Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GGT1	2678	broad.mit.edu	37	22	25023843	25023843	+	Silent	SNP	G	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr22:25023843G>A	uc003aan.1	+	12	1720	c.1233G>A	c.(1231-1233)ccG>ccA	p.P411P	GGT1_uc003aas.1_Silent_p.P411P|GGT1_uc003aat.1_Silent_p.P411P|GGT1_uc003aau.2_Silent_p.P411P|GGT1_uc003aav.2_Silent_p.P411P|GGT1_uc003aaw.2_Silent_p.P411P|GGT1_uc003aax.2_Silent_p.P411P|GGT1_uc003aay.1_Silent_p.P67P	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	411					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TCCGCTCCCCGGTCAGCGGGA	0.597000														312			15		0	0	1	0	0
AGAP9	642517	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	C	C			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr10:47207813T>C	uc009xnf.2	-	4	508	c.396_splice	c.e4+1	p.H132_splice	AGAP9_uc001jei.3_Splice_Site	NM_001190810	NP_001177739	D3YTF3	D3YTF3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 (AGAP9), mRNA.	132					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.H228R(20)									TTTACTTACATGGTTTGTACA	0.294000														102			6		0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38061592	38061592	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr14:38061592C>T	uc001wuf.3	-	1	709	c.397G>A	c.(397-399)Gcc>Acc	p.A133T	FOXA1_uc010tpz.2_Missense_Mutation_p.A100T	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	133					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GGGTTCATGGCGGCCGCGTAG	0.736000														119			8		0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48591918	48591918	+	Missense_Mutation	SNP	C	T	T	rs80338963		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr18:48591918C>T	uc010xdp.2	+	8	1619	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	SMAD4_uc002lfb.4_Missense_Mutation_p.R206C	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	361	MH2.		R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation).		BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.R361H(12)|p.R361C(10)|p.R361S(4)|p.?(2)|p.D360fs*24(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413000														268			34		0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	A	A	rs121913529		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr12:25398284C>A	uc001rgp.1	-	1	216	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				72			13		7.93312e-07	8.322e-07	1	1	0
CSNK1E	1454	broad.mit.edu	37	22	38690455	38690455	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr22:38690455G>A	uc003avj.3	-	7	1232	c.971C>T	c.(970-972)gCg>gTg	p.A324V	CSNK1E_uc003avk.3_Missense_Mutation_p.A324V|CSNK1E_uc003avm.2_Missense_Mutation_p.A324V	NM_152221	NP_689407	P49674	KC1E_HUMAN	Homo sapiens casein kinase 1, epsilon (CSNK1E), transcript variant 1, mRNA.	324					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GGCTCGGGTCGCGGACCCCCG	0.726000														27			3		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59195270	59195270	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr18:59195270G>A	uc010dps.1	+	5	1240	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	CDH20_uc002lif.2_Missense_Mutation_p.R357H	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	363	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CTAGAGATGCGTTTTCTGAAC	0.473000														321			34		0	0	1	0	0
RNF144A	9781	broad.mit.edu	37	2	7160800	7160800	+	Silent	SNP	C	G	G			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:7160800C>G	uc002qys.3	+	5	940	c.498C>G	c.(496-498)ccC>ccG	p.P166P		NM_014746	NP_055561	P50876	R144A_HUMAN	Homo sapiens ring finger protein 144A (RNF144A), mRNA.	166						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CCTTCCTCCCCGGGGAGACCA	0.587000														489			59		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115216697	115216697	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:115216697C>T	uc001efe.2	-	13	1954	c.1906G>A	c.(1906-1908)Gtg>Atg	p.V636M	AMPD1_uc001eff.2_Missense_Mutation_p.V632M	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	603					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TACTGTAGCACGGGACTCTGA	0.353000														163			9		0	0	1	0	0
PRKAR1B	5575	broad.mit.edu	37	7	720280	720280	+	Silent	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr7:720280C>T	uc003siu.2	-	2	394	c.261G>A	c.(259-261)ccG>ccA	p.P87P	PRKAR1B_uc021zyi.1_Silent_p.P87P|PRKAR1B_uc003siv.3_Silent_p.P87P|PRKAR1B_uc021zyj.1_Silent_p.P87P|PRKAR1B_uc021zyk.1_Silent_p.P87P|PRKAR1B_uc003siw.2_Silent_p.P87P	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	87	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	p.P87T(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CCACAGGGTTCGGGGGGGTGG	0.622000														424			52		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr22:22664743G>A	uc021wml.1	+	32		c.2843G>A			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CAGACTAAAGGCAAACAAGGA	0.498000														201			10		0	0	1	0	0
RIT1	6016	broad.mit.edu	37	1	155880296	155880296	+	Splice_Site	SNP	G	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:155880296G>T	uc001fmh.1	-	3	294	c.107_splice	c.e3-1	p.A36_splice	RIT1_uc010pgr.1_Splice_Site	NM_006912	NP_008843	Q92963	RIT1_HUMAN	Homo sapiens Ras-like without CAAX 1 (RIT1), mRNA.	36					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			GCATGGTCATGGCTTCAAAAG	0.393000														274			50		3.10996e-30	3.54006e-30	1	1	0
BBS9	27241	broad.mit.edu	37	7	33407475	33407475	+	Splice_Site	SNP	G	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr7:33407475G>A	uc003tdn.1	+	17	2302	c.1789_splice	c.e17+1	p.Q597_splice	BBS9_uc003tdo.1_Splice_Site_p.Q562_splice|BBS9_uc003tdp.1_Splice_Site_p.Q592_splice|BBS9_uc003tdq.1_Splice_Site_p.Q557_splice|BBS9_uc010kwn.1_Splice_Site|BBS9_uc003tdr.1_Splice_Site_p.Q121_splice|BBS9_uc003tds.1_Splice_Site_p.Q20_splice|BBS9_uc011kao.1_Splice_Site_p.Q475_splice	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	597					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AAAACTTCTCGTAAGTAAAAC	0.373000									Bardet-Biedl syndrome					265			14		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50405102	50405102	+	Silent	SNP	G	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr3:50405102G>A	uc003daq.3	-	26	2327	c.2289C>T	c.(2287-2289)gaC>gaT	p.D763D	CACNA2D2_uc003dap.3_Silent_p.D756D	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	763					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGATGCCACCGTCTGTGGCAG	0.642000														253			23		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071237	9071237	+	Silent	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr19:9071237C>T	uc002mkp.3	-	2	16413	c.16209G>A	c.(16207-16209)ccG>ccA	p.P5403P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5405	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5403P(3)|p.P1036P(1)		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						TGTAAGTGGCCGGTCTCTCAT	0.502000														847			48		0	0	1	0	0
GPR182	11318	broad.mit.edu	37	12	57389416	57389416	+	Silent	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr12:57389416C>T	uc021qzf.1	+	0	423	c.423C>T	c.(421-423)atC>atT	p.I141I	GPR182_uc001smk.3_Silent_p.I141I	NM_007264	NP_009195	O15218	GP182_HUMAN	Homo sapiens G protein-coupled receptor 182 (GPR182), mRNA.	141						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						ATAGCAGCATCTTCTTCCTGG	0.592000														318			35		0	0	1	0	0
TEPP	374739	broad.mit.edu	37	16	58010414	58010414	+	Silent	SNP	G	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr16:58010414G>A	uc002emv.4	+	0	76	c.39G>A	c.(37-39)ctG>ctA	p.L13L	TEPP_uc002emw.4_Silent_p.L13L	NM_199046	NP_950247	Q6URK8	TEPP_HUMAN	Homo sapiens testis, prostate and placenta expressed (TEPP), transcript variant 1, mRNA.	13						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						TTATTCTGCTGCTGTCCATAA	0.517000														422			29		0	0	1	0	0
ASH2L	9070	broad.mit.edu	37	8	37964684	37964684	+	Splice_Site	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr8:37964684C>T	uc003xkt.4	+	3	459	c.401_splice	c.e3+1	p.S134_splice	ASH2L_uc011lbk.2_Intron|ASH2L_uc003xku.4_Splice_Site_p.S40_splice|ASH2L_uc010lwa.3_Splice_Site_p.S40_splice	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	Homo sapiens ash2 (absent, small, or homeotic)-like (Drosophila) (ASH2L), transcript variant 1, mRNA.	134					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				ATAGATACCTCGTGAGTACTT	0.408000														453			33		0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13615144	13615144	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr4:13615144G>A	uc003gmz.1	-	4	1433	c.1316C>T	c.(1315-1317)aCg>aTg	p.T439M	BOD1L1_uc010idr.1_5'UTR|BOD1L1_uc010ids.1_Non-coding_Transcript	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	439	Lys-rich.						DNA binding										ACCATCTGACGTAATCTCTCC	0.383000														427			37		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802116	185802116	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:185802116A>G	uc002uph.3	+	3	2587	c.1993A>G	c.(1993-1995)Ata>Gta	p.I665V		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	665						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATCAGAATCCATATCCTTAAG	0.318000														436			13		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974182	16974182	+	RNA	SNP	C	A	A	rs144074313	by1000genomes	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:16974182C>A	uc009vow.2	+	4		c.992C>A			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GAGCATATCCCGTGGAGTACC	0.672000														44			9		2.17888e-05	2.19943e-05	1	1	0
TSHZ2	128553	broad.mit.edu	37	20	51872260	51872260	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr20:51872260C>T	uc002xwo.3	+	1	3150	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	TSHZ2_uc021wex.1_Missense_Mutation_p.R752C	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	755					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CGTGTCCAGGCGCTACCTGTT	0.512000														453			33		0	0	1	0	0
TMX4	56255	broad.mit.edu	37	20	7963022	7963022	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr20:7963022C>T	uc002wmx.1	-	7	1059	c.926G>A	c.(925-927)cGg>cAg	p.R309Q		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 4 (TMX4), mRNA.	309	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane		p.R309R(2)		endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						TACTTCCTCCCGGGTCACACC	0.582000														455			21		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948009	119948009	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr4:119948009C>T	uc010inb.3	+	2	681	c.485C>T	c.(484-486)cCg>cTg	p.P162L	SYNPO2_uc010ina.3_Missense_Mutation_p.P162L|SYNPO2_uc003icm.4_Missense_Mutation_p.P162L|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.P90L	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	162						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAAACAGGCCCGAGCTACCAA	0.547000														196			38		0	0	1	0	0
CCRN4L	25819	broad.mit.edu	37	4	139966043	139966043	+	Silent	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr4:139966043C>T	uc003ihl.3	+	2	904	c.711C>T	c.(709-711)gcC>gcT	p.A237A		NM_012118	NP_036250	Q9UK39	NOCT_HUMAN	Homo sapiens CCR4 carbon catabolite repression 4-like (S. cerevisiae) (CCRN4L), mRNA.	237					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					ATGGTTGTGCCTTATTTTTTC	0.463000														386			29		0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136872710	136872710	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:136872710G>A	uc002tuz.3	-	1	883	c.788C>T	c.(787-789)tCc>tTc	p.S263F	CXCR4_uc002tuy.3_Missense_Mutation_p.S267F|CXCR4_uc010fnk.3_Missense_Mutation_p.S248F	NM_003467	NP_003458	P61073	CXCR4_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA.	263					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	GAGGATGAAGGAGTCGATGCT	0.517000														380			13		0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9324398	9324398	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:9324398C>A	uc001apt.3	+	4	2119	c.1846C>A	c.(1846-1848)Ctg>Atg	p.L616M		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	616	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CCACACGCACCTGTGGCTGGT	0.682000														153			7		0.000157383	0.000157383	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176709307	176709307	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:176709307G>A	uc001gkz.3	+	13	5290	c.4126G>A	c.(4126-4128)Gag>Aag	p.E1376K	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1376					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCAGAGGACGAGGGGCAGAA	0.483000														277			29		0	0	1	0	0
DRG2	1819	broad.mit.edu	37	17	18003681	18003681	+	Silent	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:18003681C>T	uc002gsh.1	+	5	527	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L	DRG2_uc010vxg.1_3'UTR	NM_001388	NP_001379	P55039	DRG2_HUMAN	Homo sapiens developmentally regulated GTP binding protein 2 (DRG2), mRNA.	158	G.				signal transduction		GTP binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					TCCTAGGTCTCTGCTGGAGAA	0.577000														701			66		0	0	1	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313384	1313384	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr6:1313384C>T	uc003mtl.4	+	0	710	c.445C>T	c.(445-447)Ctc>Ttc	p.L149F		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	Homo sapiens forkhead box Q1 (FOXQ1), mRNA.	149					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|caspase regulator activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		CAACGAGTACCTCATGGGCAA	0.657000														259			14		0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102551163	102551163	+	Missense_Mutation	SNP	T	A	A	rs55793809	byFrequency	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr14:102551163T>A	uc001yku.4	-	4	1026	c.836A>T	c.(835-837)aAg>aTg	p.K279M	HSP90AA1_uc001ykv.4_Missense_Mutation_p.K401M|HSP90AA1_uc001ykw.1_Missense_Mutation_p.K100M|HSP90AA1_uc001ykx.1_Missense_Mutation_p.K268M	NM_005348	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 2, mRNA.	279					G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	ttccttaatcttcttcttctt	0.393000														174			31		0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92981637	92981637	+	Silent	SNP	A	G	G			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr15:92981637A>G	uc002bra.3	+	3	500	c.345A>G	c.(343-345)ggA>ggG	p.G115G	ST8SIA2_uc002brb.3_Silent_p.G94G	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	115					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TCCTAAAGGGAACCCTGAAGC	0.473000														828			113		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100377265	100377265	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr7:100377265A>T	uc003uwj.3	+	35	6677	c.6512A>T	c.(6511-6513)gAg>gTg	p.E2171V	ZAN_uc003uwk.3_Missense_Mutation_p.E2171V|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Intron	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2172					binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCTCTGTGAGTTCGGAGGT	0.652000														43			7		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29576089	29576089	+	Silent	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:29576089C>T	uc002hgg.3	+	29	4445	c.4062C>T	c.(4060-4062)tcC>tcT	p.S1354S	NF1_uc002hgh.3_Silent_p.S1354S|NF1_uc010csn.2_Silent_p.S1214S|NF1_uc002hgi.1_Silent_p.S387S	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1354	Poly-Ser.|Ras-GAP.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCAGTTCCTCCTCAGAATTCC	0.398000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				577			18		0	0	1	0	0
LOC100101266	100101266	broad.mit.edu	37	19	24345800	24345800	+	RNA	SNP	G	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr19:24345800G>A	uc010edb.1	-	0		c.450C>T								Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA.																		AGTGATGCTCGTTCAAACAGT	0.433000														231			22		0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995470	57995470	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr11:57995470A>G	uc010rkd.2	-	0	921	c.878T>C	c.(877-879)tTg>tCg	p.L293S		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GCTGTAAAGCAAAGGGTTGAG	0.547000														688			51		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101076206	101076206	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr8:101076206A>T	uc003yjb.1	-	7	985	c.790T>A	c.(790-792)Ttg>Atg	p.L264M	RGS22_uc003yja.1_Missense_Mutation_p.L83M|RGS22_uc003yjc.1_Missense_Mutation_p.L252M|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.L168M	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	264					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCAGAAATCAATTTGTTGGTT	0.343000														810			43		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000														294			12		0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	A	A	rs121913388		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr9:21971120G>A	uc003zpk.3	-	1	544	c.238C>T	c.(238-240)Cga>Tga	p.R80*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.R80*|CDKN2A_uc003zpl.3_Missense_Mutation_p.P94L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.R80*(200)|p.?(44)|p.P135L(7)|p.T79fs*37(2)|p.R80Q(2)|p.T79fs*65(2)|p.E61_L94del(2)|p.R80fs*34(2)|p.R80?(2)|p.T79I(2)|p.L65fs*38(1)|p.0(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.A68fs*3(1)|p.T79T(1)|p.R80L(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				91			14		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	31977552	31977552	+	RNA	SNP	C	G	G	rs116821755	by1000genomes	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr6:31977552C>G	uc021yvf.1	-	8		c.2260G>C						P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB-S, mRNA.						actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGCCGCTCCCGGTTGCCGT	0.667000														169			9		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123599604	123599604	+	Silent	SNP	C	T	T	rs146075363		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr7:123599604C>T	uc003vle.3	+	4	1550	c.1111C>T	c.(1111-1113)Cta>Tta	p.L371L	SPAM1_uc011koa.1_Silent_p.L27L|SPAM1_uc003vld.3_Silent_p.L371L|SPAM1_uc022aks.1_Silent_p.L371L|SPAM1_uc003vlf.4_Silent_p.L371L|SPAM1_uc010lku.3_Silent_p.L371L	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	371					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CAACGTCACACTAGCAGCCAA	0.378000														304			37		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65850550	65850550	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:65850550C>T	uc002jgf.3	+	1	1169	c.1108C>T	c.(1108-1110)Cag>Tag	p.Q370*	BPTF_uc002jge.3_Nonsense_Mutation_p.Q370*|BPTF_uc010wqm.1_Nonsense_Mutation_p.Q370*	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	370					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTAGTCGATCAGTTTCTTAC	0.418000														692			90		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81201475	81201475	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr15:81201475C>T	uc002bfw.1	+	12	1885	c.1625C>T	c.(1624-1626)aCg>aTg	p.T542M	KIAA1199_uc010unn.1_Missense_Mutation_p.T542M	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	542										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTGGAGGGCACGGAGCTGAAG	0.552000														288			16		0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95104903	95104903	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr13:95104903C>T	uc010afh.3	-	6	1620	c.1193G>A	c.(1192-1194)cGt>cAt	p.R398H	DCT_uc001vlv.4_Intron	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.	394					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		gtaaagcaaacgattagaaat	0.274000														105			13		0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000														60			15		6.31663e-08	6.69187e-08	1	1	0
QTRTD1	79691	broad.mit.edu	37	3	113804663	113804663	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr3:113804663A>G	uc003eaz.3	+	8	1282	c.1196A>G	c.(1195-1197)tAc>tGc	p.Y399C	QTRTD1_uc003eay.3_Missense_Mutation_p.Y387C|QTRTD1_uc011biq.2_Missense_Mutation_p.Y264C|QTRTD1_uc011bir.2_Missense_Mutation_p.Y281C	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase domain containing 1 (QTRTD1), mRNA.	387					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						TTTGAACACTACTTTGGGTTT	0.463000														565			30		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:7577046C>A	uc002gim.2	-	7	1086	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Nonsense_Mutation_p.E298*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.E166*|TP53_uc010cnf.1_Nonsense_Mutation_p.E166*|TP53_uc002gii.1_Nonsense_Mutation_p.E166*|TP53_uc010cni.1_Nonsense_Mutation_p.E298*|TP53_uc010cnh.1_Nonsense_Mutation_p.E298*|TP53_uc002gij.2_Nonsense_Mutation_p.E298*|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	298	Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E298*(97)|p.0?(8)|p.H297Y(5)|p.E298K(3)|p.?(2)|p.L265_K305del41(2)|p.E298fs*53(2)|p.E298V(2)|p.E298Q(2)|p.E298_P301delELPP(2)|p.H296_S303delHHELPPGS(2)|p.L299fs*2(1)|p.H297fs*48(1)|p.E298A(1)|p.H297P(1)|p.G293fs*1(1)|p.H297N(1)|p.E298fs*47(1)|p.E298E(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)		GGGGGCAGCTCGTGGTGAGGC	0.567000		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)				340			36		6.97489e-18	7.85593e-18	1	1	0
PLA2G4E	123745	broad.mit.edu	37	15	42276761	42276761	+	Silent	SNP	G	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr15:42276761G>A	uc021sjp.1	-	18	2259	c.2259C>T	c.(2257-2259)taC>taT	p.Y753Y	PLA2G4E_uc010udc.2_Silent_p.Y196Y|PLA2G4E_uc001zov.2_Silent_p.Y377Y	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	741	PLA2c.			C -> Y (in Ref. 1; BAC87034).	phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CTGGCAGCTCGTATTTGGGGA	0.522000														241			11		0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15662205	15662205	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr19:15662205C>T	uc002nbh.4	+	13	1686	c.1519C>T	c.(1519-1521)Cgg>Tgg	p.R507W		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	507						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GCGCAAGGTGCGGCGGAAGCC	0.672000														75			5		0	0	1	0	0
MYOZ1	58529	broad.mit.edu	37	10	75391860	75391860	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr10:75391860G>T	uc001jur.3	-	5	1093	c.728C>A	c.(727-729)cCc>cAc	p.P243H		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	Homo sapiens myozenin 1 (MYOZ1), mRNA.	243					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					GTCAAACTTGGGCATCTGGAA	0.493000														340			13		1.49906e-05	1.52761e-05	1	1	0
SLC52A1	55065	broad.mit.edu	37	17	4937373	4937373	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:4937373G>T	uc002gap.4	-	2	1124	c.411C>A	c.(409-411)agC>agA	p.S137R	SLC52A1_uc002gao.4_Missense_Mutation_p.S137R|SLC52A1_uc010ckw.3_Missense_Mutation_p.S15R|SLC52A1_uc010ckx.3_Missense_Mutation_p.S137R	NM_001104577	NP_060456	Q9NWF4	RFT_HUMAN	Homo sapiens G protein-coupled receptor 172B (GPR172B), transcript variant 1, mRNA.	137						integral to plasma membrane	receptor activity|riboflavin transporter activity										GTGGCAGGTGGCTCAGGAAGG	0.592000														519			47		6.87076e-12	7.50175e-12	1	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77353780	77353780	+	Missense_Mutation	SNP	G	A	A	rs147816593		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr16:77353780G>A	uc002ffc.4	-	15	2917	c.2498C>T	c.(2497-2499)gCg>gTg	p.A833V	ADAMTS18_uc010chc.1_Missense_Mutation_p.A421V|ADAMTS18_uc002ffe.1_Missense_Mutation_p.A529V	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	833	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Y832Y(2)|p.A833A(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGGCCCTGGCGCGTACAGACG	0.542000														460			28		0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150529196	150529196	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:150529196G>A	uc009wlw.3	+	9	1903	c.1745G>A	c.(1744-1746)cGt>cAt	p.R582H	ADAMTSL4_uc001euw.3_Missense_Mutation_p.R559H|ADAMTSL4_uc001eux.3_Missense_Mutation_p.R559H|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.R582H|ADAMTSL4_uc009wlx.3_5'Flank	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	559					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CGATATAACCGTCCTCCCAGG	0.647000														865			46		0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26854341	26854341	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:26854341C>T	uc010crm.3	+	3	859	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	FOXN1_uc002hbj.3_Nonsense_Mutation_p.Q221*	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	221					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GCCTCCCTTGCAGCATATGTA	0.572000														164			6		0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116616325	116616325	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr8:116616325C>T	uc003yny.3	-	3	2449	c.1871G>A	c.(1870-1872)cGa>cAa	p.R624Q	TRPS1_uc011lhy.2_Missense_Mutation_p.R615Q|TRPS1_uc003ynz.3_Missense_Mutation_p.R611Q|TRPS1_uc010mcy.3_Missense_Mutation_p.R611Q	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	611					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATGTTTGACTCGCGAGCTTCC	0.478000									Langer-Giedion syndrome					305			56		0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131477728	131477728	+	Silent	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr9:131477728C>T	uc004bvw.3	+	14	2190	c.1797C>T	c.(1795-1797)gaC>gaT	p.D599D	PKN3_uc010myh.3_Silent_p.D599D|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	599	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	p.D599D(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						TCAGCCGGGACGAGATAGAGA	0.612000														255			13		0	0	1	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	Silent	SNP	G	A	A	rs150520281	by1000genomes	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr16:21817457G>A	uc010vbl.1	-	6	603	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	LOC23117_uc021tel.1_Intron					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																		CTTACATCCAGCTTGAGTAGT	0.259000														88			6		0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	53564378	53564378	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr10:53564378G>A	uc001jjm.3	+	3	809	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	PRKG1_uc001jjn.2_Missense_Mutation_p.R209Q|PRKG1_uc001jjo.3_Missense_Mutation_p.R209Q	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	194					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GCCATTGATCGACAATGTTTT	0.338000														267			31		0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413570	68413570	+	RNA	SNP	G	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr9:68413570G>A	uc004aex.3	+	0		c.125G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		CCCCAGTGGCGCCGGATCTAG	0.602000														20			3		0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49288724	49288724	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr15:49288724C>A	uc001zxe.2	-	16	2727	c.2463G>T	c.(2461-2463)atG>atT	p.M821I	SECISBP2L_uc001zxd.2_Missense_Mutation_p.M776I|SECISBP2L_uc010bep.2_Missense_Mutation_p.M583I	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	821										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTGCTGCAACCATATCTTTAT	0.408000														780			36		1.30998e-17	1.46009e-17	1	1	0
IGSF9	57549	broad.mit.edu	37	1	159900160	159900160	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:159900160C>T	uc001fur.2	-	14	2081	c.1883G>A	c.(1882-1884)cGg>cAg	p.R628Q	IGSF9_uc001fuq.2_Missense_Mutation_p.R612Q|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	628	Fibronectin type-III 2.					cell junction|integral to membrane|synapse		p.R612L(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CACCAGACCCCGCGGAGGGGA	0.652000														525			135		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115079348	115079348	+	RNA	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:115079348C>T	uc001eez.3	-	28		c.4295G>A				NM_198459		Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.											NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCGTTCATCCGCAAGGCATC	0.522000														355			18		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr22:44083357C>T	uc003bdy.2	-	10	1450	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_uc003bdz.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.R376K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308000														128			22		0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38187221	38187221	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr8:38187221G>T	uc003xli.3	-	5	1774	c.1256C>A	c.(1255-1257)aCc>aAc	p.T419N	WHSC1L1_uc011lbm.2_Missense_Mutation_p.T419N|WHSC1L1_uc010lwe.3_Missense_Mutation_p.T419N|WHSC1L1_uc003xlj.3_Missense_Mutation_p.T419N	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	419					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGGTCGTCGGGTTTTTTTAAC	0.433000			T	NUP98	AML									425			19		8.34094e-07	8.66486e-07	1	1	0
GRIN2D	2906	broad.mit.edu	37	19	48919318	48919318	+	Silent	SNP	C	T	T	rs148340456	byFrequency	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr19:48919318C>T	uc002pjc.4	+	6	1729	c.1641C>T	c.(1639-1641)tcC>tcT	p.S547S		NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	547						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	AGGAGCGCTCCGAGATCGTGG	0.662000														423			26		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136564940	136564940	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:136564940G>A	uc002tuu.1	-	8	3942	c.3931C>T	c.(3931-3933)Cga>Tga	p.R1311*		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1311	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ACATACCCTCGAAGGTCTATA	0.522000														444			36		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528604	57528604	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr7:57528604A>T	uc011kdi.1	+	3	549	c.437A>T	c.(436-438)aAc>aTc	p.N146I		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AATTATGTTAACCAATGTTTG	0.343000														148			8		0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240511	39240511	+	Missense_Mutation	SNP	A	T	T	rs383835	by1000genomes	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:39240511A>T	uc010wfn.2	+	0	53	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGCAGCCAAGACCTCTGTCAG	0.612000														235			9		0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159163257	159163257	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:159163257C>T	uc001ftl.2	+	3	606	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	CADM3_uc009wsx.1_Missense_Mutation_p.R177W|CADM3_uc009wsy.1_Missense_Mutation_p.R143W|CADM3_uc001ftk.2_Missense_Mutation_p.R177W	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	143	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ATCTTCATTACGGGAAAAAGA	0.532000														345			84		0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240504	39240504	+	Missense_Mutation	SNP	A	G	G	rs11655310	by1000genomes	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:39240504A>G	uc010wfn.2	+	0	46	c.46A>G	c.(46-48)Agc>Ggc	p.S16G		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.									p.S16G(3)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CCAGGGCTGCAGCCAAGACCT	0.607000														216			10		0	0	1	0	0
MYOZ1	58529	broad.mit.edu	37	10	75391861	75391861	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr10:75391861G>T	uc001jur.3	-	5	1092	c.727C>A	c.(727-729)Ccc>Acc	p.P243T		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	Homo sapiens myozenin 1 (MYOZ1), mRNA.	243					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					TCAAACTTGGGCATCTGGAAG	0.488000														335			13		1.49906e-05	1.52761e-05	1	1	0
SLC28A1	9154	broad.mit.edu	37	15	85461805	85461805	+	Silent	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr15:85461805C>T	uc002blg.3	+	9	1048	c.846C>T	c.(844-846)caC>caT	p.H282H	SLC28A1_uc010upd.1_Silent_p.H204H|SLC28A1_uc010bnb.3_Silent_p.H282H|SLC28A1_uc010upe.2_Silent_p.H282H|SLC28A1_uc010upf.1_Silent_p.H282H|SLC28A1_uc010upg.1_Silent_p.H282H	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	282					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTCTCTACCACGTGGGCCTCA	0.562000														752			41		0	0	1	0	0
SMCR7	125170	broad.mit.edu	37	17	18167830	18167830	+	Silent	SNP	C	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:18167830C>T	uc010vxq.2	+	3	1176	c.1150C>T	c.(1150-1152)Cta>Tta	p.L384L	SMCR7_uc002gsu.3_3'UTR|SMCR7_uc002gst.3_Silent_p.L373L	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	373						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					TCTGGGGCAGCTAGGCCGGGG	0.677000														630			18		0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22656721	22656721	+	Splice_Site	SNP	G	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr21:22656721G>A	uc002yld.2	+	3	586	c.337_splice	c.e3+1	p.Q113_splice	NCAM2_uc011acb.2_Intron|NCAM2_uc011acc.2_Splice_Site_p.Q138_splice	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	113	Ig-like C2-type 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane		p.?(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GAAATTTACCGTAAGTAATGT	0.294000														121			6		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17086940	17086941	+	Frame_Shift_Del	DEL	AC	-	-	rs28462251		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:17086940_17086941delAC	uc010ock.2	-	3	383_384	c.383_384delGT	c.(382-384)cgtfs	p.R128fs	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'Flank					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.R128H(1)|p.R133H(1)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CATCAGGGTTACGGCAGAAGTT	0.629													---	94	---	---	7	---					
UBXN11	91544	broad.mit.edu	37	1	26608843	26608844	+	In_Frame_Ins	INS	-	GGGACA	GGGACA	rs6667693	by1000genomes	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:26608843_26608844insGGGACA	uc001blw.3	-	15	1782_1783	c.1509_1510insTGTCCC	c.(1507-1512)insTGTCCC	p.503_504insCP	UBXN11_uc001bly.3_In_Frame_Ins_p.383_384insCP|UBXN11_uc001blz.1_Intron|UBXN11_uc001blx.3_In_Frame_Ins_p.261_262insCP|UBXN11_uc001bma.3_In_Frame_Ins_p.470_471insCP	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA.	503	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.					cytoplasm|cytoskeleton		p.P503_G504insCP(2)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ggaccgggaccgggactggggc	0.733													---	179	---	---	8	---					
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:145415369_145415371delGAG	uc001eni.2	+	2	513_515	c.188_190delGAG	c.(187-192)cgagga>cga	p.G69del	HFE2_uc001enk.2_5'UTR|HFE2_uc001enj.2_Intron|HFE2_uc001enl.2_Intron|HFE2_uc021oux.1_5'Flank	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	69	Poly-Gly.			G -> GG (in Ref. 3; ABC40718).	axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCACTTCGAGGAGGAGGAGG	0.626													---	388	---	---	10	---					
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:147091501delC	uc001epq.3	+	7	2280	c.1540delC	c.(1540-1542)cccfs	p.P514fs	BCL9_uc010ozr.1_Frame_Shift_Del_p.P440fs	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	514	Poly-Pro.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL								---	866	---	---	16	---					
ISG20L2	81875	broad.mit.edu	37	1	156694023	156694023	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:156694023delG	uc001fps.1	-	1	1126	c.865delC	c.(865-867)ctcfs	p.L289fs	ISG20L2_uc001fpt.1_Frame_Shift_Del_p.L289fs	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	Homo sapiens interferon stimulated exonuclease gene 20kDa-like 2 (ISG20L2), mRNA.	289	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCCGGTTGAGGGGGGGGATA	0.557													---	569	---	---	8	---					
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254156	+	In_Frame_Del	DEL	GGA	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:161254154_161254156delGGA	uc001gad.3	+	2	338_340	c.90_92delGGA	c.(88-93)gcggag>gcg	p.E35del		NM_001102566	NP_001096036	A6NKN8	PC4L1_HUMAN	Homo sapiens Purkinje cell protein 4 like 1 (PCP4L1), mRNA.	35								p.E35delE(2)|p.A30A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAAGAAGGCGGAGGAGGAGGAG	0.488													---	467	---	---	9	---					
POU2F1	5451	broad.mit.edu	37	1	167385016	167385018	+	In_Frame_Del	DEL	CCA	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:167385016_167385018delCCA	uc001gec.3	+	16	2440_2442	c.2201_2203delCCA	c.(2200-2205)tccacc>tcc	p.T738del	POU2F1_uc001gee.3_In_Frame_Del_p.T761del|POU2F1_uc010plh.2_In_Frame_Del_p.T698del|POU2F1_uc001ged.3_In_Frame_Del_p.T736del|POU2F1_uc001gef.3_In_Frame_Del_p.T750del|POU2F1_uc001geg.3_Intron	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	738					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGGGCTGCGTCCACCACCACCAC	0.601													---	1205	---	---	9	---					
APOBEC4	403314	broad.mit.edu	37	1	183616826	183616828	+	In_Frame_Del	DEL	TTC	-	-	rs141411396		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:183616826_183616828delTTC	uc021pgc.1	-	0	1089_1091	c.1089_1091delGAA	c.(1087-1092)aagaaa>aaa	p.363_364KK>K	RGL1_uc010pof.1_Intron|RGL1_uc001gqm.3_Intron|RGL1_uc010pog.2_Intron|RGL1_uc010poh.2_Intron|APOBEC4_uc001gqn.3_In_Frame_Del_p.363_364KK>K	NM_203454	NP_982279	Q8WW27	ABEC4_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) (APOBEC4), mRNA.	363					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTCTTCCCTTTCTTCTTCTTCT	0.419													---	762	---	---	7	---					
PPP2R5A	5525	broad.mit.edu	37	1	212534111	212534111	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:212534111delA	uc001hjb.3	+	12	2034	c.1460delA	c.(1459-1461)taafs	p.*487fs	PPP2R5A_uc010ptd.2_Frame_Shift_Del_p.*430fs	NM_006243	NP_006234	Q15172	2A5A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', alpha (PPP2R5A), transcript variant 1, mRNA.	0					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		AGTGCCGAATAAAAAAAAAGC	0.328													---	288	---	---	9	---					
USP34	9736	broad.mit.edu	37	2	61575023	61575025	+	In_Frame_Del	DEL	TGG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:61575023_61575025delTGG	uc002sbe.3	-	14	2287_2289	c.2265_2267delCCA	c.(2263-2268)caccat>cat	p.755_756HH>H		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	755					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			gtggtggtgatggtggtggtggt	0.389													---	338	---	---	8	---					
OTX1	5013	broad.mit.edu	37	2	63283259	63283261	+	In_Frame_Del	DEL	CCA	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:63283259_63283261delCCA	uc021vim.1	+	4	1149_1151	c.873_875delCCA	c.(871-876)ggccac>ggc	p.H301del	OTX1_uc002scd.3_In_Frame_Del_p.H301del|OTX1_uc010ypt.2_In_Frame_Del_p.H235del	NM_001199770	NP_001186699	P32242	OTX1_HUMAN	Homo sapiens orthodenticle homeobox 1 (OTX1), transcript variant 2, mRNA.	301	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													---	479	---	---	11	---					
MAP4K4	9448	broad.mit.edu	37	2	102314997	102314998	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:102314997_102314998insA	uc002tbc.3	+	1	498_499	c.120_121insA	c.(118-123)tataagfs	p.Y40fs	MAP4K4_uc002tbf.3_Frame_Shift_Ins_p.Y40fs|MAP4K4_uc002tbd.3_Frame_Shift_Ins_p.Y40fs|MAP4K4_uc010yvy.2_Frame_Shift_Ins_p.Y40fs|MAP4K4_uc002tbh.3_Frame_Shift_Ins_p.Y40fs|MAP4K4_uc002tbg.3_Frame_Shift_Ins_p.Y40fs|MAP4K4_uc002tbi.3_Frame_Shift_Ins_p.Y40fs	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	40	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GACAAGTCTATAAGGTCGGTGT	0.515													---	1145	---	---	75	---					
SULT1C3	442038	broad.mit.edu	37	2	108863685	108863685	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:108863685delA	uc010ywo.2	+	0	35	c.35delA	c.(34-36)gaafs	p.E12fs		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	12						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCCACGATGGAAAAAAAGCCA	0.353													---	489	---	---	8	---					
ACVR2A	92	broad.mit.edu	37	2	148657040	148657041	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:148657040_148657041insA	uc002twg.3	+	3	546_547	c.277_278insA	c.(277-279)gaafs	p.E93fs	ACVR2A_uc010zbn.2_5'UTR|ACVR2A_uc002twh.3_Frame_Shift_Ins_p.E93fs	NM_001616	NP_001607	P27037	AVR2A_HUMAN	Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA.	93					BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGATTGTGTAGAAAAAAAAGAC	0.302													---	436	---	---	7	---					
TNS1	7145	broad.mit.edu	37	2	218712887	218712889	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:218712887_218712889delGCT	uc002vgt.2	-	16	2374_2376	c.1976_1978delAGC	c.(1975-1980)cagcct>cct	p.Q659del	TNS1_uc002vgr.2_In_Frame_Del_p.Q659del|TNS1_uc002vgs.2_In_Frame_Del_p.Q659del|TNS1_uc010zjv.1_In_Frame_Del_p.Q659del|TNS1_uc010fvj.1_In_Frame_Del_p.Q727del|TNS1_uc010fvk.1_In_Frame_Del_p.Q784del|TNS1_uc010fvi.1_In_Frame_Del_p.Q346del	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	659	Gln-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTGGGCGAGgctgctgctgctg	0.660													---	175	---	---	9	---					
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:242738494_242738496delTCC	uc002wcj.1	+	1	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 2 (GAL3ST2), mRNA.	20					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631													---	421	---	---	8	---					
QRICH1	54870	broad.mit.edu	37	3	49094314	49094316	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr3:49094314_49094316delTGC	uc010hkq.3	-	3	1613_1615	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_uc003cvu.3_In_Frame_Del_p.439_440QQ>Q|QRICH1_uc003cvv.3_In_Frame_Del_p.439_440QQ>Q|QRICH1_uc021wxr.1_In_Frame_Del_p.376_377QQ>Q	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	439	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562													---	476	---	---	7	---					
MST1	4485	broad.mit.edu	37	3	49723112	49723112	+	Frame_Shift_Del	DEL	T	-	-	rs11288337		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr3:49723112delT	uc003cxg.3	-	10	1376	c.1304delA	c.(1303-1305)aacfs	p.N435fs	MST1_uc011bcs.1_Frame_Shift_Del_p.T474fs	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	421	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCATCTGGGTTCCGGCAGAA	0.587													---	337	---	---	8	---					
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr3:55733470_55733472delTGG	uc021wzo.1	-	14	2921_2923	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_In_Frame_Del_p.923_924HH>H	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	927	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													---	1159	---	---	10	---					
RG9MTD1	54931	broad.mit.edu	37	3	101284009	101284009	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr3:101284009delA	uc003duz.3	+	1	532	c.384delA	c.(382-384)gcafs	p.A128fs	RG9MTD1_uc021xbw.1_Frame_Shift_Del_p.A128fs	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 1 (RG9MTD1), nuclear gene encoding mitochondrial protein, mRNA.	128					tRNA processing	mitochondrion	methyltransferase activity|protein binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	16						CTAACACAGCaaaaaaaaaat	0.343													---	162	---	---	8	---					
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	-	-	rs2622736	byFrequency	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr3:137880741_137880743delTCG	uc003erv.3	-	7	1777_1779	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_uc003eru.3_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.3_In_Frame_Del_p.309_310DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	541						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394													---	468	---	---	9	---					
DBR1	51163	broad.mit.edu	37	3	137880744	137880746	+	In_Frame_Del	DEL	TCA	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr3:137880744_137880746delTCA	uc003erv.3	-	7	1774_1776	c.1620_1622delTGA	c.(1618-1623)gatgac>gac	p.540_541DD>D	DBR1_uc003eru.3_In_Frame_Del_p.489_490DD>D|DBR1_uc003ert.3_In_Frame_Del_p.308_309DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	540						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AGCTGCATCGTCATCATCATCAT	0.399													---	497	---	---	8	---					
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr3:151148114_151148116delCAG	uc003eyp.3	+	41	6460_6462	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_uc011bnz.2_In_Frame_Del_p.Q1779del	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	2115	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527													---	500	---	---	10	---					
EIF4G1	1981	broad.mit.edu	37	3	184039744	184039746	+	In_Frame_Del	DEL	GAA	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr3:184039744_184039746delGAA	uc003fnp.3	+	9	1643_1645	c.1372_1374delGAA	c.(1372-1374)gaadel	p.E465del	EIF4G1_uc003fno.2_In_Frame_Del_p.E406del|EIF4G1_uc010hxw.2_In_Frame_Del_p.E301del|EIF4G1_uc010hxx.3_In_Frame_Del_p.E472del|EIF4G1_uc003fnt.3_In_Frame_Del_p.E176del|EIF4G1_uc010hxy.3_In_Frame_Del_p.E472del|EIF4G1_uc003fnq.3_In_Frame_Del_p.E378del|EIF4G1_uc003fnr.3_In_Frame_Del_p.E301del|EIF4G1_uc003fns.3_In_Frame_Del_p.E425del|EIF4G1_uc003fnv.4_In_Frame_Del_p.E465del|EIF4G1_uc003fnw.3_In_Frame_Del_p.E472del|EIF4G1_uc003fnx.3_In_Frame_Del_p.E269del	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	465	Poly-Glu.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGGAAATGgaagaagaagaag	0.562													---	576	---	---	12	---					
LIMCH1	22998	broad.mit.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr4:41648508_41648509delGA	uc003gvz.4	+	16	2835_2836	c.2418_2419delGA	c.(2416-2421)cggagafs	p.R806fs	LIMCH1_uc003gwe.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvu.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvv.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvw.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvx.4_Frame_Shift_Del_p.R409fs|LIMCH1_uc003gvy.4_Frame_Shift_Del_p.R250fs|LIMCH1_uc003gwa.4_Frame_Shift_Del_p.R262fs|LIMCH1_uc011byu.2_Frame_Shift_Del_p.R255fs|LIMCH1_uc003gwc.4_Frame_Shift_Del_p.R267fs|LIMCH1_uc003gwd.4_Frame_Shift_Del_p.R255fs|LIMCH1_uc011byv.2_Frame_Shift_Del_p.R172fs	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	421	Glu-rich.				actomyosin structure organization		actin binding|zinc ion binding	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465													---	531	---	---	8	---					
BMP2K	55589	broad.mit.edu	37	4	79792161	79792169	+	In_Frame_Del	DEL	CAGCACCAC	-	-	rs2114202	byFrequency	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr4:79792161_79792169delCAGCACCAC	uc003hlk.3	+	10	1622_1630	c.1456_1464delCAGCACCAC	c.(1456-1464)cagcaccacdel	p.QHH486del	BMP2K_uc010ijl.1_Non-coding_Transcript|BMP2K_uc003hlj.3_In_Frame_Del_p.QHH486del|BMP2K_uc003hll.3_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	486	Gln/His-rich.		Q -> H (in dbSNP:rs2114202).	Missing (in Ref. 2; CAB70863).		nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcagcagcagcagcaccaccaccaccacc	0.488													---	250	---	---	10	---					
PRDM8	56978	broad.mit.edu	37	4	81123250	81123252	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr4:81123250_81123252delCAG	uc010ijo.3	+	7	1473_1475	c.634_636delCAG	c.(634-636)cagdel	p.Q217del	PRDM8_uc003hmb.4_In_Frame_Del_p.Q217del|PRDM8_uc003hmc.4_In_Frame_Del_p.Q217del	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	217	Gly-rich.|Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						tggcaaagaccagcagcagcagc	0.655											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	361	---	---	9	---					
PKD2	5311	broad.mit.edu	37	4	88986559	88986559	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr4:88986559delA	uc003hre.3	+	10	2239	c.2152delA	c.(2152-2154)aaafs	p.K718fs	PKD2_uc011cdf.2_Frame_Shift_Del_p.K136fs|PKD2_uc011cdg.2_Frame_Shift_Del_p.K44fs|PKD2_uc011cdh.2_5'UTR	NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	718	EF-hand domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ACTAAAACTGAAAAAAAATAC	0.383													---	599	---	---	12	---					
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr4:134073569_134073571delCTG	uc003iha.3	+	0	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctctgc>ctc	p.C763del	PCDH10_uc003igz.3_In_Frame_Del_p.C763del	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	763	Cys-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581													---	314	---	---	8	---					
SORBS2	8470	broad.mit.edu	37	4	186544620	186544622	+	In_Frame_Del	DEL	GGT	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr4:186544620_186544622delGGT	uc003iyg.3	-	12	2323_2325	c.2291_2293delACC	c.(2290-2295)caccgc>cgc	p.H764del	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_In_Frame_Del_p.H750del|SORBS2_uc003iyl.3_In_Frame_Del_p.H650del|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_In_Frame_Del_p.H554del|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	650						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATGAggtggcggtggtggtggtg	0.522													---	392	---	---	8	---					
FAT1	2195	broad.mit.edu	37	4	187557935	187557935	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr4:187557935delT	uc003izf.3	-	4	3964	c.3776delA	c.(3775-3777)aagfs	p.K1259fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1259	Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCGGTCTGGCTTTTCCCGCTC	0.468										HNSCC(5;0.00058)			---	1301	---	---	10	---					
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr5:24492973delA	uc003jgr.2	-	9	2083	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	526	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F525V(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)			---	951	---	---	10	---					
PDZD2	23037	broad.mit.edu	37	5	32089076	32089076	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr5:32089076delA	uc003jhl.3	+	19	5910	c.5522delA	c.(5521-5523)caafs	p.Q1841fs	PDZD2_uc003jhm.3_Frame_Shift_Del_p.Q1841fs	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1841					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.V1845fs*6(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGTTCAAGCCAAAAAAAGGGC	0.478													---	478	---	---	8	---					
PDZD2	23037	broad.mit.edu	37	5	32090059	32090061	+	In_Frame_Del	DEL	TCC	-	-	rs61744453	by1000genomes	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr5:32090059_32090061delTCC	uc003jhl.3	+	19	6893_6895	c.6505_6507delTCC	c.(6505-6507)tccdel	p.S2173del	PDZD2_uc003jhm.3_In_Frame_Del_p.S2173del	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2173	Ser-rich.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAAACTGGCGTCCTCCTCCTCCT	0.527													---	851	---	---	7	---					
ZFR	51663	broad.mit.edu	37	5	32419951	32419953	+	In_Frame_Del	DEL	GGT	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr5:32419951_32419953delGGT	uc003jhr.1	-	2	473_475	c.393_395delACC	c.(391-396)ccaccc>ccc	p.131_132PP>P	ZFR_uc010iun.1_In_Frame_Del_p.131_132PP>P	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	131	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTAGCTGGGGGTGGTGGTGGTG	0.483													---	1070	---	---	13	---					
FGF10	2255	broad.mit.edu	37	5	44388715	44388717	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr5:44388715_44388717delAGC	uc003jog.1	-	0	68_70	c.68_70delGCT	c.(67-72)tgcttt>ttt	p.C23del		NM_004465	NP_004456	O15520	FGF10_HUMAN	Homo sapiens fibroblast growth factor 10 (FGF10), mRNA.	23					ERK1 and ERK2 cascade|actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of Ras protein signal transduction|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537													---	320	---	---	8	---					
EPB41L4A	64097	broad.mit.edu	37	5	111506659	111506660	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr5:111506659_111506660delCT	uc003kpv.1	-	18	1926_1927	c.1652_1653delAG	c.(1651-1653)gagfs	p.E551fs	EPB41L4A_uc003kpp.1_Frame_Shift_Del_p.E178fs|EPB41L4A_uc003kpu.1_5'Flank	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	551						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GCTTCCATAACTCTTCTTTTGC	0.347													---	326	---	---	15	---					
ZNF608	57507	broad.mit.edu	37	5	124079813	124079815	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr5:124079813_124079815delCTC	uc003ktq.1	-	0	1051_1053	c.868_870delGAG	c.(868-870)gagdel	p.E290del	ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003kts.1_In_Frame_Del_p.E290del|ZNF608_uc003ktt.1_In_Frame_Del_p.E290del	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	290						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522													---	1240	---	---	8	---					
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	-	-	rs72552721		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr5:131676327delT	uc003kwq.3	+	8	1679	c.1514delT	c.(1513-1515)cttfs	p.L505fs	LOC553103_uc021ydj.1_Intron	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA.	505					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ATCCTCACCCTTTTTTTCCCT	0.418													---	777	---	---	10	---					
PCDHB4	56131	broad.mit.edu	37	5	140502486	140502487	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr5:140502486_140502487insA	uc003lip.1	+	0	906_907	c.906_907insA	c.(904-909)ttgaaafs	p.L302fs		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	302	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.K305fs*12(1)|p.K303K(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACTGTTGAAAAAAAAATT	0.366													---	750	---	---	11	---					
RBM24	221662	broad.mit.edu	37	6	17292126	17292128	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr6:17292126_17292128delGCT	uc003nbz.4	+	3	491_493	c.487_489delGCT	c.(487-489)gctdel	p.A172del	RBM24_uc003nby.4_3'UTR|RBM24_uc011dix.2_In_Frame_Del_p.A114del|RBM24_uc003nca.3_In_Frame_Del_p.A127del|RBM24_uc011diy.2_In_Frame_Del_p.L80del|RBM24_uc011diz.2_In_Frame_Del_p.L65del	NM_001143942	NP_001137413	Q9BX46	RBM24_HUMAN	Homo sapiens RNA binding motif protein 24 (RBM24), transcript variant 1, mRNA.	172	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			ATACTCAGCAgctgctgctgctg	0.606													---	470	---	---	7	---					
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr6:41621169_41621171delCTG	uc003oqq.4	+	4	804_806	c.597_599delCTG	c.(595-600)ctctgc>ctc	p.C204del	MDFI_uc010jxn.3_In_Frame_Del_p.C204del	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	204	Cys-rich.				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655													---	600	---	---	9	---					
RUNX2	860	broad.mit.edu	37	6	45390446	45390448	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr6:45390446_45390448delCAG	uc011dvx.2	+	2	385_387	c.175_177delCAG	c.(175-177)cagdel	p.Q71del	RUNX2_uc011dvy.2_In_Frame_Del_p.Q71del|RUNX2_uc003oxt.3_In_Frame_Del_p.Q57del	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	71	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcaacagcagcagcagc	0.729													---	229	---	---	12	---					
MAP3K7	6885	broad.mit.edu	37	6	91296568	91296570	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr6:91296568_91296570delGAG	uc003pnz.1	-	0	338_340	c.33_35delCTC	c.(31-36)tcctcg>tcg	p.11_12SS>S	MAP3K7_uc003pob.1_In_Frame_Del_p.11_12SS>S|MAP3K7_uc003poa.1_In_Frame_Del_p.11_12SS>S|MAP3K7_uc003poc.1_In_Frame_Del_p.11_12SS>S	NM_145331	NP_663304	O43318	M3K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA.	11	Poly-Ser.				I-kappaB phosphorylation|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGCCGAAGACGAGGAGGAGGAGG	0.655													---	136	---	---	8	---					
MCHR2	84539	broad.mit.edu	37	6	100382358	100382358	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr6:100382358delA	uc003pqh.1	-	4	938	c.623delT	c.(622-624)ttcfs	p.F208fs	MCHR2_uc003pqi.1_Frame_Shift_Del_p.F208fs	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	208						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F208fs*5(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGGTAGAGGGAAAAAAAAAGT	0.343													---	421	---	---	7	---					
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr6:155743925_155743926delCA	uc003qqm.3	-	9	1313_1314	c.1210_1211delTG	c.(1210-1212)tgcfs	p.C404fs		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	404							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.530													---	824	---	---	7	---					
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	-	-	rs10951154	byFrequency	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr7:27135314_27135316delCGA	uc003sye.3	-	0	310_312	c.216_218delTCG	c.(214-219)catcgc>cac	p.R73del	HOXA1_uc003syd.3_In_Frame_Del_p.R73del|HOXA1_uc022aao.1_In_Frame_Del_p.R73del|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	73	Poly-His.		H -> R (frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154).			nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.650											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	439	---	---	8	---					
MEPCE	56257	broad.mit.edu	37	7	100028823	100028825	+	In_Frame_Del	DEL	CCA	-	-	rs71555278		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr7:100028823_100028825delCCA	uc003uuw.3	+	0	1570_1572	c.1182_1184delCCA	c.(1180-1185)cgccac>cgc	p.H399del	ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_5'UTR|MEPCE_uc022aio.1_5'UTR|MEPCE_uc003uuv.3_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	399							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGAGGCCGCCACCACCACCAC	0.581													---	445	---	---	12	---					
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	-	-	rs3055861		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr8:41166638_41166640delGCT	uc003xnt.3	-	0	351_353	c.39_41delAGC	c.(37-42)gcagcc>gcc	p.13_14AA>A		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	Homo sapiens secreted frizzled-related protein 1 (SFRP1), mRNA.	13					DNA fragmentation involved in apoptotic nuclear change|brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of B cell differentiation|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|negative regulation of androgen receptor signaling pathway|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of Rac GTPase activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764													---	18	---	---	12	---					
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr8:41798420_41798422delCTC	uc010lxb.3	-	15	3521_3523	c.2977_2979delGAG	c.(2977-2979)gagdel	p.E993del	KAT6A_uc010lxc.3_In_Frame_Del_p.E993del|KAT6A_uc003xon.4_In_Frame_Del_p.E993del	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	993	Poly-Glu.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGCTTTCCGGCTCCTCCTCCTCC	0.567													---	939	---	---	16	---					
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr8:48746799delT	uc003xqi.3	-	59	8164	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_uc003xqj.3_Frame_Shift_Del_p.R2703fs	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	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					---	1891	---	---	8	---					
TP53INP1	94241	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr8:95952409_95952411delTCT	uc003yhg.3	-	2	534_536	c.150_152delAGA	c.(148-153)gaagag>gag	p.50_51EE>E	TP53INP1_uc003yhh.3_In_Frame_Del_p.50_51EE>E	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	Homo sapiens tumor protein p53 inducible nuclear protein 1 (TP53INP1), transcript variant 1, mRNA.	50	Glu-rich.				apoptosis	PML body		p.E50E(2)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GATGTCCTCCTCTTCTTCTTCTT	0.458													---	263	---	---	8	---					
PABPC1	26986	broad.mit.edu	37	8	101724994	101724995	+	Frame_Shift_Ins	INS	-	A	A	rs140822921	by1000genomes	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr8:101724994_101724995insA	uc003yjs.1	-	5	1265_1266	c.761_762insT	c.(760-762)aagfs	p.K254fs	PABPC1_uc011lhc.1_Frame_Shift_Ins_p.K222fs|PABPC1_uc011lhd.1_Frame_Shift_Ins_p.K209fs|PABPC1_uc003yjt.1_Frame_Shift_Ins_p.K251fs|PABPC1_uc003yju.2_Non-coding_Transcript	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	254	CSDE1-binding.|RRM 3.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CATTGAGCTCCTTTCCGTTCAT	0.371													---	307	---	---	9	---					
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	G	G			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr8:110455173_110455174insG	uc003yne.3	+	36	4498	c.4394_splice	c.e36-1	p.G1465_splice		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1465	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)			---	442	---	---	11	---					
LOC642236	642236	broad.mit.edu	37	9	68438558	68438559	+	Splice_Site	INS	-	T	T			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr9:68438558_68438559insT	uc022bht.1	-	4		c.541_splice	c.e4+1							Homo sapiens FSHD region gene 1 pseudogene (LOC642236), non-coding RNA.																		AGACACAAACCTTCTTTGTGTG	0.421													---	455	---	---	8	---					
NR4A3	8013	broad.mit.edu	37	9	102590616	102590618	+	In_Frame_Del	DEL	CAC	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr9:102590616_102590618delCAC	uc022bky.1	+	3	1093_1095	c.325_327delCAC	c.(325-327)cacdel	p.H119del	NR4A3_uc004bae.3_In_Frame_Del_p.H108del|NR4A3_uc004baf.1_In_Frame_Del_p.H108del	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	108					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma								---	241	---	---	7	---					
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899370	112899372	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr9:112899370_112899372delCAG	uc004bei.2	+	8	2434_2436	c.2242_2244delCAG	c.(2242-2244)cagdel	p.Q753del	PALM2-AKAP2_uc004bej.4_In_Frame_Del_p.Q521del|PALM2-AKAP2_uc004bek.4_In_Frame_Del_p.Q521del|PALM2-AKAP2_uc004bel.1_In_Frame_Del_p.Q331del|PALM2-AKAP2_uc011lwi.2_In_Frame_Del_p.Q379del|PALM2-AKAP2_uc004bem.3_In_Frame_Del_p.Q379del|PALM2-AKAP2_uc010mtw.1_In_Frame_Del_p.Q339del|PALM2-AKAP2_uc011lwj.2_In_Frame_Del_p.Q290del|PALM2-AKAP2_uc004ben.3_In_Frame_Del_p.Q290del	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	290							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						gaagcagttacagcagcagcagc	0.552													---	188	---	---	7	---					
CNTRL	11064	broad.mit.edu	37	9	123875984	123875985	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr9:123875984_123875985insA	uc004bkx.1	+	7	1358_1359	c.1327_1328insA	c.(1327-1329)gaafs	p.E443fs	CNTRL_uc004bkw.2_Frame_Shift_Ins_p.E443fs|CNTRL_uc004bky.1_Frame_Shift_Ins_p.E47fs	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	443					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GGAAGACAAAGAAAAAAAAATA	0.322													---	187	---	---	7	---					
GOLGA2	2801	broad.mit.edu	37	9	131022880	131022881	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr9:131022880_131022881insA	uc011maw.2	-	16	1553_1554	c.1540_1541insT	c.(1540-1542)tggfs	p.W514fs	GOLGA2_uc010mxw.3_Intron|GOLGA2_uc004buh.3_5'UTR|JA429730_uc022bod.1_5'Flank|Metazoa_SRP_uc022bof.1_5'Flank|DQ594309_uc004bun.2_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	514						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CTGCTCCCCCCAGAGCTCGGCC	0.653													---	1013	---	---	96	---					
TSC1	7248	broad.mit.edu	37	9	135771988	135771990	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr9:135771988_135771990delGCT	uc004cca.2	-	22	3361_3363	c.3127_3129delAGC	c.(3127-3129)agcdel	p.S1043del	TSC1_uc004ccb.3_In_Frame_Del_p.S1042del|TSC1_uc011mcq.1_In_Frame_Del_p.S992del|TSC1_uc011mcr.2_In_Frame_Del_p.235_236AA>A	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	1043	Poly-Ser.				activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.S1043N(2)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TAGAAAGCTCgctgctgctgctg	0.640			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				---	292	---	---	7	---					
SYT15	83849	broad.mit.edu	37	10	46969401	46969403	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr10:46969401_46969403delCAG	uc001jea.3	-	1	211_213	c.58_60delCTG	c.(58-60)ctgdel	p.L21del	SYT15_uc001jdz.2_In_Frame_Del_p.L21del|SYT15_uc001jeb.3_Intron|SYT15_uc010qfp.1_5'Flank	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	21						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631													---	231	---	---	8	---					
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	-	-	rs12246234		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr10:55587198_55587200delGGC	uc010qhy.1	-	32	4730_4732	c.4335_4337delGCC	c.(4333-4338)ccgcct>cct	p.1445_1446PP>P	PCDH15_uc010qhq.2_In_Frame_Del_p.1445_1446PP>P|PCDH15_uc010qhr.2_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc021pqv.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc021pqw.1_In_Frame_Del_p.1452_1453PP>P|PCDH15_uc010qht.2_In_Frame_Del_p.1447_1448PP>P|PCDH15_uc021pqx.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc021pqz.1_In_Frame_Del_p.1415_1416PP>P|PCDH15_uc010qhv.1_In_Frame_Del_p.1437_1438PP>P|PCDH15_uc010qhw.1_In_Frame_Del_p.1400_1401PP>P|PCDH15_uc010qhx.1_In_Frame_Del_p.1369_1370PP>P|PCDH15_uc010qhz.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc010qia.1_In_Frame_Del_p.1418_1419PP>P|PCDH15_uc001jju.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc010qib.1_In_Frame_Del_p.1415_1416PP>P	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1440					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	p.A1445A(1)		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)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)			---	474	---	---	7	---					
RUFY2	55680	broad.mit.edu	37	10	70156583	70156583	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr10:70156583delT	uc001job.3	-	3	784	c.457delA	c.(457-459)atgfs	p.M153fs	RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joc.3_Intron|RUFY2_uc010qiw.2_Frame_Shift_Del_p.M60fs|RUFY2_uc001jod.1_Frame_Shift_Del_p.M118fs|RUFY2_uc009xpv.1_Frame_Shift_Del_p.M1fs|RUFY2_uc001joe.1_Frame_Shift_Del_p.M118fs	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	167	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TAATCGGCCATTTTTTTTTGC	0.398													---	329	---	---	13	---					
DNA2	1763	broad.mit.edu	37	10	70182521	70182521	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr10:70182521delA	uc021pru.1	-	14	2593	c.2593delT	c.(2593-2595)tcafs	p.S865fs	DNA2_uc021prt.1_Frame_Shift_Del_p.S865fs|DNA2_uc021prv.1_Frame_Shift_Del_p.S36fs|DNA2_uc001jog.2_Intron|DNA2_uc001joh.2_Non-coding_Transcript	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	Homo sapiens DNA replication helicase 2 homolog (yeast) (DNA2), mRNA.	779					DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	p.S865fs*6(2)|p.S779fs*6(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AATCTCCGTGAAAAAAAAAGG	0.403													---	169	---	---	7	---					
LZTS2	84445	broad.mit.edu	37	10	102763415	102763417	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr10:102763415_102763417delCCT	uc001ksj.3	+	2	730_732	c.560_562delCCT	c.(559-564)gcctcc>gcc	p.S197del	LZTS2_uc010qpw.2_In_Frame_Del_p.S197del|LZTS2_uc001ksk.3_In_Frame_Del_p.S197del|LZTS2_uc001ksl.3_In_Frame_Del_p.S197del|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	197	Required for centrosomal localization (By similarity).|Ser-rich.				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGGGGCCCTGcctcctcctcctc	0.650													---	1252	---	---	11	---					
NT5C2	22978	broad.mit.edu	37	10	104849436	104849438	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr10:104849436_104849438delTCC	uc001kwo.3	-	18	1870_1872	c.1677_1679delGGA	c.(1675-1680)gaggaa>gaa	p.559_560EE>E	NT5C2_uc010qqp.2_In_Frame_Del_p.530_531EE>E|NT5C2_uc001kwq.3_In_Frame_Del_p.559_560EE>E|NT5C2_uc001kwp.3_In_Frame_Del_p.406_407EE>E	NM_012229	NP_036361	P49902	5NTC_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic II (NT5C2), transcript variant 1, mRNA.	559	Asp/Glu-rich (acidic).				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	tccttattcttcctcctcctcct	0.502													---	186	---	---	7	---					
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr10:125528165_125528167delCAG	uc001lhk.1	-	8	1499_1501	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	392	Poly-Leu.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626													---	972	---	---	8	---					
NAV2	89797	broad.mit.edu	37	11	19901475	19901477	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr11:19901475_19901477delAGC	uc010rdm.2	+	4	933_935	c.572_574delAGC	c.(571-576)aagcag>aag	p.Q196del	NAV2_uc001mpp.3_In_Frame_Del_p.Q132del|NAV2_uc001mpr.4_In_Frame_Del_p.Q196del|NAV2_uc021qew.1_In_Frame_Del_p.Q196del	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	196	Gln-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCCGATACAagcagcagcagca	0.611													---	462	---	---	12	---					
RSF1	51773	broad.mit.edu	37	11	77412696	77412696	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr11:77412696delT	uc001oyn.3	-	5	1698	c.1578delA	c.(1576-1578)aaafs	p.K526fs	RSF1_uc001oym.3_Frame_Shift_Del_p.K274fs	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	526					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTATTTGTGCTTTTTGACTAT	0.393													---	838	---	---	47	---					
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	Splice_Site	INS	-	T	T	rs35342965	by1000genomes	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr11:102738793_102738794insT	uc001phk.3	-	5	727	c.630_splice	c.e5+1	p.T210_splice		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	210					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGAGGAACAAGTGGTGCCTAAG	0.416													---	48	---	---	12	---					
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	T	T	rs79561639	byFrequency	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr11:123777441_123777442insT	uc010saa.2	+	0	303_304	c.303_304insT	c.(301-306)ctgtttfs	p.L101fs		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													---	1287	---	---	11	---					
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr12:46320707_46320708delTC	uc001rox.3	-	10	3063_3064	c.2776_2777delGA	c.(2776-2778)gaafs	p.E926fs	SCAF11_uc001row.3_Frame_Shift_Del_p.E611fs|SCAF11_uc001roy.1_Frame_Shift_Del_p.E1000fs	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	926	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446													---	722	---	---	10	---					
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr12:57674205_57674207delTGC	uc009zpm.1	-	11	1271_1273	c.1236_1238delGCA	c.(1234-1239)cagcaa>caa	p.412_413QQ>Q	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_uc001snr.2_In_Frame_Del_p.139_140QQ>Q|R3HDM2_uc001sns.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_uc001snt.2_In_Frame_Del_p.426_427QQ>Q	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	412	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576													---	505	---	---	7	---					
MBD6	114785	broad.mit.edu	37	12	57919302	57919302	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr12:57919302delT	uc001soj.1	+	5	775	c.551delT	c.(550-552)cttfs	p.L184fs	MBD6_uc001sok.1_Frame_Shift_Del_p.L51fs|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	184	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCTGGGGGGCTTTTCCCCCCA	0.637													---	879	---	---	7	---					
MBD6	114785	broad.mit.edu	37	12	57921401	57921401	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr12:57921401delC	uc001soj.1	+	7	2418	c.2194delC	c.(2194-2196)cccfs	p.P732fs	MBD6_uc001sok.1_Frame_Shift_Del_p.P599fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	732	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTCAGGGAGACCCCCCCAACT	0.602													---	1088	---	---	9	---					
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr12:72057256_72057258delGCT	uc001swo.2	-	0	492_494	c.133_135delAGC	c.(133-135)agcdel	p.S45del	ZFC3H1_uc010sts.2_In_Frame_Del_p.S45del|ZFC3H1_uc001swp.3_In_Frame_Del_p.S45del|THAP2_uc001swq.3_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	45	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	799	---	---	10	---					
KIAA1704	55425	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	-	-	rs138421508		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr13:45580365_45580367delGAT	uc001uzq.3	+	2	353_355	c.250_252delGAT	c.(250-252)gatdel	p.D88del	KIAA1704_uc010tfo.1_Non-coding_Transcript|KIAA1704_uc001uzr.1_In_Frame_Del_p.D88del|KIAA1704_uc001uzs.3_5'UTR|KIAA1704_uc001uzt.3_5'UTR	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	Homo sapiens KIAA1704 (KIAA1704), mRNA.	88	Poly-Asp.									breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		Ggatgatgacgatgatgatgatg	0.335													---	948	---	---	16	---					
CKAP2	26586	broad.mit.edu	37	13	53049034	53049034	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr13:53049034delA	uc001vgv.2	+	8	2007	c.1810delA	c.(1810-1812)aaafs	p.K604fs	CKAP2_uc001vgu.2_Frame_Shift_Del_p.K603fs|CKAP2_uc010tha.1_Frame_Shift_Del_p.K555fs	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	Homo sapiens cytoskeleton associated protein 2 (CKAP2), transcript variant 2, mRNA.	604					apoptosis|cell cycle	centrosome|microtubule|spindle pole		p.K605fs*14(2)		breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		TTTCAGTGTGAAAAAAAAGGT	0.318													---	226	---	---	7	---					
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr14:73572607_73572608delAG	uc010ttu.2	+	11	1471_1472	c.1195_1196delAG	c.(1195-1197)agafs	p.R399fs	RBM25_uc001xno.3_Frame_Shift_Del_p.R399fs|RBM25_uc001xnp.3_Frame_Shift_Del_p.R194fs	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446													---	132	---	---	15	---					
BTBD7	55727	broad.mit.edu	37	14	93712186	93712188	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr14:93712186_93712188delTGC	uc001ybo.3	-	9	2892_2894	c.2566_2568delGCA	c.(2566-2568)gcadel	p.A856del	BTBD7_uc010aur.3_In_Frame_Del_p.A381del|BTBD7_uc010two.2_In_Frame_Del_p.A676del|BTBD7_uc001ybp.3_In_Frame_Del_p.A505del	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	856	Poly-Ala.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTTCTCAGAtgctgctgctgct	0.537													---	270	---	---	8	---					
SRP14	6727	broad.mit.edu	37	15	40328597	40328599	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr15:40328597_40328599delTGC	uc001zkq.2	-	4	418_420	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14_uc001zkr.2_3'UTR|LOC100131089_uc021sjc.1_5'Flank|LOC100131089_uc021sjd.1_5'Flank|LOC100131089_uc021sje.1_5'Flank|LOC100131089_uc001zks.2_5'Flank	NM_003134	NP_003125	P37108	SRP14_HUMAN	Homo sapiens signal recognition particle 14kDa (homologous Alu RNA binding protein) (SRP14), mRNA.	116	Ala/Thr-rich.				SRP-dependent cotranslational protein targeting to membrane|negative regulation of translational elongation|response to drug	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478													---	414	---	---	7	---					
PLA2G4F	255189	broad.mit.edu	37	15	42439919	42439920	+	Frame_Shift_Ins	INS	-	C	C	rs139732075	by1000genomes	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr15:42439919_42439920insC	uc001zoz.3	-	11	1192_1193	c.1100_1101insG	c.(1099-1101)cgafs	p.R367fs	PLA2G4F_uc010bcq.3_5'Flank|PLA2G4F_uc001zoy.3_5'UTR|PLA2G4F_uc001zpa.3_Frame_Shift_Ins_p.R118fs|PLA2G4F_uc010bcr.3_Frame_Shift_Ins_p.R118fs|PLA2G4F_uc010bcs.3_Frame_Shift_Ins_p.R154fs	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	367	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AAGACATGGCTCGGGTTCCACC	0.554													---	607	---	---	8	---					
HMGN2P46	283651	broad.mit.edu	37	15	45848231	45848231	+	RNA	DEL	T	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr15:45848231delT	uc001zvn.1	+	3		c.985delT			HMGN2P46_uc010beg.1_Non-coding_Transcript|HMGN2P46_uc010beh.1_Non-coding_Transcript|HMGN2P46_uc010bei.1_Non-coding_Transcript|HMGN2P46_uc010bej.1_Non-coding_Transcript|HMGN2P46_uc001zvm.1_Non-coding_Transcript					Homo sapiens high mobility group nucleosomal binding domain 2 pseudogene 46 (HMGN2P46), non-coding RNA.																		TTTGTTTAGCTTTTTTTTTTT	0.323													---	79	---	---	11	---					
MTFMT	123263	broad.mit.edu	37	15	65312612	65312613	+	Splice_Site	INS	-	A	A			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr15:65312612_65312613insA	uc002aof.4	-	5	672	c.646_splice	c.e5-1	p.L216_splice		NM_139242	NP_640335	Q96DP5	FMT_HUMAN	Homo sapiens mitochondrial methionyl-tRNA formyltransferase (MTFMT), nuclear gene encoding mitochondrial protein, mRNA.	216						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	TGAAATGAGCTACAAAAAAAAA	0.381													---	104	---	---	7	---					
CPLX3	594855	broad.mit.edu	37	15	75122558	75122560	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr15:75122558_75122560delGAG	uc002ayu.1	+	2	1568_1570	c.340_342delGAG	c.(340-342)gagdel	p.E118del		NM_001030005	NP_001025176	Q8WVH0	CPLX3_HUMAN	Homo sapiens complexin 3 (CPLX3), mRNA.	118						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						GGAGGACACAGAGGAGGAGGAGG	0.616													---	391	---	---	7	---					
C16orf62	57020	broad.mit.edu	37	16	19580800	19580802	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr16:19580800_19580802delTCC	uc002dgn.2	+	2	487_489	c.172_174delTCC	c.(172-174)tccdel	p.S64del	C16orf62_uc002dgo.2_In_Frame_Del_p.S153del|C16orf62_uc010vas.2_Non-coding_Transcript|C16orf62_uc002dgm.2_In_Frame_Del_p.S153del	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	64	Ser-rich.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTCTTCCACGTCCTCCTCCTCCT	0.562													---	381	---	---	8	---					
ITGAL	3683	broad.mit.edu	37	16	30531249	30531251	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr16:30531249_30531251delGCT	uc002dyi.4	+	29	3476_3478	c.3300_3302delGCT	c.(3298-3303)gggctg>ggg	p.L1106del	ITGAL_uc002dyj.4_In_Frame_Del_p.L1022del|ITGAL_uc010vev.2_In_Frame_Del_p.L340del	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	1106					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCATCGGGGGGCTGCTGCTGCTG	0.601													---	993	---	---	8	---					
SRCAP	10847	broad.mit.edu	37	16	30736370	30736371	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr16:30736370_30736371insC	uc002dze.1	+	24	6010_6011	c.5625_5626insC	c.(5623-5628)cagcccfs	p.Q1875fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Ins_p.Q1670fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1875	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569													---	790	---	---	13	---					
CDH3	1001	broad.mit.edu	37	16	68718504	68718504	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr16:68718504delA	uc002ewf.2	+	9	2333	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_uc010vli.1_Frame_Shift_Del_p.K346fs	NM_001793	NP_001784	P22223	CADH3_HUMAN	Homo sapiens cadherin 3, type 1, P-cadherin (placental) (CDH3), mRNA.	401	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522													---	1717	---	---	8	---					
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	-	-	rs4788682	by1000genomes	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr16:72991713_72991715delCCA	uc002fck.3	-	1	3003_3005	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	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(2)		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													---	383	---	---	8	---					
KIAA0182	23199	broad.mit.edu	37	16	85682289	85682290	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr16:85682289_85682290insC	uc002fix.3	+	2	432_433	c.358_359insC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688													---	532	---	---	14	---					
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:7495872_7495874delCGG	uc002gia.2	-	14	2138_2140	c.1773_1775delCCG	c.(1771-1776)cgccgt>cgt	p.591_592RR>R	MPDU1_uc010vuc.1_3'UTR|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytosolic large ribosomal subunit	RNA binding|protein binding	p.R590S(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547													---	1349	---	---	7	---					
CNTROB	116840	broad.mit.edu	37	17	7843518	7843519	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:7843518_7843519delGA	uc002gjp.3	+	9	2219_2220	c.1269_1270delGA	c.(1267-1272)cggagafs	p.R423fs	CNTROB_uc002gjq.3_Frame_Shift_Del_p.R423fs|CNTROB_uc002gjr.3_Frame_Shift_Del_p.R325fs|CNTROB_uc010vum.1_Frame_Shift_Del_p.R135fs	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	423	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	p.A422G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				ATACAGCTCGGAGAGAGAGAGA	0.579													---	627	---	---	8	---					
MED9	55090	broad.mit.edu	37	17	17394705	17394707	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:17394705_17394707delCAG	uc002grh.1	+	1	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019	NP_060489	Q9NWA0	MED9_HUMAN	Homo sapiens mediator complex subunit 9 (MED9), mRNA.	117					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581													---	976	---	---	8	---					
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:27959374_27959375insG	uc002heo.1	-	14	2756_2757	c.2756_2757insC	c.(2755-2757)ccafs	p.P919fs	SSH2_uc010wbh.1_Frame_Shift_Ins_p.P946fs	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.480													---	1525	---	---	7	---					
KRTAP9-1	728318	broad.mit.edu	37	17	39346425	39346427	+	In_Frame_Del	DEL	GTG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:39346425_39346427delGTG	uc021txf.1	+	0	287_289	c.287_289delGTG	c.(286-291)tgtggc>tgc	p.G97del	KRTAP4-1_uc010cxm.1_Intron	NM_001190460	NP_001177389	A8MXZ3	KRA91_HUMAN	Homo sapiens keratin associated protein 9-1 (KRTAP9-1), mRNA.	97	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament				breast(1)|lung(3)	4						TCCAGCTGCTGTGGCCAAACCAG	0.606													---	147	---	---	14	---					
STAT5B	6777	broad.mit.edu	37	17	40370236	40370236	+	Frame_Shift_Del	DEL	G	-	-	rs144993426		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:40370236delG	uc002hzh.3	-	8	1271	c.1102delC	c.(1102-1104)cagfs	p.Q368fs	STAT5B_uc002hzi.3_Frame_Shift_Del_p.Q368fs	NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	368					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GCCTTCACCTGGGGGGGGTTC	0.577													---	325	---	---	8	---					
TOB1	10140	broad.mit.edu	37	17	48940610	48940612	+	In_Frame_Del	DEL	GTG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:48940610_48940612delGTG	uc002isw.3	-	1	1210_1212	c.767_769delCAC	c.(766-771)ccacag>cag	p.P256del	TOB1_uc021uac.1_In_Frame_Del_p.P117del|TOB1_uc010wmz.2_In_Frame_Del_p.P256del|TOB1_uc021uad.1_In_Frame_Del_p.P256del	NM_005749	NP_005740	P50616	TOB1_HUMAN	Homo sapiens transducer of ERBB2, 1 (TOB1), transcript variant 1, mRNA.	256	Poly-Pro.				negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			tgttgctgctgtggtggtggtgg	0.517													---	275	---	---	9	---					
AKAP1	8165	broad.mit.edu	37	17	55183460	55183460	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:55183460delA	uc010wnl.2	+	2	917	c.635delA	c.(634-636)gaafs	p.E212fs	AKAP1_uc002iux.3_Frame_Shift_Del_p.E212fs|AKAP1_uc021uak.1_Frame_Shift_Del_p.E212fs|AKAP1_uc010dcm.3_Frame_Shift_Del_p.E212fs|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	212					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GTGTTGGGGGAAAAGGTGCTT	0.587													---	597	---	---	7	---					
NEDD4L	23327	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr18:55992284_55992286delTCC	uc002lgy.3	+	8	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_uc002lgz.3_In_Frame_Del_p.P194del|NEDD4L_uc002lgx.3_In_Frame_Del_p.P194del|NEDD4L_uc010xee.1_In_Frame_Del_p.P73del|NEDD4L_uc002lhc.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhd.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhb.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhe.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhf.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhg.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhh.2_In_Frame_Del_p.P73del|NEDD4L_uc010dpm.1_In_Frame_Del_p.P45del	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	194	WW 1.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498													---	856	---	---	11	---					
DNMT1	1786	broad.mit.edu	37	19	10262139	10262139	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr19:10262139delT	uc002mng.3	-	22	2332	c.2152delA	c.(2152-2154)atgfs	p.M718fs	DNMT1_uc010xlc.2_Frame_Shift_Del_p.M734fs|DNMT1_uc002mnh.3_Frame_Shift_Del_p.M613fs|DNMT1_uc010xld.2_Frame_Shift_Del_p.M718fs	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	718					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCCTGGTGCATTTTTTTGGGT	0.507													---	817	---	---	12	---					
ZNF44	51710	broad.mit.edu	37	19	12384448	12384448	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr19:12384448delA	uc010xmj.2	-	4	971	c.766delT	c.(766-768)tggfs	p.W256fs	ZNF44_uc002mtl.3_Intron|ZNF44_uc010xmi.2_Non-coding_Transcript|ZNF44_uc002mtn.4_Non-coding_Transcript|ZNF44_uc010dys.3_Frame_Shift_Del_p.W208fs	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	Homo sapiens zinc finger protein 44 (ZNF44), transcript variant 1, mRNA.	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		AAACTGGGCCAAAAAAAGGCT	0.398													---	511	---	---	7	---					
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr19:12430217delA	uc002mtp.3	-	3	860	c.622delT	c.(622-624)tggfs	p.W208fs	ZNF563_uc002mtq.2_Intron	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	Homo sapiens zinc finger protein 563 (ZNF563), mRNA.	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACTGGGCCAAAAAAAAGCT	0.393													---	700	---	---	9	---					
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr19:35773520_35773522delCTC	uc002nyw.3	+	0	111_113	c.40_42delCTC	c.(40-42)ctcdel	p.L18del		NM_021175	NP_066998	P81172	HEPC_HUMAN	Homo sapiens hepcidin antimicrobial peptide (HAMP), mRNA.	18					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.640													---	1009	---	---	11	---					
C19orf55	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr19:36255947_36255949delCTC	uc021usz.1	+	6	712_714	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del		NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.	218	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													---	1270	---	---	7	---					
MAMSTR	284358	broad.mit.edu	37	19	49218105	49218106	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr19:49218105_49218106insG	uc002pkg.2	-	5	547_548	c.485_486insC	c.(484-486)ccafs	p.P162fs	MAMSTR_uc002pkf.2_Frame_Shift_Ins_p.P59fs	NM_001130915	NP_872380	Q6ZN01	MASTR_HUMAN	Homo sapiens MEF2 activating motif and SAP domain containing transcriptional regulator (MAMSTR), transcript variant 1, mRNA.	162	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						CCAACTTGTGTGGGGGGGGCGA	0.569													---	634	---	---	11	---					
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr20:23345921_23345923delGAG	uc010gdb.3	+	2	1075_1077	c.901_903delGAG	c.(901-903)gagdel	p.E306del	GZF1_uc002wsy.3_In_Frame_Del_p.E306del|GZF1_uc010zsq.2_Intron|GZF1_uc010zsr.2_Intron|GZF1_uc002wsz.3_In_Frame_Del_p.E306del	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	306					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ggaggaggaagaggaggaggagg	0.532													---	415	---	---	11	---					
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr20:47989771_47989772insG	uc002xur.1	-	1	2491_2492	c.2325_2326insC	c.(2323-2328)cccaaafs	p.P775fs	KCNB1_uc002xus.1_Frame_Shift_Ins_p.P775fs	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	775					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGAGGCTTTTGGGGGGGCTGG	0.545													---	2096	---	---	8	---					
SALL4	57167	broad.mit.edu	37	20	50408346	50408348	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr20:50408346_50408348delGCT	uc002xwh.4	-	1	775_777	c.674_676delAGC	c.(673-678)cagcta>cta	p.Q225del	SALL4_uc010gii.3_In_Frame_Del_p.Q225del|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	225					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCTGCTGTAGCTGCTGCTGCTG	0.645													---	500	---	---	7	---					
DIDO1	11083	broad.mit.edu	37	20	61537401	61537402	+	Frame_Shift_Ins	INS	-	T	T	rs140153728		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr20:61537401_61537402insT	uc002ydr.2	-	5	1737_1738	c.1425_1426insA	c.(1423-1428)aaagagfs	p.K475fs	DIDO1_uc002yds.2_Frame_Shift_Ins_p.K475fs|DIDO1_uc002ydt.2_Frame_Shift_Ins_p.K475fs|DIDO1_uc002ydu.2_Frame_Shift_Ins_p.K475fs|DIDO1_uc002ydv.2_Frame_Shift_Ins_p.K475fs|DIDO1_uc002ydw.2_Frame_Shift_Ins_p.K475fs|DIDO1_uc002ydx.2_Frame_Shift_Ins_p.K475fs|DIDO1_uc011aao.1_Frame_Shift_Ins_p.K475fs	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	475					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACTGTGGTCTCTTTTTTTTCTG	0.490													---	730	---	---	11	---					
PLAC4	191585	broad.mit.edu	37	21	42551433	42551433	+	Frame_Shift_Del	DEL	G	-	-	rs5844069		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr21:42551433delG	uc002yyz.3	-	0	5734	c.123delC	c.(121-123)cccfs	p.P41fs	BACE2_uc002yyw.3_Intron|BACE2_uc002yyx.3_Intron|BACE2_uc002yyy.3_Intron	NM_182832	NP_878252	Q8WY50	PLAC4_HUMAN	Homo sapiens placenta-specific 4 (PLAC4), mRNA.	41				P -> H (in Ref. 1; AAG23170).									Prostate(19;2.29e-06)				GACGGTGTCTGGGGTGAGTGA	0.607													---	94	---	---	14	---					
PRDM15	63977	broad.mit.edu	37	21	43221415	43221417	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr21:43221415_43221417delCTG	uc002yzq.1	-	30	4618_4620	c.4507_4509delCAG	c.(4507-4509)cagdel	p.Q1503del	PRDM15_uc002yzo.3_In_Frame_Del_p.Q1174del|PRDM15_uc002yzp.3_In_Frame_Del_p.Q1194del|PRDM15_uc002yzr.1_In_Frame_Del_p.Q1194del	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	1503	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AGCTGTACATCTGCTGCTGCTGC	0.611													---	560	---	---	8	---					
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr21:46276194_46276196delGCA	uc002zgb.2	-	3	648_650	c.361_363delTGC	c.(361-363)tgcdel	p.C121del	PTTG1IP_uc011afk.2_Intron	NM_004339	NP_004330	P53801	PTTG_HUMAN	Homo sapiens pituitary tumor-transforming 1 interacting protein (PTTG1IP), mRNA.	121	Poly-Cys.				protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616													---	397	---	---	9	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	-	-	rs141985009	byFrequency	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr22:30742328_30742330delCTG	uc003ahl.3	-	2	496_498	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_uc021wnt.1_Intron	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	122	Poly-Gln.				nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606													---	714	---	---	9	---					
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr22:41650469_41650471delTCC	uc003azs.3	-	9	2571_2573	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	RANGAP1_uc003azt.3_In_Frame_Del_p.367_368EE>E|RANGAP1_uc003azu.3_In_Frame_Del_p.367_368EE>E|RANGAP1_uc011aoz.2_In_Frame_Del_p.312_313EE>E	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	367	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562													---	617	---	---	17	---					
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr22:43213780delT	uc003bdd.2	-	9	1116	c.896delA	c.(895-897)aatfs	p.N299fs	ARFGAP3_uc010gzf.2_Frame_Shift_Del_p.N255fs|ARFGAP3_uc011apu.1_Frame_Shift_Del_p.N227fs	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	299					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|cytosol	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363													---	800	---	---	8	---					
OFD1	8481	broad.mit.edu	37	X	13764946	13764946	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chrX:13764946delA	uc004cvp.4	+	7	1061	c.702delA	c.(700-702)gcafs	p.A234fs	OFD1_uc004cvr.4_5'UTR|OFD1_uc011mil.2_5'UTR|OFD1_uc004cvq.4_Frame_Shift_Del_p.A94fs|OFD1_uc010nen.3_Frame_Shift_Del_p.A233fs|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Frame_Shift_Del_p.A233fs|OFD1_uc004cvv.4_Frame_Shift_Del_p.A233fs|OFD1_uc010neo.1_Frame_Shift_Del_p.A20fs	NM_003611	NP_003602	O75665	OFD1_HUMAN	Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.	234					G2/M transition of mitotic cell cycle|cilium movement involved in determination of left/right asymmetry	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AAATGGAAGCAAAAAAAAAGT	0.299													---	296	---	---	8	---					
TXLNG	55787	broad.mit.edu	37	X	16850849	16850850	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chrX:16850849_16850850delAG	uc004cxq.2	+	5	1024_1025	c.968_969delAG	c.(967-969)cagfs	p.Q323fs	TXLNG_uc010ney.2_Frame_Shift_Del_p.Q191fs|TXLNG_uc004cxr.1_5'Flank	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	Homo sapiens taxilin gamma (TXLNG), transcript variant 1, mRNA.	323					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386													---	477	---	---	8	---					
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chrX:21627678_21627680delGAG	uc004czx.2	+	19	3115_3117	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_uc004czw.3_In_Frame_Del_p.E886del|CNKSR2_uc011mjn.2_In_Frame_Del_p.E837del|CNKSR2_uc011mjo.2_In_Frame_Del_p.E856del|CNKSR2_uc004czy.3_In_Frame_Del_p.E478del	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	886	Poly-Glu.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517													---	288	---	---	8	---					
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chrX:54011405_54011407delCTC	uc004dsu.3	-	17	2737_2739	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_uc004dsv.3_In_Frame_Del_p.E661del|PHF8_uc004dst.3_In_Frame_Del_p.E795del|PHF8_uc004dsw.3_In_Frame_Del_p.E694del|PHF8_uc004dsx.3_In_Frame_Del_p.E559del|PHF8_uc004dsy.3_In_Frame_Del_p.E778del	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	831					G1/S transition of mitotic cell cycle|brain development|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													---	886	---	---	12	---					
GNL3L	54552	broad.mit.edu	37	X	54578339	54578341	+	In_Frame_Del	DEL	GAA	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chrX:54578339_54578341delGAA	uc022bxi.1	+	11	1369_1371	c.1113_1115delGAA	c.(1111-1116)gggaag>ggg	p.K375del	GNL3L_uc004dti.3_Non-coding_Transcript|GNL3L_uc004dth.2_In_Frame_Del_p.K375del	NM_001184819	NP_061940	Q9NVN8	GNL3L_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar)-like (GNL3L), transcript variant 1, mRNA.	375					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCGTTTGGGGAAGAAGAAGAAG	0.557													---	471	---	---	7	---					
CUL4B	8450	broad.mit.edu	37	X	119694117	119694119	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chrX:119694117_119694119delGAG	uc004esw.3	-	2	866_868	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_uc004esv.3_In_Frame_Del_p.125_126SS>S	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	143	Ser-rich.				DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488													---	396	---	---	10	---					
MAMLD1	10046	broad.mit.edu	37	X	149639325	149639327	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chrX:149639325_149639327delCAG	uc011mxu.2	+	2	1715_1717	c.1405_1407delCAG	c.(1405-1407)cagdel	p.Q477del	MAMLD1_uc011mxt.1_In_Frame_Del_p.Q464del|MAMLD1_uc004fee.2_In_Frame_Del_p.Q502del|MAMLD1_uc011mxv.2_In_Frame_Del_p.Q477del|MAMLD1_uc011mxw.2_In_Frame_Del_p.Q429del	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	502					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532													---	440	---	---	14	---					
ZNF185	7739	broad.mit.edu	37	X	152087570	152087572	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chrX:152087570_152087572delGAG	uc011myg.2	+	6	523_525	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_uc011myi.2_In_Frame_Del_p.E165del|ZNF185_uc011myj.2_In_Frame_Del_p.E165del|ZNF185_uc011myh.2_In_Frame_Del_p.E165del|ZNF185_uc011myk.2_In_Frame_Del_p.E165del|ZNF185_uc010ntv.2_In_Frame_Del_p.E165del|ZNF185_uc004fgw.4_In_Frame_Del_p.E30del|ZNF185_uc004fgu.3_5'UTR|ZNF185_uc004fgv.3_5'Flank	NM_001178106	NP_001171577	O15231	ZN185_HUMAN	Homo sapiens zinc finger protein 185 (LIM domain) (ZNF185), transcript variant 1, mRNA.	165	Poly-Glu.					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596													---	150	---	---	7	---					
