002066	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:143002066G>T	ENST00000310447.5	+	11	1502	c.1261G>T	c.(1261-1263)Gct>Tct	p.A421S	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	421					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					GGAAGGTTATGCTCCTGGCAC	0.552000													68	169					1.77791e-30	1.99385e-30	1	1	0
CLUL1	27098	broad.mit.edu	37	18	641458	641458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:641458G>T	ENST00000581619.1	+	7	2048	c.1201G>T	c.(1201-1203)Gag>Tag	p.E401*	CLUL1_ENST00000540035.1_Nonsense_Mutation_p.E428*|CLUL1_ENST00000338387.7_Nonsense_Mutation_p.E376*|CLUL1_ENST00000579494.1_Nonsense_Mutation_p.E376*|CLUL1_ENST00000400606.2_Nonsense_Mutation_p.E376*|C18orf56_ENST00000585033.1_Intron			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	376					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						CTATCTGGTGGAGAAGATGAG	0.493000													6	345					0.0293803	0.029702	1	1	0
HTR5A	3361	broad.mit.edu	37	7	154862970	154862970	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:154862970G>A	ENST00000287907.2	+	1	937	c.361G>A	c.(361-363)Gac>Aac	p.D121N	AC093726.4_ENST00000543018.1_Missense_Mutation_p.S15L|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_Missense_Mutation_p.S15L	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	121						integral to plasma membrane	serotonin receptor activity	p.D121N(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GATCGCGTGCGACGTGCTTTG	0.672000													15	205					0	0	1	0	0
RNF26	79102	broad.mit.edu	37	11	119206987	119206987	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:119206987C>T	ENST00000311413.4	+	1	1751	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	385							zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		TCTGCCAGGACCAGAGCAAGA	0.597000													12	314					0	0	1	0	0
STAC3	246329	broad.mit.edu	37	12	57642585	57642585	+	Splice_Site	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:57642585G>A	ENST00000332782.2	-	4	537	c.334_splice	c.e4-1	p.L112_splice	STAC3_ENST00000554578.1_Splice_Site_p.L73_splice|STAC3_ENST00000546246.2_Intron	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	112					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						ACTTGTTGTTGACTTGGGAAA	0.463000													322	335					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62626750	62626750	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:62626750G>A	ENST00000535781.1	+	6	797	c.686G>A	c.(685-687)gGa>gAa	p.G229E	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	229					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					ATGACGCCAGGACTGATGACA	0.522000													61	113					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49304939	49304939	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:49304939G>A	ENST00000559471.1	-	12	1900	c.1637C>T	c.(1636-1638)aCa>aTa	p.T546I	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.T501I	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	546										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ATTAAAGGATGTCAAACAGGG	0.348000													10	333					0	0	1	0	0
C7orf43	55262	broad.mit.edu	37	7	99755385	99755385	+	Splice_Site	SNP	T	T	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:99755385T>A	ENST00000316937.3	-	3	693	c.507_splice	c.e3-1	p.I170_splice	C7orf43_ENST00000457641.1_5'UTR	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	170										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCACTACAATCTGTCAAGAG	0.527000											OREG0018198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	112	416					0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25717263	25717263	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:25717263G>A	ENST00000349320.3	-	7	1118	c.730C>T	c.(730-732)Cac>Tac	p.H244Y	RHCE_ENST00000374352.2_Missense_Mutation_p.H244Y|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000243186.6_Missense_Mutation_p.H260Y|RHCE_ENST00000413854.1_Missense_Mutation_p.H260Y|RHCE_ENST00000349438.4_Missense_Mutation_p.H260Y|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000425135.1_Missense_Mutation_p.H260Y|RHCE_ENST00000294413.7_Missense_Mutation_p.H260Y			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	260						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CTTTGGGGGTGAGCCAAGGAT	0.537000													41	405					0	0	1	0	0
SMURF2P1	0	broad.mit.edu	37	17	28935540	28935540	+	RNA	SNP	G	G	A	rs144598799	by1000genomes	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:28935540G>A	ENST00000578265.1	+	0	193																											CGTTGTGTTCGTCTTTTTCCA	0.363000													4	136					0	0	1	0	0
FBXL2	25827	broad.mit.edu	37	3	33425651	33425651	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:33425651C>T	ENST00000484457.1	+	14	1213	c.1122C>T	c.(1120-1122)taC>taT	p.Y374Y	FBXL2_ENST00000507198.1_Silent_p.Y306Y|FBXL2_ENST00000542085.1_Silent_p.Y84Y|FBXL2_ENST00000538892.1_Silent_p.Y306Y|FBXL2_ENST00000538181.1_Silent_p.Y290Y|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_Silent_p.Y115Y	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	374					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TCGAGCTGTACGACTGCCAGC	0.582000													4	174					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25272886	25272886	+	Missense_Mutation	SNP	A	A	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:25272886A>G	ENST00000218548.6	+	12	1954	c.1621A>G	c.(1621-1623)Acc>Gcc	p.T541A	ATP12A_ENST00000381946.3_Missense_Mutation_p.T535A	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	535					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GAAATGCAGCACCATCATGAT	0.602000													23	357					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572111	76572111	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:76572111C>T	ENST00000307431.8	+	20	3476	c.3091C>T	c.(3091-3093)Cat>Tat	p.H1031Y	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.H959Y|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.H983Y|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.H1035Y	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1032					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGCTTCATTTCATGGTGATAT	0.368000													49	161					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16953753	16953753	+	RNA	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:16953753G>A	ENST00000412962.1	-	0	508																											AGGACTGAGCGCTTCCCTTCC	0.632000													19	267					0	0	1	0	0
GNB1	2782	broad.mit.edu	37	1	1722012	1722012	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:1722012C>T	ENST00000378609.4	-	9	852	c.521G>A	c.(520-522)gGc>gAc	p.G174D		NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	174					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CGTCTGCTGGCCGGTCTCGAT	0.542000													8	128					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47686068	47686068	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:47686068C>T	ENST00000397708.1	-	12	3056	c.2802G>A	c.(2800-2802)ctG>ctA	p.L934L	MCM3AP_ENST00000291688.1_Silent_p.L934L			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	934					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CAGACCGGTTCAGCTCCACAC	0.567000													21	863					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42018283	42018283	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:42018283G>T	ENST00000395925.3	-	11	1646	c.1562C>A	c.(1561-1563)tCa>tAa	p.S521*	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	521					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTGCTCTCTTGAGCAGTCCAG	0.453000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				108	201					6.84326e-50	7.80075e-50	1	1	0
OR52N5	390075	broad.mit.edu	37	11	5799446	5799446	+	Missense_Mutation	SNP	C	C	T	rs144845456		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:5799446C>T	ENST00000317093.2	-	1	451	c.419G>A	c.(418-420)cGt>cAt	p.R140H	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGTAGCATAACGCAAAGGGTA	0.502000													22	60					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124336080	124336080	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:124336080C>T	ENST00000338354.3	+	7	555	c.449C>T	c.(448-450)tCa>tTa	p.S150L	DMBT1_ENST00000368955.3_Missense_Mutation_p.S150L|DMBT1_ENST00000368909.3_Missense_Mutation_p.S150L|DMBT1_ENST00000344338.3_Missense_Mutation_p.S150L|DMBT1_ENST00000359586.6_Missense_Mutation_p.S150L|DMBT1_ENST00000330163.4_Missense_Mutation_p.S150L|DMBT1_ENST00000368956.2_Missense_Mutation_p.S150L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	150	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGGCCATGTCAGCTCCAGGA	0.602000													31	872					0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180793903	180793903	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:180793903G>T	ENST00000367590.4	+	8	976	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	XPR1_ENST00000367589.3_Nonsense_Mutation_p.E260*	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	260						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ATTTAAACTTGAAACAGATAG	0.328000													62	178					2.19297e-23	2.43957e-23	1	1	0
PARD3B	117583	broad.mit.edu	37	2	206166502	206166502	+	Splice_Site	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:206166502G>A	ENST00000462231.1	+	19	2839		c.e19-1		PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000406610.2_Intron			Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta						cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TCTGTACTCAGAAAAAAGCGC	0.488000													47	123					0	0	1	0	0
NEGR1	257194	broad.mit.edu	37	1	72400859	72400859	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:72400859C>G	ENST00000357731.4	-	2	551	c.312G>C	c.(310-312)caG>caC	p.Q104H	NEGR1_ENST00000306821.3_5'UTR|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.Q102H	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	104	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CATTCTGTATCTGGAGGCTGT	0.443000													7	217					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78211517	78211517	+	RNA	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557000													6	533					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8341947	8341947	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:8341947C>T	ENST00000381196.4	-	37	5236	c.4693G>A	c.(4693-4695)Gtc>Atc	p.V1565I	PTPRD_ENST00000537002.1_Missense_Mutation_p.V1155I|PTPRD_ENST00000540109.1_Missense_Mutation_p.V1565I|PTPRD_ENST00000355233.5_Missense_Mutation_p.V1159I|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1543I|PTPRD_ENST00000397611.3_Missense_Mutation_p.V1155I|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1552I|PTPRD_ENST00000397617.3_Missense_Mutation_p.V1158I|PTPRD_ENST00000397606.3_Missense_Mutation_p.V1158I|PTPRD_ENST00000486161.1_Missense_Mutation_p.V1158I|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1565I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1565	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V1565I(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCATCTATGACGATGAAGCAA	0.358000										TSP Lung(15;0.13)			5	178					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1																						CTCTCTCCTGTGGGAGGGGGG	0.632000													4	72					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54956406	54956406	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:54956406C>T	ENST00000173898.7	+	12	3361	c.3249C>T	c.(3247-3249)gtC>gtT	p.V1083V	TRO_ENST00000375041.2_Silent_p.V686V|TRO_ENST00000420798.2_Silent_p.V614V|TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1083	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GTGGTGCTGTCAGCACCAGTG	0.592000													9	195					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86313406	86313406	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:86313406G>T	ENST00000370571.2	-	39	3770	c.3404C>A	c.(3403-3405)cCt>cAt	p.P1135H	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1135H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1135	Collagen-like 11.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTTCCAGGAGGACCTCTGCT	0.428000													136	238					9.01934e-54	1.03238e-53	1	1	0
LOXL1	4016	broad.mit.edu	37	15	74239478	74239478	+	Missense_Mutation	SNP	G	G	A	rs141057976		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:74239478G>A	ENST00000261921.7	+	4	1746	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K		NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	474	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						GAAGGTGGCCGAGGGCCACAA	0.577000													40	149					0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41032648	41032648	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:41032648G>A	ENST00000380620.3	+	5	754	c.162G>A	c.(160-162)caG>caA	p.Q54Q	B3GALT5_ENST00000398714.2_Silent_p.Q54Q|B3GALT5_ENST00000380618.1_Silent_p.Q54Q|B3GALT5_ENST00000343118.4_Silent_p.Q54Q|AF064860.5_ENST00000416555.1_RNA			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	54					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				ACTGCAGGCAGACACCTCCCT	0.502000													61	225					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51772810	51772810	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:51772810G>A	ENST00000251076.5	-	24	6780	c.6493C>T	c.(6493-6495)Cat>Tat	p.H2165Y	DMXL2_ENST00000543779.2_Missense_Mutation_p.H2165Y|DMXL2_ENST00000449909.3_Missense_Mutation_p.H1529Y|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2165						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGGGCCCCATGAAGGCTACAG	0.428000													6	345					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142142485	142142485	+	Splice_Site	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:142142485C>T	ENST00000264951.4	-	6	745		c.e6-1		XRN1_ENST00000544157.1_Splice_Site|XRN1_ENST00000392981.2_Splice_Site|XRN1_ENST00000463916.1_Splice_Site	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CAAGCATAATCTGTTGAAAAA	0.279000													33	134					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56538857	56538857	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:56538857G>A	ENST00000390649.3	+	7	1258	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	420	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCTCAAGTCAGAGGTCGTGTC	0.547000													4	96					0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129321169	129321169	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:129321169C>T	ENST00000281437.4	+	4	808	c.712C>T	c.(712-714)Cag>Tag	p.Q238*	BARX2_ENST00000526127.1_Nonsense_Mutation_p.Q93*|BARX2_ENST00000531946.1_Nonsense_Mutation_p.Q116*	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	238										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GGAGCCCTCTCAGGGGCAGGA	0.582000													5	252					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65310517	65310517	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:65310517C>T	ENST00000342505.4	-	16	2419	c.2171G>A	c.(2170-2172)cGt>cAt	p.R724H	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	724	Protein kinase 1.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GATGCCCTCACGGGCCAGGAG	0.542000			Mis		ALL								10	211					0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99169316	99169316	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:99169316G>A	ENST00000074304.5	+	15	1639	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	INPP4A_ENST00000409851.3_Missense_Mutation_p.A411T|INPP4A_ENST00000409540.3_Missense_Mutation_p.A416T|INPP4A_ENST00000545415.1_Missense_Mutation_p.A416T|INPP4A_ENST00000409016.3_Missense_Mutation_p.A416T|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000523221.1_Missense_Mutation_p.A416T	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	416					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GGAGATCATCGCCCAGATCAA	0.517000													8	94					0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98678635	98678635	+	Silent	SNP	A	A	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:98678635A>G	ENST00000288985.7	+	6	1415	c.1110A>G	c.(1108-1110)agA>agG	p.R370R	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Silent_p.R181R	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	370					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										CCATGCAAAGACTTGCCAAAA	0.483000													6	199					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	633027	633027	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:633027C>A	ENST00000321878.5	+	11	1897	c.1738C>A	c.(1738-1740)Cag>Aag	p.Q580K	PIGQ_ENST00000409527.2_Missense_Mutation_p.Q580K|PIGQ_ENST00000026218.5_Missense_Mutation_p.A559E	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	0					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				AGGGGACAAGCAGGACTGAGG	0.667000													22	437					3.5997e-14	3.95681e-14	1	1	0
ABLIM1	3983	broad.mit.edu	37	10	116331054	116331054	+	Splice_Site	SNP	A	A	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:116331054A>C	ENST00000369252.4	-	4	795		c.e4+1		ABLIM1_ENST00000533213.2_Splice_Site|ABLIM1_ENST00000277895.5_Splice_Site	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1						axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CGGGGCACTTACTGCTGGAGA	0.527000													45	231					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109697313	109697313	+	Silent	SNP	A	A	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:109697313A>G	ENST00000465301.2	+	3	3714	c.3468A>G	c.(3466-3468)gaA>gaG	p.E1156E	RGAG1_ENST00000540313.1_Silent_p.E1156E	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1156										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AAGAGCAGGAAGCAGCCCGGG	0.512000													35	288					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413456	124413456	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:124413456C>T	ENST00000306842.2	-	1	119	c.95G>A	c.(94-96)gGt>gAt	p.G32D		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CGTGTAGAAACCCAGAAACAG	0.512000													8	350					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		ACACTATGTCGAAAAGTGTTT	0.532000		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)			65	59					0	0	1	0	0
SNHG14	0	broad.mit.edu	37	15	25446513	25446513	+	RNA	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:25446513G>A	ENST00000424208.1	+	0	1988				SNHG14_ENST00000424333.1_RNA|SNORD115-17_ENST00000364612.1_RNA	NR_003305.1																						GAGAGGTGATGACTTAAAAAT	0.507000													35	762					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													8	659					0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34182562	34182562	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:34182562G>A	ENST00000435224.2	-	11	2709	c.2285C>T	c.(2284-2286)tCg>tTg	p.S762L	ABTB2_ENST00000298992.2_Missense_Mutation_p.S576L	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	576							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTGCACCACCGAGTACCGCGA	0.612000													5	104					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7796815	7796815	+	Missense_Mutation	SNP	G	G	C	rs150799852		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:7796815G>C	ENST00000380358.4	+	5	899	c.898G>C	c.(898-900)Gcc>Ccc	p.A300P	CHD3_ENST00000358181.4_Missense_Mutation_p.A241P|CHD3_ENST00000330494.7_Missense_Mutation_p.A241P	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	241					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	p.A241P(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CGGACCCCCCGCCCTTCCACC	0.632000													12	45					0	0	1	0	0
NXT2	55916	broad.mit.edu	37	X	108780167	108780167	+	Splice_Site	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:108780167C>T	ENST00000218004.1	+	2	199	c.95_splice	c.e2-1	p.P33_splice	NXT2_ENST00000372106.1_5'UTR|NXT2_ENST00000372107.1_5'UTR	NM_018698.4	NP_061168.2	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	0	NTF2.				mRNA transport|protein transport	cytoplasm|nucleus				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						ATTCCGCAGCCCTGCGGACCG	0.572000													14	101					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47324868	47324868	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:47324868T>C	ENST00000396220.1	-	6	735	c.713A>G	c.(712-714)aAt>aGt	p.N238S	PREX1_ENST00000371941.3_Missense_Mutation_p.N238S			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	238	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTTGGTCTCATTGATGTTGGA	0.627000													332	659					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5182355	5182355	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:5182355C>A	ENST00000274181.7	+	4	838	c.700C>A	c.(700-702)Cac>Aac	p.H234N	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.H234N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	234					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCAACCCCTGCACAGCAGCGA	0.532000													115	218					3.92893e-35	4.42404e-35	1	1	0
MYO9B	4650	broad.mit.edu	37	19	17295729	17295729	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:17295729G>A	ENST00000595618.1	+	17	2581	c.2429G>A	c.(2428-2430)cGc>cAc	p.R810H	MYO9B_ENST00000594824.1_Missense_Mutation_p.R810H|MYO9B_ENST00000397274.2_Missense_Mutation_p.R810H	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	810	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	p.R810H(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CTGCACGACCGCACCACCAAG	0.582000													5	295					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104640521	104640521	+	Silent	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:104640521G>C	ENST00000304883.2	-	1	452	c.312C>G	c.(310-312)ctC>ctG	p.L104L		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	104						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGATGACGATGAGATTTCCCA	0.592000													12	310					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111635301	111635301	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:111635301G>A	ENST00000369680.4	-	15	1495	c.1247C>T	c.(1246-1248)tCg>tTg	p.S416L	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.S345L|XPNPEP1_ENST00000322238.8_Intron|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.S459L	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	416					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TTGAGCACCCGAGTCAATAAG	0.448000													6	182					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189868505	189868505	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:189868505G>A	ENST00000304636.3	+	38	2823	c.2653G>A	c.(2653-2655)Ggt>Agt	p.G885S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	885	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTCCTCCTGGTAGTAATGT	0.363000													9	244					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95538657	95538657	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:95538657C>T	ENST00000297591.5	-	8	1890	c.1815G>A	c.(1813-1815)gtG>gtA	p.V605V	KIAA1429_ENST00000421249.2_Silent_p.V605V|KIAA1429_ENST00000437199.1_Silent_p.V605V	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	605					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TAGAAGCTTCCACCTCATTTT	0.383000													31	461					0	0	1	0	0
SLC7A10	56301	broad.mit.edu	37	19	33699875	33699875	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:33699875G>A	ENST00000253188.3	-	11	1640	c.1494C>T	c.(1492-1494)gaC>gaT	p.D498D		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	498					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CTTCGGGGGCGTCCTGGGGGT	0.602000													46	108					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123010065	123010065	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:123010065G>A	ENST00000462833.1	-	18	4434	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F	ADCY5_ENST00000491190.1_Silent_p.F732F|ADCY5_ENST00000309879.5_Silent_p.F724F	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1074	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.F1074L(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGATGGAGGCGAACATGACCG	0.577000													57	250					0	0	1	0	0
TUBBP5	0	broad.mit.edu	37	9	141070915	141070915	+	RNA	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:141070915C>T	ENST00000503395.1	+	0	1690																		p.T178T(1)									TGTCAGACACCGTGGTGGAGC	0.522000													5	241					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73205309	73205309	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:73205309C>T	ENST00000286657.4	-	5	799	c.763G>A	c.(763-765)Gat>Aat	p.D255N		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	255					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATATTGTAATCGTTTTCTCCC	0.498000													21	754					0	0	1	0	0
HIST1H2AL	8332	broad.mit.edu	37	6	27833264	27833264	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:27833264C>T	ENST00000357320.2	+	1	231	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	44					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						CTGAGCGGGTCGGGGCCGGCG	0.692000													20	384					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266124	41266124	+	Missense_Mutation	SNP	A	A	G	rs121913412		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:41266124A>G	ENST00000349496.5	+	3	401	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TGGTGCCACTACCACAGCTCC	0.507000	T41A(CCK81_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				78	74					0	0	1	0	0
EFCAB1	79645	broad.mit.edu	37	8	49643125	49643125	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:49643125C>A	ENST00000433756.1	-	2	296	c.137G>T	c.(136-138)cGa>cTa	p.R46L	EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000262103.3_Missense_Mutation_p.R98L|EFCAB1_ENST00000523092.1_Missense_Mutation_p.R46L	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	98							calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CAAAGATCCTCGAAGAAACAG	0.343000													14	94					4.3838e-07	4.67043e-07	1	1	0
GLYATL2	219970	broad.mit.edu	37	11	58605742	58605742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:58605742G>A	ENST00000287275.1	-	3	568	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Nonsense_Mutation_p.Q60*	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	60						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	ACCTGTTTCTGAGGCCGGGTA	0.463000													4	168					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64536271	64536271	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:64536271G>A	ENST00000355086.3	+	22	3601	c.3077G>A	c.(3076-3078)cGt>cAt	p.R1026H	SRGAP1_ENST00000357825.3_Missense_Mutation_p.R1003H|SRGAP1_ENST00000543397.1_Missense_Mutation_p.R963H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1026					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGATTCGACGTAGCACGAGC	0.562000													14	258					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133887563	133887563	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:133887563G>T	ENST00000409261.1	-	6	701	c.328C>A	c.(328-330)Cag>Aag	p.Q110K	NCKAP5_ENST00000409213.1_Missense_Mutation_p.Q110K|NCKAP5_ENST00000405974.3_Missense_Mutation_p.Q110K|NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q110K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	110							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAGAACTGCTGCTGCAAGCTA	0.488000													16	34					1.5739e-10	1.71642e-10	1	1	0
TRAF3	7187	broad.mit.edu	37	14	103372120	103372120	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:103372120G>A	ENST00000560371.1	+	11	1923	c.1706G>A	c.(1705-1707)tGa>tAa	p.*569*	TRAF3_ENST00000347662.4_Silent_p.*544*|TRAF3_ENST00000539721.1_Silent_p.*486*|TRAF3_ENST00000392745.2_Silent_p.*569*|TRAF3_ENST00000351691.5_Silent_p.*544*	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	0					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		CCCGATCCCTGATAAGTAGCT	0.453000													30	66					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57595393	57595393	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:57595393G>A	ENST00000243077.3	+	66	10925	c.10459G>A	c.(10459-10461)Gcc>Acc	p.A3487T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3487	LDL-receptor class A 24.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGATGAGCCCGCCAACTGCAG	0.642000													4	192					0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82921451	82921451	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:82921451G>A	ENST00000393389.3	+	4	1372	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	ANKRD42_ENST00000260047.6_Missense_Mutation_p.R147Q|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000531895.1_Missense_Mutation_p.R147Q|ANKRD42_ENST00000393392.2_Missense_Mutation_p.R119Q|ANKRD42_ENST00000526731.1_Missense_Mutation_p.R147Q|ANKRD42_ENST00000528722.1_Missense_Mutation_p.R34Q|ANKRD42_ENST00000533342.1_Missense_Mutation_p.R147Q			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	119										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ATAATGCTCCGAAGTGGAGTG	0.408000													10	416					0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232104753	232104753	+	Splice_Site	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:232104753C>T	ENST00000349938.4	+	9	1072	c.879_splice	c.e9+1	p.T293_splice	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	293							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		AGGCCTGGGACGGTGAGGCTC	0.522000													41	45					0	0	1	0	0
CYP2R1	120227	broad.mit.edu	37	11	14913531	14913531	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:14913531C>G	ENST00000334636.5	-	1	267	c.221G>C	c.(220-222)gGa>gCa	p.G74A		NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	74					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	CTGTACCTCTCCGTACACCTG	0.682000													37	61					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343000													15	268					0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30433095	30433095	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:30433095C>T	ENST00000375978.3	-	1	325	c.251G>A	c.(250-252)cGc>cAc	p.R84H		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	84					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GCCTGGCTTGCGGTCATCGCG	0.647000													5	374					0	0	1	0	0
NHLRC2	374354	broad.mit.edu	37	10	115663395	115663395	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:115663395G>A	ENST00000369301.3	+	9	1816	c.1604G>A	c.(1603-1605)gGa>gAa	p.G535E		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	535					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		AATGAACCAGGAGGCTTGTGT	0.343000													12	755					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24659805	24659805	+	RNA	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:24659805C>G	ENST00000414583.2	+	0	3330					NR_003714.1																						TGCTCCCTATCTGCGCACCCG	0.607000													4	32					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37571341	37571341	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:37571341G>A	ENST00000300651.6	-	16	1660	c.1437C>T	c.(1435-1437)ctC>ctT	p.L479L	MED1_ENST00000394287.3_Silent_p.L479L	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	479	Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L479L(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCCCTTTGTAGAGTTTACAGC	0.408000										HNSCC(31;0.082)			26	849					0	0	1	0	0
POPDC3	64208	broad.mit.edu	37	6	105609437	105609437	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:105609437G>A	ENST00000254765.3	-	2	626	c.348C>T	c.(346-348)ttC>ttT	p.F116F	BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000580511.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	116						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CCAGGGGCTGGAAAAGGGAGC	0.443000													219	228					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													5	50					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106111641	106111641	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:106111641C>T	ENST00000357242.5	+	18	2921	c.2747C>T	c.(2746-2748)tCt>tTt	p.S916F	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.S910F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	916						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAAGTGAAATCTAAGGATGCT	0.343000													8	172					0	0	1	0	0
RP11-483E23.2	0	broad.mit.edu	37	15	28599954	28599954	+	RNA	SNP	A	A	G	rs144345425	by1000genomes	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:28599954A>G	ENST00000568624.1	-	0	452																											GGCTGTAGTAAAGTGCCATCT	0.478000													5	359					0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47266759	47266759	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:47266759G>A	ENST00000311191.6	+	8	1332	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	LRCH1_ENST00000389798.3_Missense_Mutation_p.R368H|LRCH1_ENST00000389797.3_Missense_Mutation_p.R368H	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	368										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TCGTGCCATCGCCTTAGCCCC	0.408000													51	178					0	0	1	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													5	130					0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66210374	66210374	+	Translation_Start_Site	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:66210374G>A	ENST00000395614.1	-	0	2076				MEGF11_ENST00000360698.4_Silent_p.N672N|MEGF11_ENST00000395625.2_Silent_p.N597N|MEGF11_ENST00000409699.2_Silent_p.N672N|MEGF11_ENST00000288745.3_Silent_p.N597N|MEGF11_ENST00000422354.1_Silent_p.N672N			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11							basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCAGGTCCCGTTGTTGGCAC	0.612000													35	143					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44828152	44828152	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:44828152C>G	ENST00000372262.3	-	7	1733	c.1333G>C	c.(1333-1335)Gat>Cat	p.D445H	CDH22_ENST00000537909.1_Missense_Mutation_p.D445H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	445	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GTGTCCGCATCGATATCGAAG	0.637000													12	112					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433869	40433869	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:40433869G>A	ENST00000221347.6	-	2	407	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	134	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGATGGGCCGCAGCAGTGTC	0.597000													5	245					0	0	1	0	0
PCDHB18	0	broad.mit.edu	37	5	140616014	140616014	+	RNA	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:140616014C>T	ENST00000526308.1	+	0	2077					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CGCCAGGCTGCTGAGCGAGCG	0.711000													142	220					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623429	100623429	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:100623429G>T	ENST00000317233.4	-	6	773	c.538C>A	c.(538-540)Cag>Aag	p.Q180K	AFF3_ENST00000409579.1_Missense_Mutation_p.Q205K|AFF3_ENST00000409236.1_Missense_Mutation_p.Q180K|AFF3_ENST00000356421.2_Missense_Mutation_p.Q205K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	180					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCCCGAGGCTGCTGTCTGCCA	0.582000													16	265					6.31663e-08	6.7818e-08	1	1	0
PNKD	25953	broad.mit.edu	37	2	219204548	219204548	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:219204548C>T	ENST00000273077.4	+	3	330	c.279C>T	c.(277-279)taC>taT	p.Y93Y	PNKD_ENST00000258362.3_Silent_p.Y69Y|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000436005.2_Silent_p.Y33Y	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	93						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTCTTCTACCGACAGCAGC	0.607000													5	132					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40900573	40900573	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:40900573C>T	ENST00000324001.7	-	7	3956	c.3686G>A	c.(3685-3687)cGa>cAa	p.R1229Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1229	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGTGCCTCTCGGCTTAGCCC	0.677000													11	361					0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24530760	24530760	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:24530760C>T	ENST00000342740.5	+	27	2513	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	787								p.R787W(3)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGTGGCCATGCGGGTGGCCGA	0.612000													5	117					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16959698	16959698	+	RNA	SNP	G	G	A	rs9730434	by1000genomes	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:16959698G>A	ENST00000412962.1	-	0	74																		p.H56H(4)									GGTCCTTCTCGTGGAGCACCT	0.657000													23	176					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171510042	171510042	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:171510042G>A	ENST00000176763.5	-	11	2075	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	578							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCTGGTTCCGATGCTCTTCT	0.478000													16	287					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70681816	70681816	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:70681816G>A	ENST00000377844.4	-	1	775	c.16C>T	c.(16-18)Cga>Tga	p.R6*	ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	6					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AAGTCTTTTCGCCCAGAGCCT	0.647000													42	85					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531971	50531971	+	Missense_Mutation	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:50531971G>C	ENST00000374144.3	+	3	1669	c.1381G>C	c.(1381-1383)Gac>Cac	p.D461H	C10orf71_ENST00000323868.4_Missense_Mutation_p.D461H			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	461			D -> A (in dbSNP:rs45554335).							endometrium(1)	1						GGATTCAGCAGACAGCCAGCC	0.542000													55	175					0	0	1	0	0
CD96	0	broad.mit.edu	37	3	111286413	111286413	+	Missense_Mutation	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:111286413G>C	ENST00000352690.4	+	3	702	c.462G>C	c.(460-462)gaG>gaC	p.E154D	CD96_ENST00000438817.2_Missense_Mutation_p.E154D|CD96_ENST00000283285.5_Missense_Mutation_p.E154D	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	154					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TAGAAATAGAGATAAATCAGA	0.368000									Opitz Trigonocephaly syndrome				8	158					0	0	1	0	0
MRPS30	10884	broad.mit.edu	37	5	44815301	44815301	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:44815301C>T	ENST00000507110.1	+	5	1355	c.1317C>T	c.(1315-1317)aaC>aaT	p.N439N		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	439					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TGTTGGAAAACTGAAAAAGCA	0.294000													7	176					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													6	107					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3730073	3730073	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:3730073C>T	ENST00000541714.2	+	4	668	c.206C>T	c.(205-207)gCc>gTc	p.A69V	TJP3_ENST00000589378.1_Missense_Mutation_p.A78V|TJP3_ENST00000382008.3_Missense_Mutation_p.A69V|TJP3_ENST00000262968.9_Missense_Mutation_p.A88V|TJP3_ENST00000587686.1_Missense_Mutation_p.A88V|TJP3_ENST00000539908.2_Missense_Mutation_p.A33V	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	69	PDZ 1.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGAGAATGCCACCTCCGCG	0.597000													5	330					0	0	1	0	0
SPATA31C1	0	broad.mit.edu	37	9	90535452	90535452	+	RNA	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:90535452C>T	ENST00000602681.1	+	0	1356																											GCCCCTCACCCGAGCCACCTG	0.632000													64	853					0	0	1	0	0
SPDYA	245711	broad.mit.edu	37	2	29052132	29052132	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:29052132C>T	ENST00000334056.5	+	6	688	c.499C>T	c.(499-501)Ctc>Ttc	p.L167F	SPDYA_ENST00000379579.4_Missense_Mutation_p.L167F|SPDYA_ENST00000462832.1_3'UTR	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN	speedy/RINGO cell cycle regulator family member A	167	Speedy/Ringo box; Required for CDK- binding (By similarity).				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					AAGGGACCAGCTCTGGGATAG	0.348000													8	237					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													6	134					0.00198382	0.00201289	1	1	0
DACH1	1602	broad.mit.edu	37	13	72049296	72049296	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:72049296G>A	ENST00000305425.4	-	10	2488	c.2066C>T	c.(2065-2067)aCa>aTa	p.T689I	DACH1_ENST00000359684.2_Missense_Mutation_p.T741I|DACH1_ENST00000354591.4_Missense_Mutation_p.T487I|DACH1_ENST00000313174.7_Missense_Mutation_p.T541I	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	739	DACHbox-C.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TTCAGCATCTGTTCTGCCGCC	0.423000													53	155					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67799612	67799612	+	Missense_Mutation	SNP	A	A	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:67799612A>C	ENST00000544246.1	-	2	3652	c.2961T>G	c.(2959-2961)agT>agG	p.S987R	PCDH9_ENST00000377865.2_Missense_Mutation_p.S987R|PCDH9_ENST00000328454.5_Missense_Mutation_p.S987R|PCDH9_ENST00000456367.1_Missense_Mutation_p.S987R|PCDH9_ENST00000377861.3_Missense_Mutation_p.S987R	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	987					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGTGATCTGAACTAGTGGAAG	0.493000													98	223					0	0	1	0	0
CCL4L2	388372	broad.mit.edu	37	17	34641448	34641448	+	Splice_Site	SNP	A	A	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:34641448A>G	ENST00000394465.2	+	3	508		c.e3-1		TBC1D3H_ENST00000400684.4_Intron|CCL4L2_ENST00000482104.1_3'UTR|CCL4L2_ENST00000339270.6_Splice_Site|TBC1D3H_ENST00000535446.1_Intron|TBC1D3C_ENST00000451448.2_Intron|TBC1D3C_ENST00000308078.7_Intron			Q8NHW4	CC4L_HUMAN	chemokine (C-C motif) ligand 4-like 2						chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity	p.?(1)		endometrium(1)	1		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTGTTCTACAGATTCCAAAC	0.522000													7	693					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345756	33345756	+	Silent	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:33345756T>C	ENST00000374796.2	-	8	3365	c.795A>G	c.(793-795)caA>caG	p.Q265Q	NCOA6_ENST00000359003.2_Silent_p.Q265Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	265	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q265Q(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gttgttgttgttgctgctgct	0.537000													6	282					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373000													15	465					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427830	3427830	+	RNA	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:3427830G>A	ENST00000529482.1	+	0	947																											TGTGTGTGCCGTGAACTTCAA	0.582000													9	191					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195395402	195395402	+	RNA	SNP	C	C	A	rs149044725	by1000genomes	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:195395402C>A	ENST00000445430.1	+	0	809																											TACGGGCGCACCTACTTGAGC	0.597000													8	185					1.33834e-09	1.4538e-09	1	1	0
FAM86A	196483	broad.mit.edu	37	16	5141882	5141882	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:5141882G>A	ENST00000427587.4	-	4	323	c.255C>T	c.(253-255)caC>caT	p.H85H	FAM86A_ENST00000458008.4_Intron|FAM86A_ENST00000587133.1_Intron	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	85										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						AAGGCTCTGTGTGGACAGCCT	0.547000													66	166					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215850	20215850	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:20215850G>A	ENST00000331723.1	+	1	264	c.264G>A	c.(262-264)caG>caA	p.Q88Q		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTTCCTACAGCAGGGCAAGA	0.453000													117	393					0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65471603	65471603	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:65471603C>G	ENST00000286574.4	-	3	694	c.320G>C	c.(319-321)cGc>cCc	p.R107P		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	107	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		ATCCAGGGAGCGCAAGGACAG	0.498000			T	HMGA2	pleomorphic salivary gland adenoma								40	53					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119962536	119962536	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:119962536G>A	ENST00000464295.1	-	3	629	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L	GPR156_ENST00000461057.1_Silent_p.L62L|GPR156_ENST00000315843.3_Silent_p.L62L			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	62						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGTATCAGCAGAAGTCCACAG	0.428000													110	246					0	0	1	0	0
MT-RNR2	0	broad.mit.edu	37	MT	1720	1720	+	RNA	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrM:1720C>A	ENST00000387347.2	+	0	50					NR_039705.1																						AGACAACCTTAGCCAAACCAT	0.413000													3	6					0.150653	0.151199	1	1	0
PLIN5	440503	broad.mit.edu	37	19	4523796	4523796	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:4523796G>A	ENST00000381848.3	-	8	1216	c.1136C>T	c.(1135-1137)gCg>gTg	p.A379V		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	379						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						AAGGATGGGCGCGAAGGGTCC	0.751000													4	165					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18788739	18788739	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:18788739C>A	ENST00000406451.3	+	14	2162	c.2012C>A	c.(2011-2013)aCt>aAt	p.T671N	HDAC9_ENST00000441542.2_Missense_Mutation_p.T674N|HDAC9_ENST00000432645.2_Missense_Mutation_p.T671N|HDAC9_ENST00000401921.1_Missense_Mutation_p.T630N	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	671	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTGCAAGAAACTGGGCTGCTA	0.438000													22	64					1.28384e-07	1.37306e-07	1	1	0
SDHAP1	0	broad.mit.edu	37	3	195711466	195711466	+	RNA	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:195711466G>T	ENST00000427841.1	-	0	481					NR_003264.2																						GCCCATCACCGCGACCATGGC	0.582000													6	243					0.00198382	0.00201289	1	1	0
PRSS57	400668	broad.mit.edu	37	19	691972	691972	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:691972G>A	ENST00000329267.7	-	3	296	c.267C>T	c.(265-267)ggC>ggT	p.G89G		NM_214710.3	NP_999875.1	Q6UWY2	PRS57_HUMAN	protease, serine, 57	89	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|lung(5)	6						GGACGTGGGCGCCCAGCACCA	0.662000													21	40					0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50279764	50279764	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:50279764C>T	ENST00000216268.4	+	2	2931	c.2454C>T	c.(2452-2454)aaC>aaT	p.N818N		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	818						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGACGCTGAACGAGGGGGAGC	0.622000													6	137					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47455391	47455391	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:47455391C>T	ENST00000265565.5	-	23	4205	c.3793G>A	c.(3793-3795)Gag>Aag	p.E1265K	SCAP_ENST00000441517.2_Missense_Mutation_p.E1009K|SCAP_ENST00000545718.1_Missense_Mutation_p.E872K	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1265	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGGCTGAGCTCACTGCCAAAG	0.617000													32	704					0	0	1	0	0
PRL	5617	broad.mit.edu	37	6	22290545	22290545	+	Missense_Mutation	SNP	C	C	T	rs139327343	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:22290545C>T	ENST00000306482.1	-	4	868	c.350G>A	c.(349-351)cGa>cAa	p.R117Q	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	117					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					ATTCCAGGATCGCAATATGCT	0.423000													115	115					0	0	1	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													10	112					0	0	1	0	0
CDC42	998	broad.mit.edu	37	1	22416480	22416480	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:22416480C>T	ENST00000315554.8	+	6	635	c.531C>T	c.(529-531)ctC>ctT	p.L177L	CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000400259.1_Intron|CDC42_ENST00000421089.2_Intron|CDC42_ENST00000344548.3_Intron	NM_044472.2	NP_426359.1	P60953	CDC42_HUMAN	cell division cycle 42	177					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		TAGCTGCCCTCGAGCCTCCGG	0.473000													31	149					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130332572	130332572	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:130332572G>T	ENST00000299164.2	+	4	1439	c.1439G>T	c.(1438-1440)tGc>tTc	p.C480F		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	480	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CAGATGGTGTGCCAGACCCGC	0.627000													8	367					1.12685e-05	1.17788e-05	1	1	0
TRBV6-9	0	broad.mit.edu	37	7	142104148	142104148	+	RNA	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:142104148G>C	ENST00000390379.1	-	0	316																											GAAGTATACAGATGTCTGGGA	0.537000													10	796					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28877903	28877903	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:28877903G>A	ENST00000337120.5	+	1	3779	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.R163Q|SH2B1_ENST00000359285.5_Missense_Mutation_p.R163Q|SH2B1_ENST00000322610.8_Missense_Mutation_p.R163Q|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000563674.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	163	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CGCTCTGTCCGAGGCTCAGTC	0.652000													132	353					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52507535	52507535	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:52507535G>A	ENST00000216286.5	-	8	1859	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	NID2_ENST00000541773.1_Silent_p.F567F	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	620	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTCCCGGGTAGAATGTAACTT	0.463000													100	186					0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367328	107367328	+	Missense_Mutation	SNP	T	T	C	rs74954118		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:107367328T>C	ENST00000542196.1	-	1	623	c.581A>G	c.(580-582)gAc>gGc	p.D194G		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GAACTCATTGTCTGAGATGTC	0.388000													11	398					0	0	1	0	0
CYP11B1	0	broad.mit.edu	37	8	143958530	143958530	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:143958530G>A	ENST00000292427.4	-	3	536	c.504C>T	c.(502-504)ttC>ttT	p.F168F	CYP11B1_ENST00000517471.1_Silent_p.F168F|CYP11B1_ENST00000377675.3_Silent_p.F239F	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	168					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GGGCCTGGGAGAAGTCCCTGG	0.612000									Familial Hyperaldosteronism type I				4	174					0	0	1	0	0
CYP21A1P	0	broad.mit.edu	37	6	31975463	31975463	+	RNA	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:31975463T>C	ENST00000342991.6	+	0	1386					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										GCAGCGACTGTAGGAGGAGCT	0.657000													6	17					0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112033386	112033386	+	Splice_Site	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:112033386T>C	ENST00000369716.4	-	2	484		c.e2-2		ADORA3_ENST00000369717.4_Splice_Site	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor						activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	ATTCTGAATCTGTTTAAGGGA	0.448000													4	158					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107248	6107248	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:6107248G>A	ENST00000409021.3	-	3	1025	c.576C>T	c.(574-576)gaC>gaT	p.D192D	JAKMIP1_ENST00000282924.5_Silent_p.D192D|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409831.1_Silent_p.D192D|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	192	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGTGCACCTCGTCTTGGTGCG	0.701000													23	43					0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123625215	123625215	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:123625215G>A	ENST00000327930.2	-	1	38	c.12C>T	c.(10-12)ggC>ggT	p.G4G		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGATTACTGTGCCATTTCTCA	0.398000													91	345					0	0	1	0	0
CENPT	80152	broad.mit.edu	37	16	67865088	67865088	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:67865088C>G	ENST00000445712.2	-	6	671	c.425G>C	c.(424-426)tGg>tCg	p.W142S	CENPT_ENST00000440851.2_Intron|CENPT_ENST00000219172.3_Intron|CENPT_ENST00000564817.1_Intron|CENPT_ENST00000562787.1_Intron|CENPT_ENST00000562947.1_Intron			Q96BT3	CENPT_HUMAN	centromere protein T	0					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GAGCTTTCCCCAAAGGCCAGC	0.597000													109	484					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30724130	30724130	+	Missense_Mutation	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:30724130G>C	ENST00000361762.2	+	1	2094	c.1086G>C	c.(1084-1086)gaG>gaC	p.E362D	PCDH7_ENST00000543491.1_Missense_Mutation_p.E362D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	362	Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCCTTGACGAGACGTCCGGCT	0.692000													5	245					0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44129317	44129317	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:44129317G>A	ENST00000222374.2	-	7	889	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L	CADM4_ENST00000593506.1_5'UTR	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	281	Ig-like C2-type 2.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GCGGATACCAGACCCGGCAGC	0.622000													6	193					0	0	1	0	0
SUGT1	10910	broad.mit.edu	37	13	53227075	53227075	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:53227075G>A	ENST00000310528.7	+	1	75	c.20G>A	c.(19-21)gGa>gAa	p.G7E	SUGT1_ENST00000535397.1_5'UTR|SUGT1_ENST00000343788.6_Missense_Mutation_p.G7E|SUGT1_ENST00000483074.1_3'UTR	NM_006704.3	NP_006695.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	7					mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		gctgcagcagGAACTGCAACA	0.542000											OREG0022432	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	127					0	0	1	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	476687	476687	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:476687C>T	ENST00000262305.4	+	1	1069	c.681C>T	c.(679-681)ttC>ttT	p.F227F	RAB11FIP3_ENST00000457159.1_Silent_p.F227F	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	227	EF-hand 1.				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				TCGAGGACTTCATCCAGTTTG	0.706000													5	158					0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172480552	172480552	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:172480552C>A	ENST00000417960.1	+	10	1342	c.865C>A	c.(865-867)Ctt>Att	p.L289I	ECT2_ENST00000540509.1_Missense_Mutation_p.L321I|ECT2_ENST00000232458.5_Missense_Mutation_p.L290I|ECT2_ENST00000427830.1_Missense_Mutation_p.L290I|ECT2_ENST00000441497.2_Missense_Mutation_p.L290I|ECT2_ENST00000392692.3_Missense_Mutation_p.L321I	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	290	BRCT 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AGTAAAAGATCTTCCCTTTGA	0.333000													72	132					1.88935e-48	2.14488e-48	1	1	0
ZFP28	140612	broad.mit.edu	37	19	57051065	57051065	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:57051065G>A	ENST00000301318.3	+	2	351	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	ZFP28_ENST00000594386.1_3'UTR|ZFP28_ENST00000591844.1_Missense_Mutation_p.E94K	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GACAGGAATTGAACCTAAAGC	0.468000													6	169					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195395399	195395399	+	RNA	SNP	G	G	A	rs62287990	by1000genomes	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:195395399G>A	ENST00000445430.1	+	0	806																											GGCTACGGGCGCACCTACTTG	0.607000													8	186					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58490523	58490523	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:58490523C>T	ENST00000341164.4	-	7	2145	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	ZNF606_ENST00000536132.1_Missense_Mutation_p.E419K	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AAAGGTTTCTCTCCTGTATGA	0.393000													5	187					0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101153416	101153416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:101153416G>A	ENST00000428847.2	-	2	1382	c.1066C>T	c.(1066-1068)Caa>Taa	p.Q356*		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	356					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AGTAGTTCTTGAAAAGAACCC	0.463000													100	311					0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65413984	65413984	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:65413984C>T	ENST00000394224.3	+	8	1775	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	SIPA1_ENST00000527525.1_Silent_p.G493G|SIPA1_ENST00000534313.1_Silent_p.G493G|SIPA1_ENST00000394227.3_Silent_p.G493G	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	493	Rap-GAP.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGCCTGCTGGCGGAGGCCCCT	0.716000													7	60					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19666604	19666604	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:19666604G>A	ENST00000284885.3	-	21	2502	c.2469C>T	c.(2467-2469)gcC>gcT	p.A823A		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	823	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CGCAGTGTGCGGCGGACACCA	0.582000													33	174					0	0	1	0	0
NGDN	25983	broad.mit.edu	37	14	23945486	23945486	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:23945486C>T	ENST00000397154.3	+	8	596	c.583C>T	c.(583-585)Cga>Tga	p.R195*	NGDN_ENST00000408901.3_Nonsense_Mutation_p.R195*|NGDN_ENST00000556580.1_5'UTR			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	195					regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCGTCTAGAACGAGCCAAGAG	0.473000													12	134					0	0	1	0	0
KBTBD4	55709	broad.mit.edu	37	11	47599133	47599133	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:47599133C>T	ENST00000533290.1	-	1	1208	c.494G>A	c.(493-495)cGc>cAc	p.R165H	KBTBD4_ENST00000525720.1_Missense_Mutation_p.R189H|KBTBD4_ENST00000526005.1_Missense_Mutation_p.R140H|KBTBD4_ENST00000430070.2_Missense_Mutation_p.R156H|KBTBD4_ENST00000395288.2_Missense_Mutation_p.R140H|NDUFS3_ENST00000533507.1_Intron			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	140	BACK.							p.R140H(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TTGCACTGTGCGGGCCAAAAA	0.517000													6	548					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128844270	128844270	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:128844270G>A	ENST00000310343.9	-	20	2779	c.2780C>T	c.(2779-2781)tCa>tTa	p.S927L	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.S853L|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S578L|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S578L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	927					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TGTGGTATTTGAGACTGTACC	0.438000													64	233					0	0	1	0	0
CERK	64781	broad.mit.edu	37	22	47087589	47087589	+	Silent	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:47087589G>T	ENST00000216264.8	-	11	1324	c.1212C>A	c.(1210-1212)ccC>ccA	p.P404P	CERK_ENST00000471929.1_5'UTR|CERK_ENST00000541677.1_Silent_p.P206P	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	404					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGAGGCCCCTGGGGCTCCGGC	0.557000													52	223					2.73381e-35	3.09088e-35	1	1	0
FAM184A	79632	broad.mit.edu	37	6	119285893	119285893	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:119285893G>A	ENST00000338891.7	-	16	3520	c.3077C>T	c.(3076-3078)aCt>aTt	p.T1026I	FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000352896.5_Missense_Mutation_p.T857I|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	1026										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GTTGAAGTTAGTTTCTCGATT	0.303000													7	84					0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5344684	5344684	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:5344684G>A	ENST00000328813.2	-	1	898	c.844C>T	c.(844-846)Cct>Tct	p.P282S	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTAAAGGAGGAAAGAGGAAG	0.373000													30	207					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155233761	155233761	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:155233761C>G	ENST00000368361.4	-	12	1612	c.1297G>C	c.(1297-1299)Gag>Cag	p.E433Q	CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.E433Q|CLK2_ENST00000361168.5_Missense_Mutation_p.E432Q|CLK2_ENST00000355560.4_Missense_Mutation_p.E431Q			P49760	CLK2_HUMAN	CDC-like kinase 2	433	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTGCAGTTCTCACGAACATAG	0.542000								Other conserved DNA damage response genes					97	409					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146350993	146350993	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:146350993G>A	ENST00000392299.2	+	2	810	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	GRM1_ENST00000355289.4_Missense_Mutation_p.V114M|GRM1_ENST00000361719.2_Missense_Mutation_p.V114M|GRM1_ENST00000492807.2_Missense_Mutation_p.V114M|GRM1_ENST00000282753.1_Missense_Mutation_p.V114M|GRM1_ENST00000507907.1_Missense_Mutation_p.V114M			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	114					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCACTCTTCCGTGGCTCTGGA	0.567000													17	107					0	0	1	0	0
TRAV6	0	broad.mit.edu	37	14	22237224	22237224	+	RNA	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:22237224C>T	ENST00000390428.3	+	0	308																											GAAAGAAAGACTGAAGGTCAC	0.453000													5	346					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487100	248487100	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:248487100G>A	ENST00000317965.2	-	1	799	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAATGCACATGAACAAACCTG	0.463000													20	495					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109367778	109367778	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:109367778G>A	ENST00000283195.6	+	10	1458	c.1332G>A	c.(1330-1332)tgG>tgA	p.W444*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	444					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GCTTACAGTGGAATTCATTGC	0.388000													147	403					0	0	1	0	0
GDI2	2665	broad.mit.edu	37	10	5810230	5810230	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:5810230C>T	ENST00000380191.4	-	8	1227	c.937G>A	c.(937-939)Gat>Aat	p.D313N	GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380132.4_Missense_Mutation_p.D317N|GDI2_ENST00000380181.3_Missense_Mutation_p.D268N	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	313					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						GAGTTGGCATCATTGGTGTTC	0.453000													63	228					0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116631625	116631625	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:116631625C>T	ENST00000260210.4	-	5	1103	c.1080G>A	c.(1078-1080)cgG>cgA	p.R360R	BUD13_ENST00000375445.3_Silent_p.R226R	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	360										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TTTGTTTATGCCGTGGAGAAG	0.483000													5	274					0	0	1	0	0
ASRGL1	80150	broad.mit.edu	37	11	62159721	62159721	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:62159721G>A	ENST00000415229.2	+	7	1107	c.892G>A	c.(892-894)Gat>Aat	p.D298N	CTD-2531D15.5_ENST00000526045.1_RNA|ASRGL1_ENST00000301776.5_Missense_Mutation_p.D298N	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	298					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	CTTCGGAATTGATCCTGACGA	0.527000											OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	239					0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157689125	157689125	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:157689125G>A	ENST00000502773.1	-	5	1211	c.721C>T	c.(721-723)Cta>Tta	p.L241L	PDGFC_ENST00000422544.2_Silent_p.L241L|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000541126.1_Silent_p.L78L|PDGFC_ENST00000542208.1_Silent_p.L86L	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	241					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TCCTCTGTTAGAAGGTTCAGA	0.383000													17	476					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51219698	51219698	+	Missense_Mutation	SNP	G	G	A	rs143340442		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:51219698G>A	ENST00000293441.1	-	2	311	c.293C>T	c.(292-294)aCg>aTg	p.T98M	SHANK1_ENST00000391814.1_Missense_Mutation_p.T98M|SHANK1_ENST00000359082.3_Missense_Mutation_p.T98M	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	98					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTGCTTGGCCGTCCAGATGGT	0.627000													5	270					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158812091	158812091	+	Missense_Mutation	SNP	G	G	T	rs140390501		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:158812091G>T	ENST00000368141.4	+	2	409	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	50	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TAAGATTACAGATTTGATGGA	0.338000													9	260					0.000274275	0.000281386	1	1	0
MAGEB4	4115	broad.mit.edu	37	X	30260943	30260943	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:30260943G>A	ENST00000378982.2	+	1	887	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	231	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GGGGATCTATGATGGAAAGAG	0.473000													9	300					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24993374	24993374	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:24993374C>A	ENST00000323848.9	+	13	2012	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	566	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	p.P566H(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCCGCCCCTCCTCCTCGACGG	0.542000													5	220					3.59834e-05	3.73311e-05	1	1	0
GRINA	2907	broad.mit.edu	37	8	145066090	145066090	+	Silent	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:145066090G>C	ENST00000313269.5	+	4	815	c.537G>C	c.(535-537)acG>acC	p.T179T	GRINA_ENST00000395068.4_Silent_p.T179T	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	179						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCTGTCCACGGTGTCTGTGT	0.572000													137	506					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													6	200					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688941	26688941	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:26688941G>A	ENST00000529632.2	+	2	860	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	SEZ6L_ENST00000248933.6_Missense_Mutation_p.G222R|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G222R|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G222R|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G222R|SEZ6L_ENST00000402979.1_5'UTR	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	222						endoplasmic reticulum membrane|integral to membrane		p.G222K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCCAGAACCCGGGGAGCCTGG	0.642000													11	317					0	0	1	0	0
SC5D	6309	broad.mit.edu	37	11	121174258	121174258	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:121174258C>T	ENST00000264027.4	+	2	548	c.174C>T	c.(172-174)ttC>ttT	p.F58F	SC5D_ENST00000392789.2_Silent_p.F58F|SC5D_ENST00000534230.1_Silent_p.F58F	NM_006918.4	NP_008849.2			sterol-C5-desaturase									p.F58F(1)									ATTTTGTCTTCGATCATGCAT	0.294000													46	163					0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287490	46287490	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:46287490C>T	ENST00000378966.3	+	2	638	c.222C>T	c.(220-222)gcC>gcT	p.A74A	SPERT_ENST00000310521.1_Silent_p.A110A			Q8NA61	SPERT_HUMAN	spermatid associated	110						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		TGTCCCAGGCCGACCTGGAGC	0.647000													7	539					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064306	9064306	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:9064306G>A	ENST00000397910.4	-	3	23343	c.23140C>T	c.(23140-23142)Ccc>Tcc	p.P7714S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7716	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACAGGAAGGGGAGAGGGGGGG	0.532000													37	201					0	0	1	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126379	19126379	+	Missense_Mutation	SNP	T	T	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:19126379T>A	ENST00000381440.3	+	1	1126	c.596T>A	c.(595-597)cTg>cAg	p.L199Q	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	199						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GAGCCAGCGCTGGCCCCGGCC	0.701000											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	177					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996570	19996570	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:19996570C>T	ENST00000391403.2	-	1	1308	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	402						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGCTCGCTTTCGGTAGGTCTC	0.358000													23	436					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50037965	50037965	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:50037965G>A	ENST00000376042.1	+	5	605	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.A103T			Q8WWL7	CCNB3_HUMAN	cyclin B3	103					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCTTGGACTGGCCAAAAAGAA	0.403000													5	324					0	0	1	0	0
PIP4K2B	8396	broad.mit.edu	37	17	36940505	36940505	+	Silent	SNP	C	C	T	rs143351168	by1000genomes	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:36940505C>T	ENST00000269554.3	-	3	825	c.345G>A	c.(343-345)caG>caA	p.Q115Q	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	115	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						CCTGGTAATCCTGATCATCAA	0.502000													4	153					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56128948	56128948	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:56128948C>A	ENST00000373965.2	-	5	800	c.406G>T	c.(406-408)Gtg>Ttg	p.V136L	PCDH15_ENST00000395438.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395445.1_Missense_Mutation_p.V136L|PCDH15_ENST00000320301.6_Missense_Mutation_p.V136L|PCDH15_ENST00000395430.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395442.1_Missense_Mutation_p.V136L|PCDH15_ENST00000361849.3_Missense_Mutation_p.V136L|PCDH15_ENST00000395440.1_Missense_Mutation_p.V136L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.V136L|PCDH15_ENST00000437009.1_Missense_Mutation_p.V136L|PCDH15_ENST00000373955.1_Missense_Mutation_p.V136L|PCDH15_ENST00000414778.1_Missense_Mutation_p.V141L|PCDH15_ENST00000395433.1_Missense_Mutation_p.V114L|PCDH15_ENST00000373957.3_Missense_Mutation_p.V114L|PCDH15_ENST00000395446.1_Missense_Mutation_p.V136L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	136	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTCTCACCACTATTCGCACT	0.438000										HNSCC(58;0.16)			55	125					2.23044e-30	2.49125e-30	1	1	0
STXBP5L	9515	broad.mit.edu	37	3	120957910	120957910	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:120957910T>C	ENST00000273666.6	+	13	1548	c.1277T>C	c.(1276-1278)aTt>aCt	p.I426T	STXBP5L_ENST00000492541.1_Missense_Mutation_p.I426T|STXBP5L_ENST00000497029.1_Missense_Mutation_p.I426T|STXBP5L_ENST00000471454.1_Missense_Mutation_p.I426T|STXBP5L_ENST00000472879.1_Missense_Mutation_p.I426T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	426					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CCGGATTTGATTCTAGTACTG	0.313000													4	161					0	0	1	0	0
THY1	7070	broad.mit.edu	37	11	119290857	119290857	+	Missense_Mutation	SNP	C	C	T	rs142564004		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:119290857C>T	ENST00000284240.5	-	3	1316	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000530002.1_RNA|THY1_ENST00000528522.1_Missense_Mutation_p.A93T|THY1_ENST00000580275.1_Missense_Mutation_p.A76T|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000498979.2_RNA|THY1_ENST00000527590.1_5'UTR	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	93	Ig-like V-type.				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		CTAGTGAAGGCGGATAAGTAG	0.562000													12	358					0	0	1	0	0
FFAR2	2867	broad.mit.edu	37	19	35941517	35941517	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:35941517C>T	ENST00000599180.1	+	2	981	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.R301C			O15552	FFAR2_HUMAN	free fatty acid receptor 2	301						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGTTGGGACGCAGAGGCAA	0.567000													155	326					0	0	1	0	0
FBXO45	200933	broad.mit.edu	37	3	196304578	196304578	+	Silent	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:196304578T>C	ENST00000311630.6	+	2	870	c.573T>C	c.(571-573)agT>agC	p.S191S	FBXO45_ENST00000440469.1_Silent_p.S12S	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	191	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TGCTGGGCAGTGATGACCAGA	0.517000													41	78					0	0	1	0	0
DBT	1629	broad.mit.edu	37	1	100701025	100701025	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:100701025C>G	ENST00000370132.3	-	3	231	c.218G>C	c.(217-219)gGa>gCa	p.G73A	DBT_ENST00000370131.3_Missense_Mutation_p.G73A	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	73	Lipoyl-binding.				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AATCCCTTCTCCAATGTCTGA	0.289000													53	218					0	0	1	0	0
IL17C	27189	broad.mit.edu	37	16	88706381	88706381	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:88706381C>T	ENST00000244241.4	+	3	544	c.495C>T	c.(493-495)cgC>cgT	p.R165R		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	165					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CCTGCTCCCGCGACGGCTCGG	0.701000													8	290					0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29476660	29476660	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:29476660C>T	ENST00000373795.4	-	5	857	c.623G>A	c.(622-624)aGt>aAt	p.S208N	SRSF4_ENST00000546138.1_Intron|SRSF4_ENST00000466448.1_Intron	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	208	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						GCTGCTGCCACTTCGGCTTCT	0.478000													176	375					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14515219	14515219	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:14515219G>A	ENST00000242786.5	+	13	1554	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.E399K|CD97_ENST00000357355.3_Missense_Mutation_p.E443K	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	492	GPS.				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCACGGCAGGAGCTGCTCTG	0.642000													161	314					0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105182892	105182892	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:105182892G>A	ENST00000257700.2	+	4	542	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	RINT1_ENST00000477285.1_3'UTR	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	104					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAAAGAATTCGAAGTGCCTTA	0.328000													32	247					0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916371	149916371	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:149916371G>A	ENST00000369135.3	-	12	2211	c.1917C>T	c.(1915-1917)ttC>ttT	p.F639F		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	639					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTTCTGCCAGGAATCTCTCCT	0.517000													112	447					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17271988	17271988	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:17271988C>T	ENST00000375541.5	+	15	2092	c.2023C>T	c.(2023-2025)Cgc>Tgc	p.R675C	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	675					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGAAGGGAAGCGCTCAGTCCT	0.642000													6	115					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48691183	48691183	+	Missense_Mutation	SNP	A	A	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:48691183A>C	ENST00000314191.2	-	84	11743	c.11687T>G	c.(11686-11688)tTc>tGc	p.F3896C	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.F3865C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3897	PI3K/PI4K.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GAGCGCCAGGAAAGCCTCAGG	0.562000								Non-homologous end-joining					21	71					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377159	50377159	+	Silent	SNP	A	A	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:50377159A>G	ENST00000376020.2	-	4	1939	c.1914T>C	c.(1912-1914)tcT>tcC	p.S638S	SHROOM4_ENST00000289292.7_Silent_p.S638S|SHROOM4_ENST00000460112.3_Silent_p.S522S	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	638					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AAGATAGAAGAGATGTGTTAG	0.522000													31	251					0	0	1	0	0
PRMT2	3275	broad.mit.edu	37	21	48078697	48078697	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:48078697C>T	ENST00000397637.1	+	7	1649	c.695C>T	c.(694-696)gCc>gTc	p.A232V	PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000440086.1_Intron|PRMT2_ENST00000458387.2_Intron|PRMT2_ENST00000451211.2_Missense_Mutation_p.A232V|PRMT2_ENST00000355680.3_Missense_Mutation_p.A232V|PRMT2_ENST00000397638.2_Missense_Mutation_p.A232V			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	232	Interaction with ESR1.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		GCCCGGGATGCCTGGCTGAAG	0.567000													4	163					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039053	11039053	+	RNA	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:11039053C>T	ENST00000470054.1	-	0	1150									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGAGTCCATCAATCCAGTAG	0.383000													24	1190					0	0	1	0	0
KIF5B	3799	broad.mit.edu	37	10	32310006	32310006	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:32310006G>A	ENST00000302418.4	-	19	2605	c.2148C>T	c.(2146-2148)atC>atT	p.I716I	KIF5B_ENST00000493889.1_5'UTR	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	716					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TCAAACTACTGATCTGTTTTT	0.358000			T	"""RET, ALK"""	NSCLC								13	330					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52192921	52192921	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:52192921C>T	ENST00000371471.2	-	4	2807	c.2382G>A	c.(2380-2382)caG>caA	p.Q794Q	ZNF217_ENST00000302342.3_Silent_p.Q794Q			O75362	ZN217_HUMAN	zinc finger protein 217	794					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CAGGAGGGCTCTGCTTCCCCT	0.562000													105	216					0	0	1	0	0
IGLL5	100423062	broad.mit.edu	37	22	23237723	23237723	+	Missense_Mutation	SNP	A	A	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:23237723A>C	ENST00000532223.1	+	3	771	c.497A>C	c.(496-498)aAa>aCa	p.K166T	IGLL5_ENST00000526893.1_Missense_Mutation_p.K165T|IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	165	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GAGACCACCAAACCCTCCAAA	0.602000													8	287					0	0	1	0	0
HCAR1	27198	broad.mit.edu	37	12	123213884	123213884	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:123213884C>A	ENST00000432564.1	-	1	1245	c.1003G>T	c.(1003-1005)Gat>Tat	p.D335Y	HCAR1_ENST00000436083.2_Missense_Mutation_p.D335Y|HCAR1_ENST00000356987.2_Missense_Mutation_p.D335Y	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	335					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						CATTGCCCATCAGACTGGCTT	0.488000													16	297					1.3612e-06	1.43366e-06	1	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84652038	84652038	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:84652038C>T	ENST00000286744.5	+	21	3882	c.3658C>T	c.(3658-3660)Ccc>Tcc	p.P1220S	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P1220S	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1220	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTTATTACCCCCAGTGAGGC	0.348000													12	535					0	0	1	0	0
TACR2	6865	broad.mit.edu	37	10	71164771	71164771	+	Silent	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:71164771G>C	ENST00000373306.4	-	5	1551	c.1008C>G	c.(1006-1008)ctC>ctG	p.L336L	TACR2_ENST00000373307.1_Silent_p.L124L	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	336					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GAGTCAGCTCGAGCTTATCTT	0.612000													10	325					0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12316361	12316361	+	Silent	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:12316361T>C	ENST00000256186.2	+	3	1674	c.1383T>C	c.(1381-1383)ccT>ccC	p.P461P		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	461	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ctcctcctcctcctcctcctc	0.582000													5	58					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17353277	17353277	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:17353277C>G	ENST00000261381.6	-	3	565	c.481G>C	c.(481-483)Gag>Cag	p.E161Q		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	161					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCGACATTCTCAAAGTCTTTG	0.502000													113	344					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													6	143					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193042744	193042744	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:193042744G>A	ENST00000342358.4	-	14	1700	c.1583C>T	c.(1582-1584)gCg>gTg	p.A528V		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	528					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGCCATGGCCGCACACAGTGG	0.532000													7	513					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:6536011_6536013delCTC	ENST00000377748.1	-	4	855_857	c.358_360delGAG	c.(358-360)del	p.E120del	PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	99					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	410	---	---	---	---					
PHF13	148479	broad.mit.edu	37	1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:6680069_6680071delGAA	ENST00000377648.4	+	3	730_732	c.348_350delGAA	c.(346-351)ctg>ct	p.LK116del	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	116					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		cggacaagctgaagaagaagaag	0.576													10	326	---	---	---	---					
PTPRF	5792	broad.mit.edu	37	1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cag>ca	p.QR1173del	PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1173					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631													12	553	---	---	---	---					
SRGAP2B	0	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108																											tcgctcacgctggagctgtaga	0.535													12	52	---	---	---	---					
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:151773603delA	ENST00000368820.3	-	2	2515	c.1578delT	c.(1576-1578)ttfs	p.F526fs		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	526						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTATCCAGAAAAAAAGGCC	0.582													9	836	---	---	---	---					
OTX1	5013	broad.mit.edu	37	2	63283259	63283261	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:63283259_63283261delCCA	ENST00000282549.2	+	5	1149_1151	c.873_875delCCA	c.(871-876)ggc>gg	p.GH291del	OTX1_ENST00000366671.3_In_Frame_Del_p.GH291del	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	291	His-rich.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					AGTCCTCAGGccaccaccaccac	0.640													8	358	---	---	---	---					
WBP1	23559	broad.mit.edu	37	2	74687550	74687550	+	Frame_Shift_Del	DEL	T	T	-	rs8469	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:74687550delT	ENST00000393972.3	+	5	857	c.654delT	c.(652-654)ccfs	p.P218fs	WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000233615.2_Frame_Shift_Del_p.P184fs|WBP1_ENST00000409737.1_Frame_Shift_Del_p.P181fs			Q96G27	WBP1_HUMAN	WW domain binding protein 1	184							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GTGCCCCCCCTCATCAGGAGG	0.612													8	676	---	---	---	---					
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)cat>ca	p.HH931del		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	931	Poly-His.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502													10	725	---	---	---	---					
UROC1	131669	broad.mit.edu	37	3	126220105	126220106	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:126220105_126220106insT	ENST00000290868.2	-	10	973_974	c.920_921insA	c.(919-921)agafs	p.R307fs	UROC1_ENST00000383579.3_Frame_Shift_Ins_p.R367fs	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	307					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGAGCACCTCCTTTTTTTTCCT	0.584													13	871	---	---	---	---					
ATR	545	broad.mit.edu	37	3	142274739	142274740	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:142274739_142274740insT	ENST00000350721.4	-	10	2441_2442	c.2320_2321insA	c.(2320-2322)accfs	p.T774fs	ATR_ENST00000383101.3_Frame_Shift_Ins_p.T710fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	774					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.I774fs*5(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGGACTAGGTATTTTTTTTTTC	0.332								Other conserved DNA damage response genes					12	426	---	---	---	---					
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:169896635_169896637delTGG	ENST00000494943.1	-	2	136_138	c.68_70delCCA	c.(67-72)atc>a	p.TI23del	PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	23	Poly-Thr.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493													8	1112	---	---	---	---					
SLC34A2	10568	broad.mit.edu	37	4	25678148	25678150	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:25678148_25678150delGCT	ENST00000382051.3	+	13	1900_1902	c.1850_1852delGCT	c.(1849-1854)cgc>c	p.RC617del	SLC34A2_ENST00000503434.1_In_Frame_Del_p.RC616del|SLC34A2_ENST00000504570.1_In_Frame_Del_p.RC616del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	617	Cys-rich.				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTCCAGATGCgctgctgctgctg	0.640			T	ROS1	NSCLC								7	247	---	---	---	---					
CDKL2	8999	broad.mit.edu	37	4	76539579	76539580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:76539579_76539580insT	ENST00000429927.2	-	3	925_926	c.222_223insA	c.(220-225)aagatgfs	p.M75fs	CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	75	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTACCATCGTTTTTTTTTCT	0.322													7	200	---	---	---	---					
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:89618431_89618433delCCT	ENST00000323061.5	-	1	953_955	c.473_475delAGG	c.(472-477)gct>g	p.EA158del	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	158	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626													10	479	---	---	---	---					
FBXW7	0	broad.mit.edu	37	4	153253860	153253861	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:153253860_153253861delAT	ENST00000281708.4	-	6	2101_2102	c.872_873delAT	c.(871-873)tfs	p.Y291fs	FBXW7_ENST00000393956.3_Frame_Shift_Del_p.Y115fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.Y291fs|FBXW7_ENST00000603548.1_Frame_Shift_Del_p.Y291fs|FBXW7_ENST00000296555.5_Frame_Shift_Del_p.Y173fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.Y211fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	291	F-box.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGAAAGCACATAGAGTGCCAA	0.347			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								52	90	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	RNA	INS	-	-	G	rs140221514		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728													7	36	---	---	---	---					
MAS1L	116511	broad.mit.edu	37	6	29455156	29455157	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:29455156_29455157delAC	ENST00000377127.3	-	1	581_582	c.523_524delGT	c.(523-525)cfs	p.V175fs		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	175						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGGGAAGAGGACACACACACAC	0.495													7	219	---	---	---	---					
HLA-DRB6	0	broad.mit.edu	37	6	32522756	32522756	+	RNA	DEL	A	A	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:32522756delA	ENST00000411500.1	-	0	458					NR_001298.1																						GGACTAGGAGAAAAAAAGGTA	0.517													8	78	---	---	---	---					
GRIK2	2898	broad.mit.edu	37	6	102503431	102503432	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:102503431_102503432insA	ENST00000369138.1	+	15	3028_3029	c.2538_2539insA	c.(2536-2541)tcaaaafs	p.SK846fs	GRIK2_ENST00000421544.1_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.SK797fs|GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.SK770fs	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	846					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.N849fs*12(1)|p.N849fs*14(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TATACAAATCCAAAAAAAACGC	0.351													24	303	---	---	---	---					
TRGC2	0	broad.mit.edu	37	7	38284901	38284902	+	RNA	DEL	TA	TA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:38284901_38284902delTA	ENST00000436911.2	-	0	330																											tgtgtgtgtgtatgtgtgtgtg	0.376													16	478	---	---	---	---					
GTF2IRD2P1	0	broad.mit.edu	37	7	72667736	72667736	+	RNA	DEL	T	T	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:72667736delT	ENST00000425256.1	-	0	633					NR_002164.1																						CCAGACTGAAttttttttttc	0.378													7	64	---	---	---	---					
GIGYF1	64599	broad.mit.edu	37	7	100281686	100281688	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:100281686_100281688delGCT	ENST00000275732.5	-	15	3032_3034	c.1823_1825delAGC	c.(1822-1827)ctc>c	p.QL608del		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	608	Gln-rich.|Poly-Gln.									central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AATGCCGTGAGCTGCTGCTGCTG	0.690													7	146	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151860794	151860794	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:151860794delG	ENST00000355193.2	-	43	10086	c.9868delC	c.(9868-9870)tafs	p.L3290fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.L3290fs					lysine (K)-specific methyltransferase 2C																		CCTGGAATTAGGGGTGGCTGG	0.537													72	254	---	---	---	---					
XRCC2	7516	broad.mit.edu	37	7	152346220	152346220	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:152346220delA	ENST00000359321.1	-	3	435	c.350delT	c.(349-351)tgfs	p.L117fs	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	117					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	p.V118fs*5(1)		NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GCAGTACACCAAAAAAAATCT	0.393								Homologous recombination					7	369	---	---	---	---					
UNC5D	137970	broad.mit.edu	37	8	35608248	35608248	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:35608248delT	ENST00000287272.2	+	12	1897	c.1877delT	c.(1876-1878)gtfs	p.V626fs	UNC5D_ENST00000420357.1_Frame_Shift_Del_p.V628fs|UNC5D_ENST00000416672.1_Frame_Shift_Del_p.V700fs|UNC5D_ENST00000449677.1_Frame_Shift_Del_p.V271fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.V690fs|UNC5D_ENST00000404895.2_Frame_Shift_Del_p.V695fs			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	695	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AAGGTGGCGGTTTTTGGCTGC	0.488													7	588	---	---	---	---					
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)ggfs	p.R2703fs	PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining					9	1247	---	---	---	---					
CYP11B1	0	broad.mit.edu	37	8	143956378	143956380	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:143956378_143956380delGCA	ENST00000292427.4	-	8	1423_1425	c.1391_1393delTGC	c.(1390-1395)cac>c	p.LH464del	CYP11B1_ENST00000377675.3_In_Frame_Del_p.LH535del|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	464					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTCACATGGTGCAGCAGCAGCAG	0.680									Familial Hyperaldosteronism type I				7	411	---	---	---	---					
ROR2	4920	broad.mit.edu	37	9	94486026	94486028	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:94486026_94486028delTCC	ENST00000375708.3	-	9	2946_2948	c.2748_2750delGGA	c.(2746-2751)gaa>ga	p.EE916del	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	916					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GACAGAGCCTTCCTCCTCCTCCT	0.645													8	386	---	---	---	---					
RABL6	55684	broad.mit.edu	37	9	139734633	139734635	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:139734633_139734635delAGA	ENST00000371675.3	+	14	2498_2500	c.1613_1615delAGA	c.(1612-1617)gag>g	p.EK538del	RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del					RAB, member RAS oncogene family-like 6																		CCCTCTaaggagaagaagaagaa	0.571													11	177	---	---	---	---					
OLAH	55301	broad.mit.edu	37	10	15103848	15103848	+	Frame_Shift_Del	DEL	T	T	-	rs138615083		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:15103848delT	ENST00000378217.3	+	5	635	c.448delT	c.(448-450)ttfs	p.F151fs	OLAH_ENST00000378228.3_Frame_Shift_Del_p.F98fs	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	98					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						ACCATTTGCATTTTTTGGCCA	0.368													8	658	---	---	---	---					
ANK3	288	broad.mit.edu	37	10	61828727	61828729	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:61828727_61828729delGTG	ENST00000280772.1	-	37	12101_12103	c.11910_11912delCAC	c.(11908-11913)act>ac	p.TT3976del	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3976	Thr-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						agtggtggtagtggtggtggtgg	0.468													12	479	---	---	---	---					
ZNF503	84858	broad.mit.edu	37	10	77161101	77161106	+	In_Frame_Del	DEL	CCGCCT	CCGCCT	-	rs72126859		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:77161101_77161106delCCGCCT	ENST00000372524.4	-	1	558_563	c.72_77delAGGCGG	c.(70-78)ggc>gg	p.GGG24del	ZNF503_ENST00000535216.1_In_Frame_Del_p.GGG24del	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	24	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GTCTGCAccgccgcctccgcctccgc	0.718													5	10	---	---	---	---					
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gct>g	p.AP981del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	981	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635													11	711	---	---	---	---					
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:103919000_103919002delAGC	ENST00000405356.1	+	6	893_895	c.658_660delAGC	c.(658-660)del	p.S227del	NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000603742.1_5'UTR			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517													11	741	---	---	---	---					
APBB1	322	broad.mit.edu	37	11	6432090	6432092	+	In_Frame_Del	DEL	TCC	TCC	-	rs145320037		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:6432090_6432092delTCC	ENST00000389906.2	-	2	585_587	c.486_488delGGA	c.(484-489)gat>ga	p.ED162del	APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del|APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000533407.1_Intron	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	162	Glu-rich.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.E162D(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		atcatcatcatcctcctcctcct	0.635													10	179	---	---	---	---					
OR10A2	341276	broad.mit.edu	37	11	6891253	6891255	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:6891253_6891255delTTC	ENST00000307322.4	+	1	330_332	c.268_270delTTC	c.(268-270)del	p.F94del		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGATGTATTTCTTCTTCTTCT	0.517													7	471	---	---	---	---					
OR8I2	120586	broad.mit.edu	37	11	55861308	55861308	+	Frame_Shift_Del	DEL	T	T	-	rs112181516		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:55861308delT	ENST00000302124.2	+	1	556	c.525delT	c.(523-525)cafs	p.H175fs	OR8I2_ENST00000560768.1_Frame_Shift_Del_p.H175fs			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C178fs*2(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCATCAATCATTTTTTTTGTG	0.443													7	539	---	---	---	---					
CASP1	834	broad.mit.edu	37	11	104901070	104901070	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:104901070delT	ENST00000533400.1	-	5	649	c.614delA	c.(613-615)atfs	p.N205fs	CASP1_ENST00000525825.1_Frame_Shift_Del_p.N184fs|CASP1_ENST00000594519.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000593315.1_Frame_Shift_Del_p.N184fs|CASP1_ENST00000446369.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000436863.3_Frame_Shift_Del_p.N205fs|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000528974.1_Frame_Shift_Del_p.N166fs|CASP1_ENST00000527979.1_Frame_Shift_Del_p.N168fs|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000526568.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000598974.1_Frame_Shift_Del_p.N205fs|CASP1_ENST00000393136.4_Frame_Shift_Del_p.N184fs|CASP1_ENST00000534497.1_Frame_Shift_Del_p.N112fs	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	205					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	p.N205I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	AGCAGTGAGATTTTTTTTCAC	0.378													8	413	---	---	---	---					
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:108788635_108788637delTGA	ENST00000526794.1	+	17	2372_2374	c.2340_2342delTGA	c.(2338-2343)agt>ag	p.SD780del	DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	780							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*								7	309	---	---	---	---					
OR6C75	390323	broad.mit.edu	37	12	55759192	55759192	+	Frame_Shift_Del	DEL	T	T	-	rs75456529		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:55759192delT	ENST00000343399.3	+	1	298	c.298delT	c.(298-300)ttfs	p.F102fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GGCTCAGCTATTTTTTTTCAT	0.438													8	379	---	---	---	---					
SMARCC2	6601	broad.mit.edu	37	12	56558379	56558381	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:56558379_56558381delAGG	ENST00000550164.1	-	28	3381_3383	c.3367_3369delCCT	c.(3367-3369)del	p.P1123del	SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|RP11-977G19.5_ENST00000553176.1_RNA			Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1092	Pro-rich.			HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694).	chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGATGGAGCAGGAGGAGGAGGA	0.591													9	138	---	---	---	---					
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)del	p.E238del	MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458													8	494	---	---	---	---					
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gag>g	p.EK849del	SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	849	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606													7	531	---	---	---	---					
TPTE2P1	0	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													10	13	---	---	---	---					
COG3	83548	broad.mit.edu	37	13	46054424	46054425	+	Splice_Site	INS	-	-	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:46054424_46054425insG	ENST00000349995.5	+	4	660_661	c.549_splice	c.e4+1	p.L183_splice		NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	183					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CTAAAAGAACAGGTAATTTGGA	0.332													47	140	---	---	---	---					
EBPL	84650	broad.mit.edu	37	13	50235209	50235209	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:50235209delA	ENST00000242827.6	-	4	566	c.516delT	c.(514-516)ttfs	p.F172fs	EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378270.5_Stop_Codon_Del|EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000495963.2_5'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	172					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	p.F172fs*7(1)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		ACACACCGTTAAAAAAAAACA	0.483													7	241	---	---	---	---					
SYNE3	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)del	p.E321del	SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616													7	441	---	---	---	---					
HERC2P9	0	broad.mit.edu	37	15	28927411	28927415	+	RNA	DEL	AGGGA	AGGGA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:28927411_28927415delAGGGA	ENST00000528584.1	+	0	1811					NR_036443.1																						GTTTAAAAATagggaagggaaggga	0.463													6	7	---	---	---	---					
EMC7	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)cta>ct	p.LL16del	EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1			ER membrane protein complex subunit 7																		ATCCCCCGATAGCAGCAGCAGCA	0.665													9	754	---	---	---	---					
NOX5	79400	broad.mit.edu	37	15	69328208	69328210	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:69328208_69328210delCTG	ENST00000260364.5	+	8	1367_1369	c.1066_1068delCTG	c.(1066-1068)del	p.L362del	NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000388866.3_In_Frame_Del_p.L380del			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	380	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGGTGTCGCTCTGCTGCTGCTGC	0.626													7	652	---	---	---	---					
ZNF174	7727	broad.mit.edu	37	16	3452111	3452111	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:3452111delA	ENST00000268655.4	+	1	692	c.107delA	c.(106-108)cafs	p.Q36fs	ZNF174_ENST00000575752.1_Frame_Shift_Del_p.Q36fs|ZNF174_ENST00000571936.1_Frame_Shift_Del_p.Q36fs|ZNF174_ENST00000344823.5_Frame_Shift_Del_p.Q36fs|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000572544.1_Frame_Shift_Del_p.Q36fs	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	36					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CCTCCTCTGCAAAAAAACTGC	0.502													9	1095	---	---	---	---					
NAGPA	51172	broad.mit.edu	37	16	5083678	5083679	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:5083678_5083679delGC	ENST00000312251.3	-	2	156_157	c.137_138delGC	c.(136-138)cfs	p.R46fs	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'UTR|NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	46					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CCCGGGGGAGGCGCGCGCGCGC	0.767													7	151	---	---	---	---					
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gct>g	p.VA565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478													12	988	---	---	---	---					
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)ggg>g	p.DG57del	CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532													10	1270	---	---	---	---					
RP11-67H24.2	0	broad.mit.edu	37	16	32823636	32823637	+	RNA	INS	-	-	C	rs112857933		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:32823636_32823637insC	ENST00000569859.1	+	0	373																											TTGCTGGAGTGGATGTGACAGG	0.495													9	230	---	---	---	---					
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327													9	135	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gct>g	p.VA777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635													13	457	---	---	---	---					
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:3721809_3721811delTCC	ENST00000158149.3	-	11	1111_1113	c.216_218delGGA	c.(214-219)gaa>ga	p.EE78del	C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	358							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507													7	319	---	---	---	---					
MYOCD	93649	broad.mit.edu	37	17	12647692	12647694	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:12647692_12647694delCAG	ENST00000425538.1	+	8	1110_1112	c.910_912delCAG	c.(910-912)del	p.Q310del	MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del|MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	310	Gln-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATCCTCAGCcagcagcagcagc	0.596													8	123	---	---	---	---					
GIT1	28964	broad.mit.edu	37	17	27903281	27903281	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:27903281delG	ENST00000225394.3	-	14	1816	c.1568delC	c.(1567-1569)ctfs	p.P523fs	RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Frame_Shift_Del_p.P532fs|GIT1_ENST00000581348.1_Frame_Shift_Del_p.P532fs|GIT1_ENST00000579937.1_Frame_Shift_Del_p.P523fs	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	523					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		CTCGTCCCCAGGGGGGCCCCC	0.652													7	613	---	---	---	---					
GAS2L2	246176	broad.mit.edu	37	17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaa>ga	p.EE840del	GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616													7	307	---	---	---	---					
LRRC37A16P	0	broad.mit.edu	37	17	66141017	66141017	+	RNA	DEL	C	C	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:66141017delC	ENST00000590019.1	-	0	70																											AAGATTTCTACAAAAAAAAAA	0.323													10	153	---	---	---	---					
FAM210A	125228	broad.mit.edu	37	18	13681751	13681751	+	Frame_Shift_Del	DEL	T	T	-	rs143162930		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:13681751delT	ENST00000322247.3	-	3	713	c.326delA	c.(325-327)agfs	p.K109fs	FAM210A_ENST00000402563.1_Frame_Shift_Del_p.K109fs|FAM210A_ENST00000588475.1_5'UTR	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN	family with sequence similarity 210, member A	109						integral to membrane		p.K109fs*29(1)									AGGCTCTTCCTTTTTTTCCGG	0.433													7	662	---	---	---	---					
TNFSF9	8744	broad.mit.edu	37	19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)ggg>gg	p.GL34del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	34					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768													8	253	---	---	---	---					
C19orf55	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atc>at	p.IS213del	C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	213	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631													11	1137	---	---	---	---					
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cgg>cg	p.RK211del	ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	211					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581													7	474	---	---	---	---					
GIPR	2696	broad.mit.edu	37	19	46172779	46172780	+	Translation_Start_Site	INS	-	-	TGACTACCT			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:46172779_46172780insTGACTACCT	ENST00000590918.1	+	0	100_101				GIPR_ENST00000304207.8_Start_Codon_Ins|GIPR_ENST00000263281.3_Start_Codon_Ins	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor						generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CGCCCTCACGATGACTACCTCT	0.663													7	21	---	---	---	---					
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:50310483_50310485delCAG	ENST00000313777.4	-	11	1343_1345	c.1180_1182delCTG	c.(1180-1182)del	p.L394del	FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000445575.2_Intron	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	394	Leu-rich.				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCTGGGGAGACAGCAGCAGCAGC	0.635													11	289	---	---	---	---					
CTD-2126E3.4	0	broad.mit.edu	37	19	50578517	50578517	+	RNA	DEL	G	G	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:50578517delG	ENST00000600998.1	+	0	71																											aggaggggctgggggcctgga	0.637													8	111	---	---	---	---					
LILRB1	0	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)del	p.L479del	LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)			8	254	---	---	---	---					
ADNP	23394	broad.mit.edu	37	20	49508204	49508204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:49508204delT	ENST00000396029.3	-	5	3614	c.3047delA	c.(3046-3048)agfs	p.K1016fs	ADNP_ENST00000349014.3_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000371602.4_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000396032.3_Frame_Shift_Del_p.K1016fs	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	1016						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CATGGTAGCCTTTTTTTTGGC	0.458													13	483	---	---	---	---					
ANKRD20A11P	0	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736					NR_027270.1																						TAAAACAGCAGAAAAAATTAAT	0.272													8	217	---	---	---	---					
APP	351	broad.mit.edu	37	21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:27394182_27394184delGTG	ENST00000358918.3	-	6	1036_1038	c.837_839delCAC	c.(835-840)aca>ac	p.TT279del	APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000474136.1_5'UTR	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522													8	124	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:36689419_36689421delCCT	ENST00000216181.5	-	30	4279_4281	c.4049_4051delAGG	c.(4048-4053)gcc>g	p.EA1350del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1350				E -> EE (in Ref. 7).	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCCTC	0.650			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				8	458	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)del	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				13	703	---	---	---	---					
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:43213780delT	ENST00000263245.5	-	10	1115	c.896delA	c.(895-897)atfs	p.N299fs	ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	299					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363													12	697	---	---	---	---					
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:54011405_54011407delCTC	ENST00000338154.6	-	18	2887_2889	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831	Ser-rich.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591													10	704	---	---	---	---					
