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
MLST8	64223	broad.mit.edu	37	16	2256104	2256104	+	Silent	SNP	C	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:2256104C>A	uc002coy.3	+	1	409	c.18C>A	c.(16-18)ggC>ggA	p.G6G	MLST8_uc002cpc.3_Silent_p.G6G|MLST8_uc010uvx.2_5'UTR|MLST8_uc002cpd.3_5'UTR|MLST8_uc002cpb.3_Silent_p.G6G|MLST8_uc002coz.3_Silent_p.G6G|MLST8_uc002cpe.3_Silent_p.G6G|MLST8_uc010uvy.2_Silent_p.G6G|MLST8_uc002cpf.3_Silent_p.G6G|MLST8_uc002cph.3_Non-coding_Transcript	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	Homo sapiens MTOR associated protein, LST8 homolog (S. cerevisiae) (MLST8), transcript variant 1, mRNA.	6					T cell costimulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						CCTCCCCAGGCACGGTGGGCA	0.632000														747			32		9.78306e-22	1.24219e-21	0.009535	1	0
LTBP4	8425	broad.mit.edu	37	19	41119074	41119074	+	Silent	SNP	G	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:41119074G>T	uc002ooh.1	+	18	2604	c.2604G>T	c.(2602-2604)gcG>gcT	p.A868A	LTBP4_uc002oog.1_Silent_p.A831A|LTBP4_uc002ooi.1_Silent_p.A801A|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc010xvo.1_Silent_p.A156A|LTBP4_uc002ook.1_Silent_p.A88A|LTBP4_uc002ool.1_5'Flank|LTBP4_uc002oom.1_5'Flank|LTBP4_uc010xvp.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	868	Cys-rich.|EGF-like 9; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	p.A868A(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTACCGGGCGCCGTCGGGTC	0.692000														35			9		1.76689e-08	2.07933e-08	0.006214	1	0
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:146059041A>G	uc003ika.4	-	20	2829	c.2691T>C	c.(2689-2691)caT>caC	p.H897H		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	961							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478000														880			9		0	0	0.001168	0	0
SHANK2	22941	broad.mit.edu	37	11	70332827	70332827	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:70332827C>T	uc001oqc.3	-	20	3485	c.3373G>A	c.(3373-3375)Gcg>Acg	p.A1125T	SHANK2_uc010rqn.2_Missense_Mutation_p.A601T|SHANK2_uc001opz.3_Missense_Mutation_p.A596T|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	812					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCGCTGCTCGCGGAGGGCACT	0.706000														457			9		0	0	0.004482	0	0
E2F3	1871	broad.mit.edu	37	6	20490464	20490464	+	Missense_Mutation	SNP	G	T	T	rs151305307	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:20490464G>T	uc003nda.2	+	6	1528	c.1201G>T	c.(1201-1203)Gcc>Tcc	p.A401S	E2F3_uc021ymj.1_Missense_Mutation_p.A270S	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	401	Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			TTCTCCTCTGGCCTCCCCAGC	0.463000														553			7		2.0095e-06	2.29487e-06	0.001984	1	0
PI4KAP2	375133	broad.mit.edu	37	22	21829555	21829555	+	Missense_Mutation	SNP	T	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr22:21829555T>G	uc002zuv.4	-	13	3847	c.1588A>C	c.(1588-1590)Atc>Ctc	p.I530L	PI4KAP2_uc002zuw.3_Intron|PI4KAP2_uc011aid.2_Intron					Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2 (PI4KAP2), non-coding RNA.									p.I530L(8)		endometrium(3)|urinary_tract(1)	4						TCCAACATGATAGTGACCAGG	0.607000														84			6		0	0	0.001984	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240900	39240900	+	Missense_Mutation	SNP	T	G	G	rs61746948		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:39240900T>G	uc010wfn.2	+	0	442	c.442T>G	c.(442-444)Ttg>Gtg	p.L148V		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						TCCCCGCCCCTTGTGCTGTGC	0.627000														85			4		0	0	0.001368	0	0
PRDM2	7799	broad.mit.edu	37	1	14106589	14106589	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:14106589G>A	uc001avi.3	+	7	3155	c.2299G>A	c.(2299-2301)Ggg>Agg	p.G767R	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.G767R|PRDM2_uc021ogk.1_Missense_Mutation_p.G530R|PRDM2_uc001avk.3_Missense_Mutation_p.G566R|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	767						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GACCGATGCCGGGCTGACTTC	0.522000														626			7		0	0	0.001984	0	0
CCDC15	80071	broad.mit.edu	37	11	124857495	124857495	+	Missense_Mutation	SNP	A	C	C	rs113451248		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:124857495A>C	uc001qbm.4	+	7	1632	c.1373A>C	c.(1372-1374)cAc>cCc	p.H458P		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.	458						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCACAAAGACCAA	0.418000														711			9		0	0	0.001368	0	0
AP3D1	8943	broad.mit.edu	37	19	2110781	2110781	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:2110781G>A	uc002lva.3	-	26	3323	c.3100C>T	c.(3100-3102)Ctc>Ttc	p.L1034F	AP3D1_uc010dsv.3_Missense_Mutation_p.L62F|AP3D1_uc002luy.3_Missense_Mutation_p.L931F|AP3D1_uc002luz.3_Missense_Mutation_p.L972F	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	972					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGCATTGAGTGAGTCCAGC	0.667000														262			12		0	0	0.000978	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627003	140627003	+	Silent	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:140627003G>A	uc003lje.3	+	0	1857	c.1857G>A	c.(1855-1857)gcG>gcA	p.A619A		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	619	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A619E(1)|p.A619V(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGTGTGGGCGCACAATGGCG	0.687000														388			13		0	0	0.002299	0	0
RPH3A	22895	broad.mit.edu	37	12	113303278	113303278	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:113303278G>A	uc010syl.2	+	5	652	c.290G>A	c.(289-291)cGc>cAc	p.R97H	RPH3A_uc001ttz.3_Missense_Mutation_p.R97H|RPH3A_uc001tty.3_Missense_Mutation_p.R93H|RPH3A_uc009zwe.1_Missense_Mutation_p.R93H|RPH3A_uc010sym.2_Missense_Mutation_p.R48H|RPH3A_uc001tua.3_5'Flank	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	97	RabBD.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GGGGTGAACCGCTGCATACTG	0.522000														577			31		0	0	0.002445	0	0
ZNF134	7693	broad.mit.edu	37	19	58131705	58131705	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:58131705A>G	uc002qpn.2	+	2	317	c.218A>G	c.(217-219)cAt>cGt	p.H73R	ZNF134_uc002qpo.2_5'UTR|ZNF211_uc010yhb.1_5'Flank	NM_003435	NP_003426	P52741	ZN134_HUMAN	Homo sapiens zinc finger protein 134 (ZNF134), mRNA.	73						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GGTACACACCATGGACTGAAA	0.488000														741			11		0	0	0.001368	0	0
MAP4	4134	broad.mit.edu	37	3	47958147	47958147	+	Silent	SNP	C	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:47958147C>T	uc003csb.2	-	6	1696	c.1170G>A	c.(1168-1170)ttG>ttA	p.L390L	MAP4_uc003csc.3_Silent_p.L390L|MAP4_uc011bbf.1_Silent_p.L367L|MAP4_uc003csf.3_Silent_p.L407L	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	390	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.L390L(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGGAAGGAGCCAAGTCCATTT	0.448000														898			9		0	0	0.008291	0	0
ZNF267	10308	broad.mit.edu	37	16	31927534	31927534	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:31927534C>G	uc002ecs.4	+	3	2173	c.1964C>G	c.(1963-1965)aCt>aGt	p.T655S		NM_003414	NP_003405	Q14586	ZN267_HUMAN	Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA.	655					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AGAAGTCATACTGGAGAGAGA	0.453000														549			7		0	0	0.003080	0	0
CD248	57124	broad.mit.edu	37	11	66084240	66084240	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:66084240G>T	uc001ohm.1	-	0	276	c.259C>A	c.(259-261)Ctg>Atg	p.L87M		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	87	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	p.L87M(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TGCCGCTGCAGCCCGATCCAC	0.731000														126			19		3.83957e-06	4.30835e-06	0.002780	1	0
TRPA1	8989	broad.mit.edu	37	8	72969219	72969219	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:72969219C>T	uc003xza.3	-	9	1302	c.1127G>A	c.(1126-1128)cGt>cAt	p.R376H		NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	376						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAGAAAATTACGTCCAAAATT	0.299000														247			7		0	0	0.006214	0	0
RPSA	3921	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:24010294C>G	uc002nrn.3	+	3	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	111	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	p.Q111E(12)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CTTCACTAACCAGATCCAGGC	0.567000														387			8		0	0	0.008291	0	0
ZNF681	148213	broad.mit.edu	37	19	23926839	23926839	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:23926839A>G	uc002nrk.4	-	3	1655	c.1513T>C	c.(1513-1515)Tcc>Ccc	p.S505P	ZNF681_uc002nrl.4_Missense_Mutation_p.S436P|ZNF681_uc002nrj.4_Missense_Mutation_p.S436P	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CATTTGTAGGATTTCTCTCCA	0.373000														580			10		0	0	0.002450	0	0
TXNIP	10628	broad.mit.edu	37	1	145440118	145440118	+	Silent	SNP	T	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:145440118T>A	uc001enn.4	+	3	893	c.552T>A	c.(550-552)atT>atA	p.I184I	TXNIP_uc010oys.2_Silent_p.I129I	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	184					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGCTCGAATTGACAGAAAAG	0.448000														764			33		0	0	0.003755	0	0
GPC4	2239	broad.mit.edu	37	X	132458560	132458560	+	Silent	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:132458560G>A	uc004exc.1	-	2	536	c.324C>T	c.(322-324)ttC>ttT	p.F108F	GPC4_uc011mvg.1_Silent_p.F38F	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	108					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTTCTTTGAAGAATTCTGAAA	0.294000														648			30		0	0	0.008871	0	0
ZNF195	7748	broad.mit.edu	37	11	3380510	3380510	+	Silent	SNP	T	C	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:3380510T>C	uc001lxt.3	-	5	1910	c.1728A>G	c.(1726-1728)aaA>aaG	p.K576K	ZNF195_uc010qxr.2_Silent_p.K557K|ZNF195_uc009ydz.3_Silent_p.K531K|ZNF195_uc001lxu.3_Silent_p.K508K|ZNF195_uc001lxv.3_Silent_p.K553K|ZNF195_uc021qck.1_Silent_p.K508K|ZNF195_uc001lxs.3_Silent_p.K504K	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGTTTCTCTCCAG	0.393000														702			9		0	0	0.001855	0	0
CCDC159	126075	broad.mit.edu	37	19	11464523	11464523	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:11464523G>T	uc010xlw.1	+	9	1073	c.994G>T	c.(994-996)Gcc>Tcc	p.A332S	CCDC159_uc010xlt.2_Missense_Mutation_p.A249S|LPPR2_uc002mre.2_5'Flank|LPPR2_uc002mrf.2_5'Flank	NM_001080503	NP_001073972	P0C7I6	CC159_HUMAN	Homo sapiens coiled-coil domain containing 159 (CCDC159), mRNA.	364										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						GTGCTCGGGGGCCTGTCCCAA	0.587000														59			6		0.00307968	0.00324797	0.003080	1	0
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:90126823T>G	uc010cje.3	-	8	1179	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_uc002fqo.3_Intron|PRDM7_uc010cjf.3_Intron|PRDM7_uc010cjg.1_Missense_Mutation_p.M181L	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	Homo sapiens PR domain containing 7 (PRDM7), transcript variant 1, mRNA.	387						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522000														644			8		0	0	0.008291	0	0
FAM13A	10144	broad.mit.edu	37	4	89950680	89950680	+	Missense_Mutation	SNP	G	A	A	rs114435452	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:89950680G>A	uc003hse.1	-	1	356	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	FAM13A_uc003hsf.1_5'UTR|FAM13A_uc003hsh.1_5'UTR	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	50	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AGCCCCTGCCGTTCAAGTTCT	0.418000														870			22		0	0	0.010504	0	0
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:114355998C>G	uc002tkh.3	+	4	674	c.616C>G	c.(616-618)Cac>Gac	p.H206D	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCAAGGTGGGCACTTGATGTC	0.612000														86			7		0	0	0.002450	0	0
IFT122	55764	broad.mit.edu	37	3	129214429	129214429	+	Silent	SNP	C	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:129214429C>T	uc003eml.3	+	18	2546	c.2340C>T	c.(2338-2340)ctC>ctT	p.L780L	IFT122_uc003emm.3_Silent_p.L729L|IFT122_uc003emn.3_Silent_p.L670L|IFT122_uc003emo.3_Silent_p.L618L|IFT122_uc003emp.3_Silent_p.L579L|IFT122_uc010htc.3_Silent_p.L721L|IFT122_uc011bky.2_Silent_p.L520L|IFT122_uc011bla.2_Silent_p.L502L|IFT122_uc003emr.3_Silent_p.L481L|IFT122_uc010hte.3_Intron|IFT122_uc003ems.3_Silent_p.L110L|IFT122_uc011bkx.1_Silent_p.L569L|IFT122_uc010htd.1_Silent_p.L208L	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	729					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ACACCGACCTCTGCATGTTTG	0.537000														474			16		0	0	0.007413	0	0
C7orf10	79783	broad.mit.edu	37	7	40899974	40899974	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:40899974G>A	uc022acd.1	+	14	1336	c.1312G>A	c.(1312-1314)Ggg>Agg	p.G438R	C7orf10_uc003thn.2_Missense_Mutation_p.G412R|C7orf10_uc003tho.2_Missense_Mutation_p.G364R|C7orf10_uc003thp.2_Non-coding_Transcript	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	412							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CCCGCTGCTCGGGCAGCACAC	0.567000														814			18		0	0	0.003330	0	0
TULP4	56995	broad.mit.edu	37	6	158924700	158924700	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:158924700G>C	uc003qrf.3	+	12	5362	c.4005G>C	c.(4003-4005)aaG>aaC	p.K1335N	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	1335					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AATTTGGAAAGAAGAACCGGA	0.537000														390			13		0	0	0.001855	0	0
ZNF844	284391	broad.mit.edu	37	19	12187475	12187475	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:12187475C>G	uc002mtb.2	+	3	1683	c.1540C>G	c.(1540-1542)Cat>Gat	p.H514D	ZNF844_uc010dym.1_Missense_Mutation_p.H357D	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H514D(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCTTCACATCTGCCTCA	0.408000														395			6		0	0	0.006214	0	0
ZNF479	90827	broad.mit.edu	37	7	57187809	57187809	+	Missense_Mutation	SNP	T	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:57187809T>G	uc010kzo.3	-	4	1584	c.1313A>C	c.(1312-1314)aAa>aCa	p.K438T		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTTCACATTTGTAGGGTCT	0.453000														393			9		0	0	0.006214	0	0
NCOR2	9612	broad.mit.edu	37	12	124887093	124887093	+	Silent	SNP	C	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:124887093C>T	uc021rga.1	-	13	1614	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	NCOR2_uc021rgb.1_Silent_p.Q499Q|NCOR2_uc010tbb.2_Silent_p.Q499Q|NCOR2_uc010tbc.2_Silent_p.Q498Q|NCOR2_uc021rgc.1_Silent_p.Q498Q|NCOR2_uc010tba.2_Silent_p.Q499Q|NCOR2_uc001ugj.1_Silent_p.Q499Q	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	499	Poly-Gln.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity	p.Q499Q(14)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgctgctgttgttgct	0.617000														45			3		0	0	0.004672	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	G	G	rs146714035	by1000genomes	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:145367739A>G	uc021oul.1	+	82	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3445								p.K3445K(8)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000														647			11		0	0	0.001368	0	0
MLXIPL	51085	broad.mit.edu	37	7	73011747	73011747	+	Silent	SNP	T	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:73011747T>G	uc003tyn.1	-	8	1416	c.1368A>C	c.(1366-1368)ccA>ccC	p.P456P	MLXIPL_uc003tyj.1_5'UTR|MLXIPL_uc003tyk.1_Silent_p.P456P|MLXIPL_uc003tym.1_Silent_p.P456P|MLXIPL_uc003tyl.1_Silent_p.P456P|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Silent_p.P363P|MLXIPL_uc003tyq.1_Silent_p.P198P	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	456					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTGGGGTGGGTGGGAAGGCTG	0.637000														19			5		0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:9090831A>G	uc002mkp.3	-	0	1188	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522000														578			8		0	0	0.003080	0	0
CYP4F11	57834	broad.mit.edu	37	19	16024638	16024638	+	Silent	SNP	C	T	T	rs143714626	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:16024638C>T	uc002nbu.2	-	12	1515	c.1479G>A	c.(1477-1479)ccG>ccA	p.P493P	CYP4F11_uc010eab.1_3'UTR|CYP4F11_uc002nbt.2_Silent_p.P493P	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	493					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CAGTGTGGGTCGGCAGGATGC	0.627000														274			6		0	0	0.003080	0	0
SLC12A8	84561	broad.mit.edu	37	3	124826478	124826478	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:124826478C>T	uc003ehw.4	-	9	1709	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	SLC12A8_uc003ehv.4_Missense_Mutation_p.E518K|SLC12A8_uc003eht.4_Missense_Mutation_p.E319K|SLC12A8_uc010hry.3_Missense_Mutation_p.E271K	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	518					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						TCAGAGATCTCGACAGGGAAA	0.552000														660			14		0	0	0.003163	0	0
TOMM70A	9868	broad.mit.edu	37	3	100092471	100092471	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:100092471G>C	uc003dtw.3	-	7	1695	c.1246C>G	c.(1246-1248)Caa>Gaa	p.Q416E		NM_014820	NP_055635	O94826	TOM70_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) (TOMM70A), nuclear gene encoding mitochondrial protein, mRNA.	416					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TCTTCAACTTGATCAAGGAGT	0.358000														520			9		0	0	0.004482	0	0
KDM1A	23028	broad.mit.edu	37	1	23376993	23376993	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:23376993C>G	uc001bgi.2	+	2	780	c.631C>G	c.(631-633)Ctt>Gtt	p.L211V	KDM1A_uc001bgj.2_Missense_Mutation_p.L231V	NM_015013	NP_055828	O60341	KDM1A_HUMAN	Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA.	211	SWIRM.				blood coagulation|muscle cell development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	MyoD binding|androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H3-dimethyl-K4 specific)|ligand-dependent nuclear receptor transcription coactivator activity|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GAAGGTTTTTCTTTTCATTAG	0.383000														650			14		0	0	0.010504	0	0
SLC45A2	51151	broad.mit.edu	37	5	33947401	33947401	+	Missense_Mutation	SNP	G	A	A	rs149980670		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:33947401G>A	uc003jid.3	-	5	1327	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M	SLC45A2_uc003jie.3_Missense_Mutation_p.T412M	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA.	412					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.T412M(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AATAAATCCCGTCCCCAGGCC	0.488000														777			32		0	0	0.006999	0	0
POU3F2	5454	broad.mit.edu	37	6	99283224	99283224	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:99283224G>A	uc003ppe.3	+	0	645	c.475G>A	c.(475-477)Gct>Act	p.A159T		NM_005604	NP_005595	P20265	PO3F2_HUMAN	Homo sapiens POU class 3 homeobox 2 (POU3F2), mRNA.	159					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GCACCACGCCGCTAACCACCA	0.682000														24			3		0	0	0.004672	0	0
KIF25	3834	broad.mit.edu	37	6	168430272	168430272	+	Missense_Mutation	SNP	T	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:168430272T>A	uc003qwk.1	+	1	269	c.7T>A	c.(7-9)Tgg>Agg	p.W3R	KIF25_uc010kkt.1_Non-coding_Transcript|KIF25_uc003qwl.1_Missense_Mutation_p.W3R	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	3	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.W3R(2)|p.W3C(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCAGATGACATGGACCTCAGG	0.612000														812			10		0	0	0.000978	0	0
HNRNPC	3183	broad.mit.edu	37	14	21680019	21680019	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:21680019G>T	uc001vzy.3	-	6	870	c.626C>A	c.(625-627)tCt>tAt	p.S209Y	HNRNPC_uc001vzw.3_Missense_Mutation_p.S196Y|HNRNPC_uc001wad.3_Missense_Mutation_p.S129Y|HNRNPC_uc001vzx.3_Intron|HNRNPC_uc001vzz.3_Missense_Mutation_p.S196Y|HNRNPC_uc001waa.3_Missense_Mutation_p.S209Y|HNRNPC_uc010ail.3_Missense_Mutation_p.S209Y|HNRNPC_uc010tlq.2_Non-coding_Transcript|HNRNPC_uc001wac.3_Missense_Mutation_p.S153Y|HNRNPC_uc010tlr.2_Missense_Mutation_p.S74Y|HNRNPC_uc001wae.3_Missense_Mutation_p.S196Y	NM_031314	NP_112604	P07910	HNRPC_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C (C1/C2) (HNRNPC), transcript variant 1, mRNA.	209	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|nucleoplasm	RNA binding|identical protein binding|nucleotide binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		TTCCAGGAGAGAATCCACTTT	0.363000														811			15		1.50039e-11	1.80985e-11	0.001882	1	0
TFE3	7030	broad.mit.edu	37	X	48887764	48887764	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:48887764G>A	uc004dmb.3	-	9	1871	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W	TFE3_uc004dmc.3_Missense_Mutation_p.R440W	NM_006521	NP_006512	P19532	TFE3_HUMAN	Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.	545					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GAGGCAGCCCGCAGTGGGGAC	0.662000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""									242			5		0	0	0.000602	0	0
AVPR1B	553	broad.mit.edu	37	1	206230924	206230924	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:206230924C>A	uc001hds.2	+	1	1215	c.1057C>A	c.(1057-1059)Ctt>Att	p.L353I		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	353					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCTGCGTCACCTTGCCTGCTG	0.652000														117			4		0.00909568	0.00948901	0.009096	1	0
KDM2A	22992	broad.mit.edu	37	11	67018096	67018096	+	Silent	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:67018096G>A	uc001ojw.3	+	16	3459	c.2595G>A	c.(2593-2595)gaG>gaA	p.E865E	KDM2A_uc001ojx.3_Intron|KDM2A_uc001ojy.3_Silent_p.E559E|KDM2A_uc010rpn.2_Silent_p.E426E|KDM2A_uc001ojz.1_Silent_p.E323E|KDM2A_uc001oka.3_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	865					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						aggaggaggaggaagaTGACA	0.667000														208			5		0	0	0.000602	0	0
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:197657782C>T	uc002uts.3	-	2	466	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_uc010zgu.2_Silent_p.E103E|GTF3C3_uc002utu.3_Silent_p.E103E	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	103	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.E103E(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468000														322			7		0	0	0.003080	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40874	40874	+	Splice_Site	SNP	T	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrGL000218.1:40874T>A	uc011mfn.2	-	3	147	c.58_splice	c.e3-1	p.P20_splice	LOC100233156_uc003jah.2_Splice_Site_p.P20_splice					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GCTGCGGGGCTGGGGACAGCC	0.687000														62			3		0	0	0.001168	0	0
POTEC	388468	broad.mit.edu	37	18	14513734	14513734	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr18:14513734C>T	uc010dln.3	-	9	1914	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	487								p.G487E(4)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGTGATATTCCAGTGTTCTG	0.323000														369			8		0	0	0.001855	0	0
CYP1A2	1544	broad.mit.edu	37	15	75047332	75047332	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:75047332C>T	uc002ayr.1	+	6	1518	c.1454C>T	c.(1453-1455)cCg>cTg	p.P485L		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	485					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	p.P484T(1)|p.P485P(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	AGCGTGCCGCCGGGCGTGAAA	0.617000														529			8		0	0	0.003080	0	0
ESCO1	114799	broad.mit.edu	37	18	19153511	19153511	+	Missense_Mutation	SNP	G	A	A	rs149363245	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr18:19153511G>A	uc002kth.1	-	3	2228	c.1294C>T	c.(1294-1296)Cca>Tca	p.P432S	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.	432				P -> S (in Ref. 2; CAH10682).	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TGAGTCACTGGATGATGCATT	0.353000														622			7		0	0	0.003080	0	0
ZNF563	147837	broad.mit.edu	37	19	12429722	12429722	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:12429722T>C	uc002mtp.3	-	3	1355	c.1117A>G	c.(1117-1119)Acg>Gcg	p.T373A		NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	Homo sapiens zinc finger protein 563 (ZNF563), mRNA.	373					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						TGAGATAACGTTTTCCCACAC	0.413000														894			11		0	0	0.000978	0	0
EZR	7430	broad.mit.edu	37	6	159197482	159197482	+	Silent	SNP	A	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:159197482A>G	uc003qrt.4	-	6	968	c.753T>C	c.(751-753)aaT>aaC	p.N251N	EZR_uc011efs.2_Silent_p.N219N|EZR_uc003qru.4_Silent_p.N251N	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	251	FERM.|Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		ACTTTTTGTCATTGAAAGAGA	0.378000			T	ROS1	NSCLC									587			19		0	0	0.003330	0	0
ZNF551	90233	broad.mit.edu	37	19	58265928	58265928	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:58265928G>A	uc002qpx.3	+	2	1653	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q	ZNF587_uc002qqb.2_Intron|ZNF551_uc002qqa.3_Missense_Mutation_p.R477Q	NM_173632	NP_775903	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 776 (ZNF776), mRNA.	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R435Q(1)		endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGTCTCATTCGACATCAGCAG	0.448000														633			8		0	0	0.000978	0	0
LOC283922	283922	broad.mit.edu	37	16	74372765	74372765	+	Missense_Mutation	SNP	T	C	C	rs2549261	by1000genomes	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:74372765T>C	uc002fcr.2	-	8	1540	c.194A>G	c.(193-195)cAc>cGc	p.H65R	LOC283922_uc010vms.1_Non-coding_Transcript					Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit pseudogene (LOC283922), non-coding RNA.																		GAAGTCCCAGTGGGGAACCTT	0.502000														305			5		0	0	0.001984	0	0
FAM75D1	389763	broad.mit.edu	37	9	84606758	84606758	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr9:84606758T>C	uc004amn.3	+	3	1420	c.1373T>C	c.(1372-1374)aTt>aCt	p.I458T		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	458						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						TTAACCTCAATTGCTGTTAAG	0.423000														424			7		0	0	0.008291	0	0
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:146059006G>A	uc003ika.4	-	20	2864	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	973							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463000														884			14		0	0	0.001368	0	0
VPS11	55823	broad.mit.edu	37	11	118942420	118942420	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:118942420G>A	uc010ryx.2	+	5	787	c.745G>A	c.(745-747)Ggg>Agg	p.G249R	VPS11_uc010ryy.2_Missense_Mutation_p.G97R	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae) (VPS11), mRNA.	251					protein transport	HOPS complex|endocytic vesicle|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CATTGTGGCCGGGGATGAGTG	0.557000														318			5		0	0	0.001984	0	0
FAM179A	165186	broad.mit.edu	37	2	29274886	29274886	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:29274886G>A	uc010ezl.3	+	19	3338	c.2987G>A	c.(2986-2988)cGc>cAc	p.R996H	FAM179A_uc010ymm.2_Missense_Mutation_p.R941H|FAM179A_uc002rmr.4_Missense_Mutation_p.R523H	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	996							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGGCAGCCGCAAGGCCACT	0.557000														221			5		0	0	0.001168	0	0
SYNE2	23224	broad.mit.edu	37	14	64580216	64580216	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:64580216A>G	uc001xgl.3	+	65	12997	c.12767A>G	c.(12766-12768)aAc>aGc	p.N4256S	SYNE2_uc001xgm.3_Missense_Mutation_p.N4256S|SYNE2_uc021ruh.1_Missense_Mutation_p.N4271S|SYNE2_uc010apy.3_Missense_Mutation_p.N641S|SYNE2_uc010apz.1_Missense_Mutation_p.N148S	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4256					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAACAAGCCAACGTGGCAGTT	0.577000														197			10		0	0	0.008291	0	0
NUTF2	10204	broad.mit.edu	37	16	67899046	67899046	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:67899046C>A	uc002eup.3	+	1	112	c.13C>A	c.(13-15)Cca>Aca	p.P5T	NUTF2_uc010vkf.1_Missense_Mutation_p.P5T	NM_005796	NP_005787	P61970	NTF2_HUMAN	Homo sapiens nuclear transport factor 2 (NUTF2), mRNA.	5					protein transport	cytosol|nuclear pore	protein binding|transporter activity	p.P5T(2)		kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		GGGAGACAAGCCAATTTGGGA	0.488000														300			13		4.3838e-07	5.09683e-07	0.001855	1	0
WDR90	197335	broad.mit.edu	37	16	716059	716059	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:716059C>T	uc002cii.1	+	35	4598	c.4544C>T	c.(4543-4545)aCg>aTg	p.T1515M	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cin.1_Missense_Mutation_p.T130M|WDR90_uc002cio.1_Missense_Mutation_p.T114M|WDR90_uc010bqx.1_Missense_Mutation_p.T114M|RHOT2_uc010uum.2_5'Flank|RHOT2_uc002cip.3_5'Flank|RHOT2_uc002ciq.3_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1515										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GTCTCCCGCACGGCCATGGAG	0.677000														622			14		0	0	0.003163	0	0
TRH	7200	broad.mit.edu	37	3	129695840	129695840	+	Silent	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:129695840G>A	uc003enc.3	+	2	1071	c.510G>A	c.(508-510)gaG>gaA	p.E170E		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	170					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	p.E170E(2)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642000														340			7		0	0	0.006214	0	0
MUC4	4585	broad.mit.edu	37	3	195505772	195505772	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:195505772C>G	uc021xjp.1	-	1	12835	c.12679G>C	c.(12679-12681)Gtc>Ctc	p.V4227L	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	984					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.V4227L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGCTGGTGACAGGAAGAGGG	0.582000														96			4		0	0	0.000602	0	0
SLC22A8	9376	broad.mit.edu	37	11	62760741	62760741	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:62760741G>A	uc009yon.3	-	10	1718	c.1597C>T	c.(1597-1599)Cag>Tag	p.Q533*	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc009yom.3_Nonsense_Mutation_p.Q410*|SLC22A8_uc001nwo.3_Nonsense_Mutation_p.Q533*|SLC22A8_uc010rmm.2_Nonsense_Mutation_p.Q442*|SLC22A8_uc001nwp.2_3'UTR	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	533					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	p.L532I(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CCGTGAGGCTGTAGAGGGATC	0.607000														190			5		0	0	0.004482	0	0
RPS27A	6233	broad.mit.edu	37	2	55462084	55462084	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:55462084C>A	uc010yow.2	+	4	530	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	C2orf63_uc002ryh.2_5'Flank|C2orf63_uc002ryi.2_5'Flank|C2orf63_uc002ryj.2_5'Flank|RPS27A_uc002ryk.3_Missense_Mutation_p.L103M|RPS27A_uc021vhs.1_Missense_Mutation_p.L103M	NM_001135592	NP_002945	P62979	RS27A_HUMAN	Homo sapiens ribosomal protein S27a (RPS27A), transcript variant 2, mRNA.	103					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome			cervix(1)|ovary(1)|urinary_tract(1)	3						GCTGGCTGTCCTGAAATATTA	0.383000														155			4		0.00116845	0.00124591	0.001168	1	0
LOC642846	642846	broad.mit.edu	37	12	9447533	9447533	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:9447533G>A	uc010sgq.1	+	4	614	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	LOC642846_uc010sgp.1_Non-coding_Transcript|LOC642846_uc009zgn.1_Missense_Mutation_p.E25K|LOC642846_uc001qvo.2_Missense_Mutation_p.E25K					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.																		GGTCCTCGCCGAATACGAGAG	0.627000														25			7		0	0	0.008291	0	0
RPTN	126638	broad.mit.edu	37	1	152128689	152128689	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:152128689C>T	uc001ezs.1	-	2	951	c.886G>A	c.(886-888)Ggt>Agt	p.G296S		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	296	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACCGTAGTGGGAA	0.498000														916			12		0	0	0.006320	0	0
PFKP	5214	broad.mit.edu	37	10	3172122	3172122	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr10:3172122G>A	uc001igp.3	+	16	1871	c.1795G>A	c.(1795-1797)Gga>Aga	p.G599R	PFKP_uc001igq.3_Missense_Mutation_p.G591R|PFKP_uc009xhr.3_Missense_Mutation_p.G561R|PFKP_uc009xhs.1_Missense_Mutation_p.G383R|PFKP_uc009xht.3_Missense_Mutation_p.G337R|PFKP_uc009xhu.3_Missense_Mutation_p.G105R	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	599					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GCTCGCGGCCGGAGCTGATGC	0.632000														446			6		0	0	0.004482	0	0
TP53	7157	broad.mit.edu	37	17	7579317	7579317	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:7579317A>G	uc002gim.2	-	3	564	c.370T>C	c.(370-372)Tgc>Cgc	p.C124R	TP53_uc002gig.1_Missense_Mutation_p.C124R|TP53_uc002gih.3_Missense_Mutation_p.C124R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Missense_Mutation_p.C124R|TP53_uc010cnh.1_Missense_Mutation_p.C124R|TP53_uc002gij.2_Missense_Mutation_p.C124R|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Missense_Mutation_p.C85R|TP53_uc010cnk.1_Missense_Mutation_p.C139R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	124	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; 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.0?(8)|p.C124R(8)|p.C124G(6)|p.C124fs*46(3)|p.G59fs*23(3)|p.T123fs*24(2)|p.G105_T125del21(2)|p.C124fs*48(2)|p.C124fs*25(2)|p.V73fs*9(1)|p.C124Y(1)|p.C124*(1)|p.C124fs*1(1)|p.Y107fs*44(1)|p.C124S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.T123I(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)		CTGACCGTGCAAGTCACAGAC	0.542000		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)				649			11		0	0	0.000978	0	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	C	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000														45			3		0	0	0.004672	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50664531	50664531	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr22:50664531T>C	uc003bkb.1	-	8	2293	c.1781A>G	c.(1780-1782)gAc>gGc	p.D594G	TUBGCP6_uc010har.1_Missense_Mutation_p.D594G|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'UTR	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	594					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GACGTATATGTCGTGGGCAAT	0.557000														895			26		0	0	0.002780	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	A	A	rs145791878	by1000genomes	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:89774252G>A	uc010rua.2	+	7	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N		NM_001195234	NP_001182163	P0CI26	T49L2_HUMAN	Homo sapiens tripartite motif containing 49-like 2 (TRIM49L2), mRNA.	298	B30.2/SPRY.					intracellular	zinc ion binding	p.S298N(6)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323000														224			5		0	0	0.004482	0	0
IMPAD1	54928	broad.mit.edu	37	8	57905955	57905955	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:57905955G>C	uc003xte.4	-	0	476	c.190C>G	c.(190-192)Cgc>Ggc	p.R64G		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	Homo sapiens inositol monophosphatase domain containing 1 (IMPAD1), mRNA.	64						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				AGCATCTCGCGCAAGTCCACG	0.741000														177			7		0	0	0.003080	0	0
MED12	9968	broad.mit.edu	37	X	70360666	70360666	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:70360666C>T	uc004dyy.3	+	41	6425	c.6226C>T	c.(6226-6228)Cag>Tag	p.Q2076*	MED12_uc004dyz.3_Nonsense_Mutation_p.Q2075*|MED12_uc004dza.3_Nonsense_Mutation_p.Q1926*|MED12_uc010nla.3_Nonsense_Mutation_p.Q705*	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	2076	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					gcagcagcagcagtaccacat	0.597000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							294			7		0	0	0.001984	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12262126	12262126	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:12262126G>T	uc001att.3	+	8	1092	c.1003G>T	c.(1003-1005)Gcc>Tcc	p.A335S	TNFRSF1B_uc001atu.3_Missense_Mutation_p.A140S|TNFRSF1B_uc009vnk.3_Non-coding_Transcript	NM_001066	NP_001057	P20333	TNR1B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1B (TNFRSF1B), mRNA.	335					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	GGAGAGCTCGGCCAGTGCGTT	0.706000														68			11		0.00136819	0.00145089	0.001368	1	0
MAST4	375449	broad.mit.edu	37	5	66461895	66461895	+	Silent	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:66461895G>A	uc021xzk.1	+	28	7196	c.6888G>A	c.(6886-6888)gaG>gaA	p.E2296E	MAST4_uc003jut.2_Silent_p.E2107E|MAST4_uc003juw.3_Silent_p.E2035E|MAST4_uc003jux.3_Intron	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	2299						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGCCCCTGGAGGTGCTGGAGA	0.627000											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		121			3		0	0	0.004672	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:155887393T>G	uc001fmi.1	-	10	1361	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_uc001fmj.1_Missense_Mutation_p.Q446P|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000														360			39		0	0	0.003610	0	0
ASPM	259266	broad.mit.edu	37	1	197062202	197062202	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:197062202C>T	uc001gtu.3	-	20	9531	c.9274G>A	c.(9274-9276)Ggt>Agt	p.G3092S	ASPM_uc001gtv.3_Missense_Mutation_p.G1507S|ASPM_uc001gtw.4_Missense_Mutation_p.G940S	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	3092	IQ 37.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACTAGCCAACCACGCACCAGT	0.323000														517			10		0	0	0.001368	0	0
TAP2	6891	broad.mit.edu	37	6	32800563	32800563	+	Silent	SNP	C	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:32800563C>T	uc011dqf.1	-	5	1106	c.984G>A	c.(982-984)gcG>gcA	p.A328A	TAP2_uc003ocb.1_Silent_p.A328A|TAP2_uc003occ.3_Silent_p.A328A|TAP2_uc003ocd.3_Silent_p.A328A	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	328	ABC transmembrane type-1.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding	p.A328A(1)									CCACCTGCCCCGCCCTGGCCA	0.592000														509			8		0	0	0.008291	0	0
FBXW10	10517	broad.mit.edu	37	17	18675802	18675802	+	Missense_Mutation	SNP	C	T	T	rs150329747	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:18675802C>T	uc002gul.3	+	10	2403	c.2171C>T	c.(2170-2172)aCg>aTg	p.T724M	FBXW10_uc002guj.3_Missense_Mutation_p.T695M|FBXW10_uc002guk.3_Missense_Mutation_p.T695M|FBXW10_uc010cqh.2_Missense_Mutation_p.T642M	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	695										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GTggaaaaaacgaaacaaaag	0.413000														921			12		0	0	0.002450	0	0
LPAR3	23566	broad.mit.edu	37	1	85279808	85279808	+	Silent	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:85279808G>A	uc001dkl.2	-	1	822	c.783C>T	c.(781-783)ctC>ctT	p.L261L	LPAR3_uc009wcj.1_Silent_p.L261L	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	261					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TCAGGCCGTCGAGGAGCAGAA	0.582000														531			18		0	0	0.007413	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465897	24465897	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr13:24465897C>T	uc010tcw.2	-	2	553	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	MIPEP_uc001uox.4_5'Flank|C1QTNF9B-AS1_uc001uoy.3_Missense_Mutation_p.R51W|C1QTNF9B-AS1_uc009zzx.3_Missense_Mutation_p.R60W|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.2_Missense_Mutation_p.R178Q	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA.	178	Collagen-like 3.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCTTATTCCCCGGACTCCTGG	0.587000														251			5		0	0	0.002445	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904069	21904069	+	RNA	SNP	C	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:21904069C>G	uc002gza.2	+	0		c.8C>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		tccgaggctccggcctgacct	0.662000														106			5		0	0	0.006214	0	0
WDR34	89891	broad.mit.edu	37	9	131403176	131403176	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr9:131403176C>T	uc004bvq.1	-	1	353	c.229G>A	c.(229-231)Gcc>Acc	p.A77T	WDR34_uc011mbi.2_5'UTR	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	Homo sapiens WD repeat domain 34 (WDR34), mRNA.	77						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CTGGCCTGGGCGGATGCACTG	0.652000														430			12		0	0	0.001855	0	0
ABHD16B	140701	broad.mit.edu	37	20	62493290	62493290	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr20:62493290C>A	uc002ygx.1	+	0	725	c.397C>A	c.(397-399)Cgc>Agc	p.R133S		NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	Homo sapiens abhydrolase domain containing 16B (ABHD16B), mRNA.	133							hydrolase activity	p.R133S(4)		endometrium(2)|kidney(1)|lung(3)	6						GGGCCAAGAGCGCCTCGTGGA	0.711000														133			20		1.00905e-13	1.23257e-13	0.008871	1	0
RASAL2	9462	broad.mit.edu	37	1	178412311	178412311	+	Nonsense_Mutation	SNP	G	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:178412311G>T	uc001glq.3	+	7	2193	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*	RASAL2_uc001glr.3_Nonsense_Mutation_p.E329*	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	329	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.D477G(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GAGAAATAAAGAGGAGTTGGC	0.448000														440			6		5.18039e-06	5.74607e-06	0.003080	1	0
CACNA1I	8911	broad.mit.edu	37	22	40075752	40075752	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr22:40075752C>G	uc003ayc.3	+	32	5420	c.5420C>G	c.(5419-5421)tCt>tGt	p.S1807C	CACNA1I_uc003ayd.3_Missense_Mutation_p.S1772C|CACNA1I_uc003aye.3_Missense_Mutation_p.S1722C|CACNA1I_uc003ayf.3_Missense_Mutation_p.S1687C	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1807					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GACAGCGTCTCTTTAATCATC	0.632000														143			5		0	0	0.001168	0	0
ARVCF	421	broad.mit.edu	37	22	19959918	19959918	+	Silent	SNP	G	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr22:19959918G>T	uc002zqz.3	-	16	2928	c.2658C>A	c.(2656-2658)ggC>ggA	p.G886G	ARVCF_uc002zqy.3_Silent_p.G402G	NM_001670	NP_001661	O00192	ARVC_HUMAN	Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA.	886					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CATCCCGGCTGCCAGTTTTCT	0.652000														462			14		3.52763e-06	4.0049e-06	0.004990	1	0
ZNF681	148213	broad.mit.edu	37	19	23926861	23926861	+	Silent	SNP	C	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:23926861C>T	uc002nrk.4	-	3	1633	c.1491G>A	c.(1489-1491)aaG>aaA	p.K497K	ZNF681_uc002nrl.4_Silent_p.K428K|ZNF681_uc002nrj.4_Silent_p.K428K	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K497N(2)|p.K428N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TATGAATTCTCTTATGTGTAG	0.358000														642			8		0	0	0.008291	0	0
ZNF831	128611	broad.mit.edu	37	20	57768617	57768617	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr20:57768617C>T	uc002yan.3	+	0	2543	c.2543C>T	c.(2542-2544)aCg>aTg	p.T848M		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	848						intracellular	nucleic acid binding|zinc ion binding	p.P847H(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGTGGGCCCACGCAGCCTGCC	0.637000														444			8		0	0	0.004482	0	0
TRPS1	7227	broad.mit.edu	37	8	116430660	116430660	+	Silent	SNP	A	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:116430660A>T	uc003yny.3	-	5	3299	c.2721T>A	c.(2719-2721)gtT>gtA	p.V907V	TRPS1_uc011lhy.2_Silent_p.V898V|TRPS1_uc003ynz.3_Silent_p.V894V|TRPS1_uc010mcy.3_Silent_p.V894V	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	894					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)			TGGCACAAAAAACACCGGAGC	0.488000									Langer-Giedion syndrome					768			27		0	0	0.002836	0	0
NOTUM	147111	broad.mit.edu	37	17	79910974	79910974	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:79910974C>T	uc010wvg.2	-	10	1626	c.1354G>A	c.(1354-1356)Gtc>Atc	p.V452I		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	Homo sapiens notum pectinacetylesterase homolog (Drosophila) (NOTUM), mRNA.	452						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TGGTCTCGGACGGTGGGGCAT	0.662000														440			7		0	0	0.001984	0	0
SRCAP	10847	broad.mit.edu	37	16	30723229	30723229	+	Silent	SNP	A	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:30723229A>G	uc002dze.1	+	11	1951	c.1566A>G	c.(1564-1566)gcA>gcG	p.A522A	SRCAP_uc021tgn.1_Silent_p.A522A|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.A379A	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	522	Glu-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)			GAAGTTCAGCATCAGAGGAAT	0.483000														422			13		0	0	0.001855	0	0
LRRC3	81543	broad.mit.edu	37	21	45877295	45877295	+	Silent	SNP	G	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr21:45877295G>T	uc021wjs.1	+	0	768	c.768G>T	c.(766-768)ggG>ggT	p.G256G	LRRC3_uc002zfa.3_Silent_p.G256G	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	256						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCGGCCCGGGGCCCTAGCGCC	0.637000														224			15		3.99206e-14	4.93889e-14	0.007413	1	0
SPTA1	6708	broad.mit.edu	37	1	158631116	158631116	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:158631116G>C	uc001fst.1	-	17	2747	c.2548C>G	c.(2548-2550)Caa>Gaa	p.Q850E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	850					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTATCTCTTGAATGCGTGGT	0.443000														587			14		0	0	0.010504	0	0
MDN1	23195	broad.mit.edu	37	6	90448153	90448153	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:90448153G>A	uc003pnn.1	-	32	4731	c.4615C>T	c.(4615-4617)Cgg>Tgg	p.R1539W		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	1539					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCTGTAAACCGGTTTCTTAAG	0.378000														499			12		0	0	0.004990	0	0
DHX58	79132	broad.mit.edu	37	17	40262918	40262918	+	Silent	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:40262918G>A	uc002hyw.3	-	4	607	c.384C>T	c.(382-384)atC>atT	p.I128I	DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Silent_p.I121I	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.	128	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|RNA binding|helicase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CATCCACCACGATCAGGGAGA	0.542000														685			22		0	0	0.009535	0	0
ZNF442	79973	broad.mit.edu	37	19	12462842	12462842	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:12462842T>C	uc002mtr.1	-	4	859	c.248A>G	c.(247-249)aAt>aGt	p.N83S	ZNF442_uc010xmk.1_Missense_Mutation_p.N14S	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	83	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CCTCCTGGGATTTCTGTGCTG	0.358000														526			12		0	0	0.004007	0	0
SLC4A5	57835	broad.mit.edu	37	2	74474203	74474203	+	Silent	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:74474203G>A	uc002sko.1	-	13	2021	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Silent_p.F673F|SLC4A5_uc010ffc.1_Silent_p.F673F|SLC4A5_uc002skp.1_Silent_p.F609F|SLC4A5_uc002sks.1_Silent_p.F673F	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	673						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGTAGTGATGAAGTTTGGCT	0.532000														889			38		0	0	0.003271	0	0
RGPD1	400966	broad.mit.edu	37	2	87140987	87140987	+	Silent	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:87140987G>A	uc010fgv.3	+	0	53	c.15G>A	c.(13-15)aaG>aaA	p.K5K	RMND5A_uc002srs.4_Intron	NM_001078170	NP_001071638	Q68DN6	RGPD1_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 2 (RGPD2), mRNA.	0					intracellular transport		binding			breast(1)|endometrium(1)|lung(1)	3						GGCGCAGCAAGGCCTACGGGG	0.672000														93			4		0	0	0.000602	0	0
MAP7D3	79649	broad.mit.edu	37	X	135313711	135313711	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:135313711C>T	uc004ezt.3	-	7	1626	c.1405G>A	c.(1405-1407)Gct>Act	p.A469T	MAP7D3_uc004ezs.3_Missense_Mutation_p.A434T|MAP7D3_uc011mwc.2_Missense_Mutation_p.A451T|MAP7D3_uc010nsa.2_Missense_Mutation_p.A427T	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	469						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ACCTTTGGAGCGTCTCTCGCT	0.428000														833			24		0	0	0.002780	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:2062350C>G	uc001qjx.1	-	6	836	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_uc010sdy.1_Missense_Mutation_p.Q150H	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	Homo sapiens DCP1 decapping enzyme homolog B (S. cerevisiae) (DCP1B), mRNA.	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(16)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000														331			7		0	0	0.004482	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	G	G	rs121913530		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:25398285C>G	uc001rgp.1	-	1	215	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_uc001rgq.1_Missense_Mutation_p.G12R|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(8564)|p.G12C(5976)|p.G12V(5758)|p.G12S(2576)|p.G12R(1579)|p.G12A(1401)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G10_A11insG(5)|p.A11_G12insGA(4)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.G12E(3)|p.A11P(2)|p.G12fs*3(1)|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)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				185			8		0	0	0.006214	0	0
MAP4	4134	broad.mit.edu	37	3	47958144	47958144	+	Silent	SNP	A	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:47958144A>G	uc003csb.2	-	6	1699	c.1173T>C	c.(1171-1173)gcT>gcC	p.A391A	MAP4_uc003csc.3_Silent_p.A391A|MAP4_uc011bbf.1_Silent_p.A368A|MAP4_uc003csf.3_Silent_p.A408A	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	391	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.A391A(3)|p.L390L(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CCTTGGAAGGAGCCAAGTCCA	0.443000														898			9		0	0	0.008291	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346134	89346134	+	Silent	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:89346134G>A	uc002fmx.1	-	8	7277	c.6816C>T	c.(6814-6816)gaC>gaT	p.D2272D	ANKRD11_uc002fmy.1_Silent_p.D2272D|ANKRD11_uc002fnc.1_Silent_p.D2272D|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.D2229D	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2272	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGGCGGGGCCGTCAGGGGCAC	0.756000														40			3		0	0	0.004672	0	0
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:23544867T>C	uc002nre.3	-	3	1027	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_uc010xrj.2_Missense_Mutation_p.H273R	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	305						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413000														810			17		0	0	0.010504	0	0
ELAVL3	1995	broad.mit.edu	37	19	11565684	11565684	+	Missense_Mutation	SNP	G	A	A	rs143463189		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:11565684G>A	uc002mry.1	-	6	1141	c.761C>T	c.(760-762)tCg>tTg	p.S254L	ELAVL3_uc002mrx.1_Intron	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA.	254					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						GGCGATGAGCGACAGGGGACT	0.677000														902			13		0	0	0.002450	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	Missense_Mutation	SNP	C	T	T	rs141013110		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:26422353C>T	uc011dkl.1	+	0	37	c.7C>T	c.(7-9)Cca>Tca	p.P3S	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.									p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000														817			32		0	0	0.004878	0	0
LAMA4	3910	broad.mit.edu	37	6	112486440	112486440	+	Silent	SNP	C	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:112486440C>T	uc003pvu.2	-	12	1899	c.1590G>A	c.(1588-1590)gtG>gtA	p.V530V	LAMA4_uc003pvv.2_Silent_p.V523V|LAMA4_uc003pvt.2_Silent_p.V523V	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	530	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GAGACATGTTCACCACTTCCA	0.453000														549			12		0	0	0.000978	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000														114			17		0	0	0.002299	0	0
SLC12A2	6558	broad.mit.edu	37	5	127420309	127420309	+	Silent	SNP	G	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:127420309G>T	uc003kus.3	+	0	827	c.663G>T	c.(661-663)gtG>gtT	p.V221V	FLJ33630_uc003kun.3_5'Flank|FLJ33630_uc003kuo.3_5'Flank|FLJ33630_uc003kuq.1_5'Flank|FLJ33630_uc003kur.3_5'Flank|SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Silent_p.V221V	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	221					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGGACGCTGTGCCCAGGATCG	0.637000														181			11		0.00010058	0.000110295	0.001368	1	0
OR10G4	390264	broad.mit.edu	37	11	123886737	123886737	+	Silent	SNP	T	C	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:123886737T>C	uc010sac.2	+	0	456	c.456T>C	c.(454-456)tcT>tcC	p.S152S		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCAGTGGCTCTCTGCACTCTG	0.562000														561			18		0	0	0.001882	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:6536011_6536013delCTC	uc001anp.1	-	3	856_858	c.358_360delGAG	c.(358-360)gagdel	p.E120del	PLEKHG5_uc001ann.1_In_Frame_Del_p.E80del|PLEKHG5_uc001ano.1_In_Frame_Del_p.E99del|PLEKHG5_uc001anq.1_In_Frame_Del_p.E120del|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_In_Frame_Del_p.E112del|PLEKHG5_uc001ank.1_In_Frame_Del_p.E43del|PLEKHG5_uc009vmb.1_In_Frame_Del_p.E43del|PLEKHG5_uc001anl.1_In_Frame_Del_p.E43del|PLEKHG5_uc001anm.1_In_Frame_Del_p.E43del	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	99					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	872	---	---	22	---					
TNFRSF9	3604	broad.mit.edu	37	1	7998253	7998254	+	Splice_Site	INS	-	T	T	rs9657965	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:7998253_7998254insT	uc001aot.3	-	5	607	c.346_splice	c.e5+1	p.G116_splice		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	116					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.G116S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GCAAACGTACCTTTTTTTGTCA	0.411													---	1297	---	---	8	---					
CLSTN1	22883	broad.mit.edu	37	1	9790640	9790642	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:9790640_9790642delCCT	uc001aqh.3	-	18	3629_3631	c.2870_2872delAGG	c.(2869-2874)gagggg>ggg	p.E957del	CLSTN1_uc001aqi.3_In_Frame_Del_p.E947del|CLSTN1_uc010oag.2_In_Frame_Del_p.E938del|CLSTN1_uc001aqf.3_In_Frame_Del_p.E221del	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	957	Glu-rich (highly acidic).				homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTGCTCCCCCTCCTCCTCCTC	0.645													---	714	---	---	9	---					
AADACL3	126767	broad.mit.edu	37	1	12785494	12785494	+	Frame_Shift_Del	DEL	G	-	-	rs7513079	by1000genomes	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:12785494delG	uc009vnn.1	+	3	817	c.584delG	c.(583-585)tgtfs	p.C195fs	AADACL3_uc001aug.1_Frame_Shift_Del_p.C125fs	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	195			C -> F (in dbSNP:rs7513079).				hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTGCTACTGTTTTTTTCAA	0.458													---	1483	---	---	16	---					
EPHA8	2046	broad.mit.edu	37	1	22927799	22927800	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:22927799_22927800insC	uc001bfx.1	+	15	2861_2862	c.2736_2737insC	c.(2734-2739)ccacccfs	p.P912fs		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	912						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCAGGTGCCCACCCCCTGCCTT	0.698													---	792	---	---	8	---					
SNIP1	79753	broad.mit.edu	37	1	38003368	38003370	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:38003368_38003370delTCC	uc001cbi.3	-	3	1243_1245	c.1170_1172delGGA	c.(1168-1173)gaggaa>gaa	p.390_391EE>E	SNIP1_uc010oid.2_Non-coding_Transcript	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Homo sapiens Smad nuclear interacting protein 1 (SNIP1), mRNA.	390	Poly-Glu.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				AGACACTTCTTCCTCCTCCTCCT	0.448													---	1008	---	---	12	---					
RSPO1	284654	broad.mit.edu	37	1	38078467	38078469	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:38078467_38078469delTGC	uc001cbl.2	-	7	1642_1644	c.750_752delGCA	c.(748-753)cagcaa>caa	p.250_251QQ>Q	RSPO1_uc009vvf.2_In_Frame_Del_p.223_224QQ>Q|RSPO1_uc001cbm.2_In_Frame_Del_p.250_251QQ>Q|RSPO1_uc009vvg.2_In_Frame_Del_p.187_188QQ>Q	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	250					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTGTCCCTTGCTGCTGCTGCT	0.621													---	1240	---	---	13	---					
ZMPSTE24	10269	broad.mit.edu	37	1	40756542	40756543	+	Frame_Shift_Ins	INS	-	T	T	rs137854889		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:40756542_40756543insT	uc001cfg.3	+	8	1287_1288	c.1076_1077insT	c.(1075-1077)tgtfs	p.C359fs		NM_005857	NP_005848	O75844	FACE1_HUMAN	Homo sapiens zinc metallopeptidase (STE24 homolog, S. cerevisiae) (ZMPSTE24), mRNA.	359						Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TCTTTCCTGTGTTTTTTTTTAT	0.332													---	465	---	---	15	---					
PTPRF	5792	broad.mit.edu	37	1	44071946	44071948	+	In_Frame_Del	DEL	GCG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:44071946_44071948delGCG	uc001cjr.3	+	19	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_uc001cjs.3_In_Frame_Del_p.R1169del|PTPRF_uc001cju.3_In_Frame_Del_p.R556del|PTPRF_uc009vwt.3_In_Frame_Del_p.R738del|PTPRF_uc001cjv.3_In_Frame_Del_p.R638del|PTPRF_uc001cjw.3_In_Frame_Del_p.R404del	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1178					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631													---	881	---	---	10	---					
MAST2	23139	broad.mit.edu	37	1	46494559	46494559	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:46494559delT	uc001cov.3	+	17	2455	c.2172delT	c.(2170-2172)cctfs	p.P724fs	MAST2_uc001cow.3_Frame_Shift_Del_p.P724fs|MAST2_uc001coy.1_Frame_Shift_Del_p.P398fs|MAST2_uc001coz.1_Frame_Shift_Del_p.P609fs|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	724	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GCTGCGTCCCTTTTTTTGGAG	0.552													---	2075	---	---	11	---					
USP24	23358	broad.mit.edu	37	1	55603222	55603224	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:55603222_55603224delCTG	uc021onw.1	-	27	3418_3420	c.3165_3167delCAG	c.(3163-3168)agcagt>agt	p.1055_1056SS>S	USP24_uc001cyg.4_In_Frame_Del_p.889_890SS>S	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	1055	Ser-rich.				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.S1055S(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AAAAACCCCACTGCTGCTGCTGC	0.448													---	270	---	---	7	---					
ANKRD13C	81573	broad.mit.edu	37	1	70790592	70790592	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:70790592delT	uc001dex.4	-	2	847	c.521delA	c.(520-522)aatfs	p.N174fs	ANKRD13C_uc009wbk.3_Intron	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	Homo sapiens ankyrin repeat domain 13C (ANKRD13C), mRNA.	174					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TCCCTGAGCATTTTTCACCTT	0.373													---	1051	---	---	7	---					
ST6GALNAC5	81849	broad.mit.edu	37	1	77334277	77334279	+	In_Frame_Del	DEL	GCA	-	-	rs113832855		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:77334277_77334279delGCA	uc001dhi.3	+	1	286_288	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	ST6GALNAC5_uc010ori.2_In_Frame_Del_p.Q49del|ST6GALNAC5_uc009wbw.3_Non-coding_Transcript	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA.	49	Poly-Gln.				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.700													---	315	---	---	9	---					
LPAR3	23566	broad.mit.edu	37	1	85331664	85331665	+	Frame_Shift_Ins	INS	-	A	A	rs76299065		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:85331664_85331665insA	uc001dkl.2	-	0	178_179	c.139_140insT	c.(139-141)tctfs	p.S47fs	LPAR3_uc009wcj.1_Frame_Shift_Ins_p.S47fs	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	47					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CAGAGAATTAGAAAAAAAAATA	0.401													---	872	---	---	22	---					
WDR63	126820	broad.mit.edu	37	1	85547084	85547084	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:85547084delA	uc001dkt.3	+	3	462	c.271delA	c.(271-273)aaafs	p.K91fs	WDR63_uc009wcl.3_Frame_Shift_Del_p.K91fs	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	91										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CCACCCAGTCAAAAAAATTGT	0.383													---	917	---	---	7	---					
BCL10	8915	broad.mit.edu	37	1	85733513	85733513	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:85733513delA	uc021opd.1	-	2	1051	c.499delT	c.(499-501)tctfs	p.S167fs		NM_003921	NP_003912	O95999	BCL10_HUMAN	Homo sapiens B-cell CLL/lymphoma 10 (BCL10), mRNA.	167					T cell receptor signaling pathway|apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		GAATTAGTAGAAAAAAAGGGC	0.448			T	IGH@	MALT								---	916	---	---	8	---					
COL24A1	255631	broad.mit.edu	37	1	86283753	86283753	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:86283753delT	uc001dlj.3	-	45	3882	c.3807delA	c.(3805-3807)aaafs	p.K1269fs	COL24A1_uc001dli.3_Frame_Shift_Del_p.K405fs|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Frame_Shift_Del_p.K569fs|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1269	Collagen-like 14.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAGGAGCTCCTTTTTTCCCCT	0.413													---	832	---	---	7	---					
ODF2L	57489	broad.mit.edu	37	1	86826141	86826142	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:86826141_86826142insT	uc001dll.2	-	11	1583_1584	c.1221_1222insA	c.(1219-1224)aaacagfs	p.K407fs	ODF2L_uc001dlp.3_Frame_Shift_Ins_p.K407fs|ODF2L_uc010osg.2_Frame_Shift_Ins_p.K378fs|ODF2L_uc001dlm.2_Frame_Shift_Ins_p.K378fs|ODF2L_uc021opg.1_Frame_Shift_Ins_p.K247fs|ODF2L_uc001dlq.2_Frame_Shift_Ins_p.K208fs|ODF2L_uc009wcr.2_Frame_Shift_Ins_p.K247fs	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN	Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.	407						centrosome		p.K378fs*22(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		AGGGTTTTCTGTTTTTTTTCTA	0.287													---	529	---	---	7	---					
ZNF326	284695	broad.mit.edu	37	1	90470782	90470784	+	In_Frame_Del	DEL	GTG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:90470782_90470784delGTG	uc001dnq.2	+	3	327_329	c.188_190delGTG	c.(187-192)agtggt>agt	p.G68del	ZNF326_uc001dnp.4_In_Frame_Del_p.G68del|ZNF326_uc009wda.1_In_Frame_Del_p.G68del|ZNF326_uc001dnr.2_Intron	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	Homo sapiens zinc finger protein 326 (ZNF326), transcript variant 1, mRNA.	68	Gly-rich.|Mediates transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GACAATCACAGTGGTGGTGGTGG	0.409													---	993	---	---	7	---					
ZNF644	84146	broad.mit.edu	37	1	91405205	91405205	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:91405205delT	uc001dnw.3	-	2	1989	c.1706delA	c.(1705-1707)aagfs	p.K569fs	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Frame_Shift_Del_p.K569fs	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CATGAAAGTCTTTTTTTGTGT	0.378													---	731	---	---	7	---					
BRDT	676	broad.mit.edu	37	1	92447228	92447230	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:92447228_92447230delAGC	uc001dol.4	+	12	2336_2338	c.1918_1920delAGC	c.(1918-1920)agcdel	p.S648del	BRDT_uc010osz.2_In_Frame_Del_p.S652del|BRDT_uc001dok.4_In_Frame_Del_p.S648del|BRDT_uc009wdf.3_In_Frame_Del_p.S575del|BRDT_uc010otb.2_In_Frame_Del_p.S602del|BRDT_uc010ota.2_In_Frame_Del_p.S602del|BRDT_uc001dom.4_In_Frame_Del_p.S648del	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	648	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGAGTGAGagcagcagcagca	0.419													---	731	---	---	12	---					
AGL	178	broad.mit.edu	37	1	100378028	100378028	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:100378028delA	uc001dsi.1	+	28	4304	c.3904delA	c.(3904-3906)aaafs	p.K1302fs	AGL_uc001dsj.1_Frame_Shift_Del_p.K1302fs|AGL_uc001dsk.1_Frame_Shift_Del_p.K1302fs|AGL_uc001dsl.1_Frame_Shift_Del_p.K1302fs|AGL_uc001dsm.1_Frame_Shift_Del_p.K1286fs|AGL_uc001dsn.1_Frame_Shift_Del_p.K1285fs	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	1302					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GGAATTATCCAAAAAAAATAT	0.323													---	679	---	---	7	---					
HIAT1	64645	broad.mit.edu	37	1	100534122	100534122	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:100534122delT	uc001dst.3	+	6	799	c.799delT	c.(799-801)tttfs	p.F267fs		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	Homo sapiens hippocampus abundant transcript 1 (HIAT1), mRNA.	267					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ATATTCCAGCTTTTTTTTATA	0.388													---	929	---	---	10	---					
CLCC1	23155	broad.mit.edu	37	1	109477407	109477407	+	Frame_Shift_Del	DEL	T	-	-	rs150759040	by1000genomes	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:109477407delT	uc021ora.1	-	9	1552	c.1541delA	c.(1540-1542)aagfs	p.K514fs	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Frame_Shift_Del_p.K464fs|CLCC1_uc001dwf.1_Frame_Shift_Del_p.K514fs|CLCC1_uc009wes.1_Frame_Shift_Del_p.K393fs|CLCC1_uc009wet.1_Frame_Shift_Del_p.K329fs	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	514						Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GAGCTGGGCCTTTTCCGCTGC	0.597													---	1264	---	---	7	---					
CLCC1	23155	broad.mit.edu	37	1	109479802	109479803	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:109479802_109479803delTC	uc021ora.1	-	8	1290_1291	c.1279_1280delGA	c.(1279-1281)gatfs	p.D427fs	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Frame_Shift_Del_p.D377fs|CLCC1_uc001dwf.1_Frame_Shift_Del_p.D427fs|CLCC1_uc009wes.1_Frame_Shift_Del_p.D306fs|CLCC1_uc009wet.1_Frame_Shift_Del_p.D242fs	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	427						Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CAAGTCAACATCTCTCTCTCTC	0.520													---	836	---	---	8	---					
C1orf194	127003	broad.mit.edu	37	1	109649189	109649189	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:109649189delT	uc009wev.3	-	3	475	c.407delA	c.(406-408)aagfs	p.K136fs	C1orf194_uc001dwp.4_Non-coding_Transcript|C1orf194_uc009wew.3_Frame_Shift_Del_p.K124fs	NM_001122961	NP_001116433	Q5T5A4	CA194_HUMAN	Homo sapiens chromosome 1 open reading frame 194 (C1orf194), mRNA.	136										large_intestine(2)|lung(2)|ovary(2)	6						GATGGACTCCTTTTTAGGGTT	0.483													---	1863	---	---	7	---					
SYCP1	6847	broad.mit.edu	37	1	115537600	115537601	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:115537600_115537601insA	uc001efr.3	+	31	3100_3101	c.2891_2892insA	c.(2890-2892)agafs	p.R964fs	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Frame_Shift_Ins_p.R964fs|SYCP1_uc009wgw.3_Frame_Shift_Ins_p.R939fs	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	964	Arg/Lys-rich (basic).				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		AAAATGGATAGAAAAAAAAAAC	0.356													---	424	---	---	39	---					
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	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													---	679	---	---	9	---					
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:145457040_145457042delTCT	uc001enp.1	-	6	626_628	c.519_521delAGA	c.(517-522)gaagag>gag	p.173_174EE>E		NM_032305	NP_115681	Q9BT43	RPC7L_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like (POLR3GL), mRNA.	173	Glu-rich.									endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.448													---	151	---	---	7	---					
MCL1	4170	broad.mit.edu	37	1	150551492	150551494	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:150551492_150551494delTCC	uc001euz.3	-	0	721_723	c.513_515delGGA	c.(511-516)gaggac>gac	p.E171del	MCL1_uc010pch.2_In_Frame_Del_p.E61del|MCL1_uc021oyf.1_Intron|MCL1_uc001eva.3_In_Frame_Del_p.E171del	NM_021960	NP_068779	Q07820	MCL1_HUMAN	Homo sapiens myeloid cell leukemia sequence 1 (BCL2-related) (MCL1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	171	PEST-like.				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-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)			GTACAACTCGTCCTCCTCCTCCT	0.635													---	699	---	---	9	---					
LINGO4	339398	broad.mit.edu	37	1	151774033	151774033	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:151774033delG	uc001ezf.1	-	1	1338	c.1148delC	c.(1147-1149)cctfs	p.P383fs	LINGO4_uc021oyu.1_Frame_Shift_Del_p.P383fs	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	383	LRRCT.					integral to membrane		p.P383T(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCACAGGCAGGGGGGGACAT	0.632													---	476	---	---	7	---					
TCHH	7062	broad.mit.edu	37	1	152083818	152083820	+	In_Frame_Del	DEL	CGG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:152083818_152083820delCGG	uc009wne.1	-	2	2145_2147	c.1873_1875delCCG	c.(1873-1875)ccgdel	p.P625del	TCHH_uc001ezp.2_In_Frame_Del_p.P625del	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	625	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCCTCCGGCTCCTCGCGC	0.680													---	786	---	---	8	---					
SLC27A3	11000	broad.mit.edu	37	1	153751860	153751860	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:153751860delC	uc001fcz.3	+	8	1992	c.1927delC	c.(1927-1929)cccfs	p.P643fs	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	643					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGTTCTGCGTCCCCCCCACGC	0.617													---	818	---	---	7	---					
FLAD1	80308	broad.mit.edu	37	1	154962050	154962050	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:154962050delA	uc001fgf.2	+	2	1533	c.1132delA	c.(1132-1134)aaafs	p.K378fs	FLAD1_uc001fgd.2_Frame_Shift_Del_p.K378fs|FLAD1_uc001fge.2_Frame_Shift_Del_p.K281fs|FLAD1_uc001fgg.2_Frame_Shift_Del_p.K281fs|FLAD1_uc001fgh.1_Intron	NM_025207	NP_958800	Q8NFF5	FAD1_HUMAN	Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1), transcript variant 1, mRNA.	378					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	p.K378E(6)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTCTTTGGGGAAAAAGGTGGC	0.567													---	1067	---	---	11	---					
NES	10763	broad.mit.edu	37	1	156642804	156642804	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:156642804delG	uc001fpq.3	-	3	1309	c.1176delC	c.(1174-1176)cccfs	p.P392fs	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	392	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTGAGGTGTGGGGGGGATGG	0.597													---	1769	---	---	16	---					
PRCC	5546	broad.mit.edu	37	1	156761535	156761536	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:156761535_156761536insC	uc001fqa.3	+	3	1420_1421	c.1130_1131insC	c.(1129-1131)gtcfs	p.V377fs		NM_005973	NP_005964	Q92733	PRCC_HUMAN	Homo sapiens papillary renal cell carcinoma (translocation-associated) (PRCC), mRNA.	377					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	p.Q380fs*12(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGGCCCTGGTCCCCCCCCAGG	0.530			T	TFE3	papillary renal								---	835	---	---	18	---					
PVRL4	81607	broad.mit.edu	37	1	161059028	161059030	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:161059028_161059030delAGC	uc001fxo.2	-	0	356_358	c.57_59delGCT	c.(55-60)ctgcta>cta	p.19_20LL>L		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	19					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGCCAGCAGTAGCAGCAGCAGCA	0.567													---	1118	---	---	7	---					
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254156	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	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													---	871	---	---	12	---					
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:162326888_162326890delCAG	uc001gbv.2	+	7	1288_1290	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_uc010pkr.1_In_Frame_Del_p.Q301del|NOS1AP_uc001gbw.2_In_Frame_Del_p.Q301del|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	306	Poly-Gln.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611													---	462	---	---	15	---					
PAPPA2	60676	broad.mit.edu	37	1	176762724	176762724	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:176762724delC	uc001gkz.3	+	19	6213	c.5049delC	c.(5047-5049)atcfs	p.I1683fs	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1683	Sushi 5.				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						TGTGTGTAATCCCCCCCAGTG	0.468													---	1008	---	---	14	---					
GPR25	2848	broad.mit.edu	37	1	200842776	200842778	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:200842776_200842778delTGC	uc001gvn.1	+	0	611_613	c.611_613delTGC	c.(610-615)ttgctg>ttg	p.204_205LL>L		NM_005298	NP_005289	O00155	GPR25_HUMAN	Homo sapiens G protein-coupled receptor 25 (GPR25), mRNA.	204	Poly-Leu.					integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGCCTCAGCTTGCTGCTGCTGCT	0.724													---	205	---	---	19	---					
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:201843998_201844000delGAG	uc001gwz.3	+	21	2922_2924	c.2872_2874delGAG	c.(2872-2874)gagdel	p.E962del		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	962					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	p.E962D(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443													---	776	---	---	21	---					
SYT2	127833	broad.mit.edu	37	1	202573647	202573649	+	In_Frame_Del	DEL	TTC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:202573647_202573649delTTC	uc001gye.3	-	2	472_474	c.279_281delGAA	c.(277-282)aagaac>aac	p.K93del	SYT2_uc010pqb.2_In_Frame_Del_p.K93del|SYT2_uc009xaf.3_Intron	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	93					neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	p.N94S(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	ctccttcttgttcttcttcttct	0.532													---	833	---	---	7	---					
PPP1R15B	84919	broad.mit.edu	37	1	204380466	204380466	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:204380466delA	uc001hav.4	-	0	479	c.74delT	c.(73-75)ttcfs	p.F25fs		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15B (PPP1R15B), mRNA.	25					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TCGCCGAGGGAAAAAGGGTGG	0.622													---	895	---	---	8	---					
CR2	1380	broad.mit.edu	37	1	207642044	207642044	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:207642044delC	uc001hfw.3	+	2	737	c.618delC	c.(616-618)gtcfs	p.V206fs	CR2_uc001hfv.3_Frame_Shift_Del_p.V206fs|CR2_uc009xch.3_Frame_Shift_Del_p.V206fs|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGAGTGCTGTCCCCCCCACAT	0.398													---	1328	---	---	9	---					
CR1L	1379	broad.mit.edu	37	1	207867814	207867814	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:207867814delA	uc001hga.4	+	4	701	c.580delA	c.(580-582)aaafs	p.K194fs	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	194	Sushi 3.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAGCAGAGGGAAAAAGGTGTT	0.507													---	1634	---	---	7	---					
INTS7	25896	broad.mit.edu	37	1	212115191	212115193	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:212115191_212115193delTGC	uc001hiw.2	-	19	3085_3087	c.2862_2864delGCA	c.(2860-2865)cagcaa>caa	p.954_955QQ>Q	INTS7_uc001hix.2_In_Frame_Del_p.830_831QQ>Q|INTS7_uc009xdb.2_In_Frame_Del_p.934_935QQ>Q|INTS7_uc001hiy.2_In_Frame_Del_p.940_941QQ>Q|INTS7_uc010pta.2_In_Frame_Del_p.905_906QQ>Q	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	Homo sapiens integrator complex subunit 7 (INTS7), transcript variant 1, mRNA.	954	Gln-rich.				snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGCATTGCGTTGCTGCTGCTGCT	0.443													---	1373	---	---	13	---					
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:214557049_214557051delCCT	uc001hkk.2	-	12	2800_2802	c.2147_2149delAGG	c.(2146-2151)gaggct>gct	p.E716del	PTPN14_uc021piy.1_In_Frame_Del_p.E480del|PTPN14_uc010pty.2_In_Frame_Del_p.E617del	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	716	Poly-Glu.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.E716delE(2)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626													---	518	---	---	32	---					
PTPN14	5784	broad.mit.edu	37	1	214588042	214588042	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:214588042delT	uc001hkk.2	-	3	1025	c.372delA	c.(370-372)aaafs	p.K124fs	PTPN14_uc021piy.1_5'UTR|PTPN14_uc010pty.2_Frame_Shift_Del_p.K25fs	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	124	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CAAGCACATCTTTTTTGACTT	0.423													---	1428	---	---	9	---					
ACBD3	64746	broad.mit.edu	37	1	226352490	226352491	+	Splice_Site	INS	-	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:226352490_226352491insT	uc001hpy.3	-	3	616	c.569_splice	c.e3+1	p.R190_splice		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	Homo sapiens acyl-CoA binding domain containing 3 (ACBD3), mRNA.	190	Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CAAACTTCACCTTTTTTTTTCT	0.411													---	615	---	---	9	---					
MYCN	4613	broad.mit.edu	37	2	16086094	16086094	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:16086094delA	uc002rci.3	+	2	1570	c.1270delA	c.(1270-1272)aaafs	p.K424fs	MYCN_uc010yjr.2_Frame_Shift_Del_p.K424fs	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	424	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GGTCATTTTGAAAAAGGCCAC	0.547			A		neuroblastoma								---	1525	---	---	7	---					
SMC6	79677	broad.mit.edu	37	2	17898126	17898126	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:17898126delT	uc002rco.3	-	13	1524	c.1228delA	c.(1228-1230)atafs	p.I410fs	SMC6_uc010exo.3_Frame_Shift_Del_p.I410fs|SMC6_uc002rcn.3_Frame_Shift_Del_p.I410fs|SMC6_uc002rcp.1_Frame_Shift_Del_p.I436fs|SMC6_uc002rcq.2_Frame_Shift_Del_p.I436fs|SMC6_uc002rcr.1_Frame_Shift_Del_p.I410fs	NM_001142286	NP_078900	Q96SB8	SMC6_HUMAN	Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA.	410					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCAAGATATTTTTTTTTGT	0.343													---	314	---	---	9	---					
APOB	338	broad.mit.edu	37	2	21228602	21228602	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:21228602delT	uc002red.3	-	25	11266	c.11138delA	c.(11137-11139)aacfs	p.N3713fs		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3713					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCCATTGGGGTTTTTGGTGTA	0.398													---	1001	---	---	8	---					
KIF3C	3797	broad.mit.edu	37	2	26203464	26203466	+	In_Frame_Del	DEL	GTT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:26203464_26203466delGTT	uc002rgu.2	-	0	1978_1980	c.1321_1323delAAC	c.(1321-1323)aacdel	p.N441del	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_In_Frame_Del_p.N441del	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	441	Poly-Asn.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGGCGGTGGTTGTTGTTGTTG	0.621													---	1198	---	---	8	---					
DHX57	90957	broad.mit.edu	37	2	39095411	39095413	+	In_Frame_Del	DEL	CCA	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:39095411_39095413delCCA	uc002rrf.3	-	1	234_236	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_uc002rre.3_5'Flank|DHX57_uc002rrg.3_In_Frame_Del_p.45_46GG>G	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	45	Gly-rich.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532													---	629	---	---	17	---					
LRPPRC	10128	broad.mit.edu	37	2	44145165	44145165	+	Splice_Site	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:44145165delT	uc002rtr.2	-	29	3206	c.3148_splice	c.e29+1	p.G1050_splice	LRPPRC_uc010yob.1_Splice_Site_p.G950_splice	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	1050					mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTGCTTGCCTTTTTTTTGGT	0.453													---	221	---	---	8	---					
USP34	9736	broad.mit.edu	37	2	61575023	61575025	+	In_Frame_Del	DEL	TGG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	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													---	603	---	---	15	---					
GMCL1	64395	broad.mit.edu	37	2	70074753	70074753	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:70074753delA	uc002sfu.3	+	6	1044	c.837delA	c.(835-837)ctafs	p.L279fs		NM_178439	NP_848526	Q96IK5	GMCL1_HUMAN	Homo sapiens germ cell-less homolog 1 (Drosophila) (GMCL1), mRNA.	279					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						ACACTGCTCTAAAAAAGGTAC	0.348													---	1441	---	---	7	---					
ATP6V1B1	525	broad.mit.edu	37	2	71191572	71191573	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:71191572_71191573insC	uc002shj.3	+	11	1235_1236	c.1148_1149insC	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_uc010fdx.3_Frame_Shift_Ins_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATCA	0.545											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	773	---	---	9	---					
RAB11FIP5	26056	broad.mit.edu	37	2	73315337	73315339	+	In_Frame_Del	DEL	TGG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:73315337_73315339delTGG	uc002siu.4	-	2	1648_1650	c.1407_1409delCCA	c.(1405-1410)caccaa>caa	p.H469del	RAB11FIP5_uc002sit.4_In_Frame_Del_p.H391del	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	469					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						ACTTAGGCCTTGGTGGTGGTGGT	0.635													---	1331	---	---	8	---					
SLC4A5	57835	broad.mit.edu	37	2	74451994	74451994	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:74451994delT	uc002sko.1	-	23	3269	c.3267delA	c.(3265-3267)aaafs	p.K1089fs	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Frame_Shift_Del_p.K1073fs|SLC4A5_uc010ffc.1_Frame_Shift_Del_p.K992fs|SLC4A5_uc002skp.1_Frame_Shift_Del_p.K971fs|SLC4A5_uc002sks.1_Frame_Shift_Del_p.K981fs	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	1089						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CGTGGGCCCCTTTTTTTCTCT	0.517													---	1375	---	---	9	---					
TGOLN2	10618	broad.mit.edu	37	2	85554579	85554579	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:85554579delT	uc021vjw.1	-	1	610	c.276delA	c.(274-276)aaafs	p.K92fs	TGOLN2_uc002spb.3_Frame_Shift_Del_p.K92fs|TGOLN2_uc002soz.3_Frame_Shift_Del_p.K92fs|TGOLN2_uc021vjx.1_Frame_Shift_Del_p.K92fs|TGOLN2_uc002spa.3_Intron|TGOLN2_uc002spc.2_Frame_Shift_Del_p.K92fs	NM_001206840	NP_001193769	O43493	TGON2_HUMAN	Homo sapiens trans-golgi network protein 2 (TGOLN2), transcript variant 2, mRNA.	92	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										TGGAGCTGTCTTTTTGGGTCT	0.572													---	3912	---	---	12	---					
ZNF514	84874	broad.mit.edu	37	2	95815034	95815035	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:95815034_95815035insT	uc002sud.1	-	4	1785_1786	c.1414_1415insA	c.(1414-1416)accfs	p.T472fs	ZNF514_uc002sue.1_Frame_Shift_Ins_p.T399fs	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	Homo sapiens zinc finger protein 514 (ZNF514), mRNA.	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						AATTTATAGGGTTTTTTTTCCA	0.396													---	1003	---	---	9	---					
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:98427639delT	uc002syh.4	-	17	2149	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	640						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393													---	1961	---	---	14	---					
EIF5B	9669	broad.mit.edu	37	2	99977775	99977777	+	In_Frame_Del	DEL	TGA	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:99977775_99977777delTGA	uc002tab.3	+	3	595_597	c.411_413delTGA	c.(409-414)agtgat>agt	p.D142del		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	142	Poly-Asp.				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	p.D142N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTCTGGGAGTGATGATGATGAT	0.345													---	656	---	---	7	---					
REV1	51455	broad.mit.edu	37	2	100055102	100055102	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:100055102delT	uc002tad.3	-	5	1386	c.1174delA	c.(1174-1176)atgfs	p.M392fs	REV1_uc002tac.3_Frame_Shift_Del_p.M392fs|REV1_uc002tae.1_Frame_Shift_Del_p.M371fs	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	392					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTGTTTTCATTTTTTTTAAC	0.348								Direct reversal of damage					---	895	---	---	11	---					
NPHP1	4867	broad.mit.edu	37	2	110922711	110922713	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:110922711_110922713delCTT	uc002tfn.4	-	6	738_740	c.644_646delAAG	c.(643-648)gaaggc>ggc	p.E215del	NPHP1_uc002tfm.4_In_Frame_Del_p.E215del|NPHP1_uc002tfl.4_In_Frame_Del_p.E215del|NPHP1_uc002tfo.4_In_Frame_Del_p.E153del|NPHP1_uc010ywx.2_In_Frame_Del_p.E215del|NPHP1_uc010fjv.1_In_Frame_Del_p.E215del	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	215	Glu-rich.				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						GACTCTTGGCCTTCTTCTTCTTC	0.404													---	1070	---	---	8	---					
RGPD5	84220	broad.mit.edu	37	2	113181886	113181887	+	Splice_Site	INS	-	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:113181886_113181887insA	uc002ths.2	-	2	265	c.73_splice	c.e2-1	p.K25_splice	RGPD5_uc010fkk.2_Splice_Site|RGPD5_uc002tht.1_5'Flank|RGPD5_uc010yxm.2_Splice_Site_p.K25_splice	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	25					intracellular transport	cytoplasm	binding			central_nervous_system(1)	1						CATTGACTTCTAAAAAAAAATT	0.252													---	365	---	---	9	---					
SLC20A1	6574	broad.mit.edu	37	2	113416607	113416608	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:113416607_113416608delAG	uc002tib.3	+	6	1523_1524	c.984_985delAG	c.(982-987)ccagagfs	p.P328fs	SLC20A1_uc002tic.1_Frame_Shift_Del_p.P140fs	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	328					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	p.R332fs*14(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGGAAGCTCCAGAGAGAGAGAG	0.515													---	630	---	---	12	---					
CCDC74A	90557	broad.mit.edu	37	2	132290249	132290249	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:132290249delC	uc002tta.3	+	4	823	c.771delC	c.(769-771)cacfs	p.H257fs	CCDC74A_uc002ttb.3_Frame_Shift_Del_p.H191fs|CCDC74A_uc021vpq.1_Intron|CCDC74A_uc021vpr.1_Intron	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	257										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CGGGGGCACACCCCCCAATGA	0.602													---	1297	---	---	7	---					
ERMN	57471	broad.mit.edu	37	2	158178062	158178064	+	In_Frame_Del	DEL	ATC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:158178062_158178064delATC	uc002tzi.3	-	3	768_770	c.613_615delGAT	c.(613-615)gatdel	p.D205del	ERMN_uc010zcj.2_In_Frame_Del_p.D86del|ERMN_uc002tzh.3_In_Frame_Del_p.D192del|ERMN_uc010zck.2_In_Frame_Del_p.D172del	NM_001009959	NP_065762	Q8TAM6	ERMIN_HUMAN	Homo sapiens ermin, ERM-like protein (ERMN), transcript variant 1, mRNA.	192						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						tattgcaattatcatcatcatca	0.365													---	901	---	---	8	---					
XIRP2	129446	broad.mit.edu	37	2	168104998	168105000	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:168104998_168105000delCCT	uc002udx.3	+	8	7185_7187	c.7096_7098delCCT	c.(7096-7098)cctdel	p.P2370del	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_In_Frame_Del_p.P2195del|XIRP2_uc010fpq.3_In_Frame_Del_p.P2148del|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2195					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTTCTGCCGCCTCCTCCTCCTC	0.468													---	988	---	---	7	---					
SSB	6741	broad.mit.edu	37	2	170665008	170665008	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:170665008delA	uc002ufk.3	+	6	745	c.571delA	c.(571-573)aaafs	p.K191fs	SSB_uc002ufm.3_Frame_Shift_Del_p.K191fs	NM_003142	NP_003133	P05455	LA_HUMAN	Homo sapiens Sjogren syndrome antigen B (autoantigen La) (SSB), mRNA.	191					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TTACTTTGCCAAAAAAAATGA	0.323													---	555	---	---	8	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:171240258_171240259insC	uc002ufy.3	+	11	1367_1368	c.1224_1225insC	c.(1222-1227)aatcccfs	p.N408fs	MYO3B_uc002ufv.3_Frame_Shift_Ins_p.N395fs|MYO3B_uc010fqb.1_Frame_Shift_Ins_p.N408fs|MYO3B_uc002ufz.3_Frame_Shift_Ins_p.N408fs|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465													---	778	---	---	9	---					
CYP20A1	57404	broad.mit.edu	37	2	204150380	204150380	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:204150380delA	uc010zif.2	+	8	1542	c.920delA	c.(919-921)caafs	p.Q307fs	CYP20A1_uc002uzv.4_Frame_Shift_Del_p.Q299fs|CYP20A1_uc002uzx.4_Frame_Shift_Del_p.Q197fs|CYP20A1_uc002uzy.4_Frame_Shift_Del_p.Q197fs|CYP20A1_uc002uzw.4_Non-coding_Transcript|CYP20A1_uc010ftw.3_Frame_Shift_Del_p.Q29fs	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	Homo sapiens cytochrome P450, family 20, subfamily A, polypeptide 1 (CYP20A1), mRNA.	299						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAGAAGTTCAAAAAAAATTA	0.348													---	620	---	---	7	---					
ZDBF2	57683	broad.mit.edu	37	2	207174869	207174869	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:207174869delA	uc002vbp.2	+	4	5867	c.5617delA	c.(5617-5619)aaafs	p.K1873fs		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1873							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTCGAAGGGGAAAAAAAAGGT	0.413													---	282	---	---	9	---					
KANSL1L	151050	broad.mit.edu	37	2	210887680	210887680	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:210887680delT	uc002vds.3	-	14	3165	c.2957delA	c.(2956-2958)aatfs	p.N986fs	KANSL1L_uc002vdt.3_Frame_Shift_Del_p.N944fs	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	Homo sapiens chromosome 2 open reading frame 67 (C2orf67), mRNA.	986																	CTGTCACCTATTTTTTTTAAC	0.418													---	271	---	---	10	---					
SLC4A3	6508	broad.mit.edu	37	2	220502413	220502413	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:220502413delC	uc002vmo.4	+	16	2936	c.2727delC	c.(2725-2727)ggcfs	p.G909fs	SLC4A3_uc002vmp.4_Frame_Shift_Del_p.G882fs|SLC4A3_uc010fwm.3_Frame_Shift_Del_p.G432fs|SLC4A3_uc010fwn.1_Frame_Shift_Del_p.G391fs	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	882	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACCGAGGGCCCCCCCAGCC	0.642													---	550	---	---	7	---					
COL4A4	1286	broad.mit.edu	37	2	227979396	227979396	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:227979396delT	uc021vxr.1	-	6	607	c.506delA	c.(505-507)aagfs	p.K169fs	COL4A4_uc021vxs.1_Frame_Shift_Del_p.K169fs	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	169	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTTTTCTCCCTTTTCCCCAGG	0.299													---	952	---	---	7	---					
GIGYF2	26058	broad.mit.edu	37	2	233620985	233620987	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:233620985_233620987delGAG	uc002vtj.4	+	6	587_589	c.320_322delGAG	c.(319-324)cgagga>cga	p.G111del	GIGYF2_uc010zmj.1_In_Frame_Del_p.G111del|GIGYF2_uc002vtg.2_In_Frame_Del_p.G111del|GIGYF2_uc002vti.4_In_Frame_Del_p.G111del|GIGYF2_uc002vtk.4_In_Frame_Del_p.G111del|GIGYF2_uc002vth.4_In_Frame_Del_p.G111del|GIGYF2_uc010zmk.2_Non-coding_Transcript	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	111	Poly-Gly.				cell death		protein binding	p.G108R(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTGACAGGACGAGGAGGAGGAGG	0.424													---	618	---	---	11	---					
SRGAP3	9901	broad.mit.edu	37	3	9027284	9027286	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:9027284_9027286delGCT	uc003brf.1	-	21	3893_3895	c.3217_3219delAGC	c.(3217-3219)agcdel	p.S1074del	SRGAP3_uc003brg.1_In_Frame_Del_p.S1050del	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	1074					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCACGCCCGAGCTGCTGCTGCTG	0.739			T	RAF1	pilocytic astrocytoma								---	314	---	---	9	---					
TMEM40	55287	broad.mit.edu	37	3	12790198	12790200	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:12790198_12790200delGAG	uc011auv.1	-	2	380_382	c.213_215delCTC	c.(211-216)tcctct>tct	p.71_72SS>S	TMEM40_uc003bxg.1_In_Frame_Del_p.55_56SS>S|TMEM40_uc003bxh.1_In_Frame_Del_p.55_56SS>S	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	Homo sapiens transmembrane protein 40 (TMEM40), mRNA.	55	Ser-rich.					integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						tgaggaggaagaggaggaggagg	0.419													---	1257	---	---	10	---					
SGOL1	151648	broad.mit.edu	37	3	20216050	20216050	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:20216050delT	uc003cbu.3	-	5	1128	c.973delA	c.(973-975)atgfs	p.M325fs	SGOL1_uc003cbw.3_Intron|SGOL1_uc003cbv.3_Intron|SGOL1_uc003cbt.3_Intron|SGOL1_uc010hfa.3_Intron|SGOL1_uc003cbs.3_Frame_Shift_Del_p.M325fs|SGOL1_uc003cbr.3_Intron|SGOL1_uc003ccc.3_Intron|SGOL1_uc021wtx.1_Intron|SGOL1_uc021wty.1_Intron|SGOL1_uc003ccb.3_Intron|SGOL1_uc003cca.3_Frame_Shift_Del_p.M325fs|SGOL1_uc003cby.3_Intron|SGOL1_uc003cbx.3_Intron|SGOL1_uc003cbz.3_Frame_Shift_Del_p.M325fs	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	325					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						GATTTGTGCATTTTTTTTTGG	0.318													---	301	---	---	8	---					
CLASP2	23122	broad.mit.edu	37	3	33602361	33602361	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:33602361delT	uc021wvc.1	-	27	3104	c.2893delA	c.(2893-2895)atgfs	p.M965fs	CLASP2_uc003cfs.3_Frame_Shift_Del_p.M164fs|CLASP2_uc021wva.1_Frame_Shift_Del_p.M39fs|CLASP2_uc021wvb.1_Frame_Shift_Del_p.M744fs|CLASP2_uc011axt.1_Frame_Shift_Del_p.M557fs	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	966										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCAGCACCCATTTTTTTTAGT	0.343													---	1006	---	---	19	---					
PDCD6IP	10015	broad.mit.edu	37	3	33866811	33866811	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:33866811delT	uc003cfx.3	+	4	750	c.595delT	c.(595-597)tttfs	p.F199fs	PDCD6IP_uc011axv.2_Frame_Shift_Del_p.F199fs|PDCD6IP_uc003cfy.3_Frame_Shift_Del_p.F199fs	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	Homo sapiens programmed cell death 6 interacting protein (PDCD6IP), transcript variant 1, mRNA.	199	BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TCAAGAAGTATTTTTTTTAAA	0.368													---	761	---	---	7	---					
NKTR	4820	broad.mit.edu	37	3	42680269	42680271	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:42680269_42680271delGAG	uc003clo.3	+	12	3220_3222	c.3073_3075delGAG	c.(3073-3075)gagdel	p.E1029del	NKTR_uc003clm.1_In_Frame_Del_p.E776del|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_In_Frame_Del_p.E776del|NKTR_uc003clq.1_In_Frame_Del_p.E919del|NKTR_uc003clr.1_In_Frame_Del_p.E776del|NKTR_uc003cls.3_In_Frame_Del_p.E729del	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	1029					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ATTTGGTGAAGAGGAGGAGGAGG	0.355													---	678	---	---	8	---					
HHATL	57467	broad.mit.edu	37	3	42739670	42739672	+	In_Frame_Del	DEL	GAA	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:42739670_42739672delGAA	uc003clw.3	-	6	802_804	c.655_657delTTC	c.(655-657)ttcdel	p.F219del	HHATL_uc003clx.3_In_Frame_Del_p.F219del	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	219					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TGATGGGCCCGAAGAAGAAGAAG	0.552													---	847	---	---	10	---					
CCR3	1232	broad.mit.edu	37	3	46306948	46306948	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:46306948delT	uc003cpl.2	+	2	1429	c.398delT	c.(397-399)gttfs	p.V133fs	CCR3_uc003cpg.2_Frame_Shift_Del_p.V100fs|CCR3_uc003cpk.2_Frame_Shift_Del_p.V121fs|CCR3_uc003cpi.2_Frame_Shift_Del_p.V100fs|CCR3_uc010hjb.2_Frame_Shift_Del_p.V118fs|CCR3_uc003cpj.2_Frame_Shift_Del_p.V100fs|CCR3_uc021wwz.1_Frame_Shift_Del_p.V100fs	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	100					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CATAACTGGGTTTTTGGCCAT	0.488													---	2127	---	---	10	---					
CCR3	1232	broad.mit.edu	37	3	46307343	46307343	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:46307343delA	uc003cpl.2	+	2	1824	c.793delA	c.(793-795)aaafs	p.K265fs	CCR3_uc003cpg.2_Frame_Shift_Del_p.K232fs|CCR3_uc003cpk.2_Frame_Shift_Del_p.K253fs|CCR3_uc003cpi.2_Frame_Shift_Del_p.K232fs|CCR3_uc010hjb.2_Frame_Shift_Del_p.K250fs|CCR3_uc003cpj.2_Frame_Shift_Del_p.K232fs|CCR3_uc021wwz.1_Frame_Shift_Del_p.K232fs	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	232					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GTGCCCCAGTAAAAAAAAGTA	0.468													---	466	---	---	10	---					
SETD2	29072	broad.mit.edu	37	3	47103755	47103756	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:47103755_47103756delTC	uc003cqv.3	-	14	6477_6478	c.6391_6392delGA	c.(6391-6393)gacfs	p.D2131fs	SETD2_uc003cqs.3_Frame_Shift_Del_p.D2064fs|SETD2_uc003cqt.1_Non-coding_Transcript	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2064					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTTGTCTGGGTCTCTCTCTCTT	0.485			"""N, F, S, Mis"""		clear cell renal carcinoma								---	2174	---	---	7	---					
USP4	7375	broad.mit.edu	37	3	49321969	49321971	+	In_Frame_Del	DEL	TCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:49321969_49321971delTCT	uc003cwq.2	-	17	2397_2399	c.2318_2320delAGA	c.(2317-2322)aagacc>acc	p.K773del	USP4_uc003cwp.2_In_Frame_Del_p.K503del|USP4_uc003cwr.2_In_Frame_Del_p.K726del	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	773					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCCACTGTGGTCTTCTTCTTCTT	0.532													---	948	---	---	13	---					
TCTA	6988	broad.mit.edu	37	3	49449979	49449981	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:49449979_49449981delGCT	uc003cwv.4	+	0	341_343	c.120_122delGCT	c.(118-123)aagctg>aag	p.L44del	RHOA_uc010hku.3_5'Flank|RHOA_uc003cwu.3_5'Flank	NM_022171	NP_071503	P57738	TCTA_HUMAN	Homo sapiens T-cell leukemia translocation altered gene (TCTA), mRNA.	44						integral to membrane				large_intestine(4)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCTCTTCAAGCTGCTGCTGCTG	0.645													---	1213	---	---	7	---					
DAG1	1605	broad.mit.edu	37	3	49569266	49569268	+	In_Frame_Del	DEL	CCA	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:49569266_49569268delCCA	uc021wxz.1	+	2	1791_1793	c.1322_1324delCCA	c.(1321-1326)tccacc>tcc	p.T446del	DAG1_uc021wya.1_In_Frame_Del_p.T446del|DAG1_uc021wyb.1_In_Frame_Del_p.T446del|DAG1_uc021wyc.1_In_Frame_Del_p.T446del|DAG1_uc021wyd.1_In_Frame_Del_p.T446del|DAG1_uc021wye.1_In_Frame_Del_p.T446del|DAG1_uc021wyf.1_In_Frame_Del_p.T446del|DAG1_uc021wyg.1_In_Frame_Del_p.T446del|DAG1_uc021wyh.1_In_Frame_Del_p.T446del|DAG1_uc021wyi.1_In_Frame_Del_p.T446del|DAG1_uc021wyj.1_In_Frame_Del_p.T446del|DAG1_uc021wyk.1_In_Frame_Del_p.T446del|DAG1_uc003cxc.4_In_Frame_Del_p.T446del	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	446	Mucin-like domain.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCAACTGACTCCACCACCACCAC	0.581													---	694	---	---	9	---					
RASSF1	11186	broad.mit.edu	37	3	50368093	50368095	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:50368093_50368095delCTC	uc003dad.1	-	5	1083_1085	c.952_954delGAG	c.(952-954)gagdel	p.E318del	TUSC2_uc003czy.1_5'Flank|TUSC2_uc003czz.1_5'Flank|RASSF1_uc003daa.1_In_Frame_Del_p.E163del|RASSF1_uc003dab.1_In_Frame_Del_p.E244del|RASSF1_uc003dac.2_In_Frame_Del_p.E163del|RASSF1_uc003dae.1_In_Frame_Del_p.E314del|RASSF1_uc003daf.1_In_Frame_Del_p.E163del|RASSF1_uc010hlk.1_Non-coding_Transcript	NM_170714	NP_733830	Q9NS23	RASF1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 1 (RASSF1), transcript variant D, mRNA.	318	MOAP1-binding.|SARAH.				Ras protein signal transduction|cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein N-terminus binding|protein binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGCGGAGGTGCTCCTCCTCCTCC	0.591													---	713	---	---	8	---					
RBM15B	29890	broad.mit.edu	37	3	51430822	51430824	+	In_Frame_Del	DEL	CCA	-	-	rs147738916	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:51430822_51430824delCCA	uc003dbd.3	+	0	2124_2126	c.1992_1994delCCA	c.(1990-1995)ggccac>ggc	p.H670del		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA.	670	His-rich.				RNA splicing|interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGAACGGGGCCACCACCACCAC	0.635													---	264	---	---	7	---					
TLR9	54106	broad.mit.edu	37	3	52265509	52265509	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:52265509delT	uc003ddd.3	-	3	480	c.329delA	c.(328-330)aagfs	p.K110fs	TLR9_uc003ddb.3_5'Flank|TLR9_uc003ddc.1_5'Flank	NM_007284	NP_009215	Q9NR96	TLR9_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 2 (Drosophila) (TWF2), mRNA.	0					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TCCAAACTCCTTTTTCACTGT	0.602											OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	1655	---	---	7	---					
PDE12	201626	broad.mit.edu	37	3	57542768	57542770	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:57542768_57542770delCTT	uc003diw.4	+	0	788_790	c.662_664delCTT	c.(661-666)ccttct>cct	p.S224del	PDE12_uc003div.3_In_Frame_Del_p.S224del	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	Homo sapiens phosphodiesterase 12 (PDE12), mRNA.	224							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CCCTCCTCACCTTCTTCTTCTTG	0.616													---	1438	---	---	11	---					
LRIG1	26018	broad.mit.edu	37	3	66436625	66436627	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:66436625_66436627delGCT	uc003dmx.3	-	12	1581_1583	c.1567_1569delAGC	c.(1567-1569)agcdel	p.S524del	SLC25A26_uc011bft.2_Non-coding_Transcript|LRIG1_uc011bfu.2_In_Frame_Del_p.S144del|LRIG1_uc003dmw.3_In_Frame_Del_p.S190del|LRIG1_uc010hnz.3_In_Frame_Del_p.S240del|LRIG1_uc010hoa.3_In_Frame_Del_p.S548del	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	524	Ig-like C2-type 1.|Poly-Ser.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547													---	2441	---	---	10	---					
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:87027857_87027859delCTC	uc003dqn.3	-	1	584_586	c.220_222delGAG	c.(220-222)gagdel	p.E74del		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502													---	359	---	---	26	---					
CPOX	1371	broad.mit.edu	37	3	98311987	98311989	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:98311987_98311989delTCC	uc003dsx.3	-	0	467_469	c.360_362delGGA	c.(358-363)gaggat>gat	p.E120del	CPOX_uc011bgz.2_In_Frame_Del_p.E120del	NM_000097	NP_000088	P36551	HEM6_HUMAN	Homo sapiens coproporphyrinogen oxidase (CPOX), mRNA.	120						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GGCCAGCTCATCCTCCTCCTCCT	0.695													---	233	---	---	7	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:100148586_100148588delGAT	uc003dtx.4	+	1	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del		NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	Homo sapiens leukemia NUP98 fusion partner 1 (LNP1), mRNA.	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													---	1975	---	---	23	---					
DPPA4	55211	broad.mit.edu	37	3	109049606	109049606	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:109049606delT	uc003dxq.4	-	4	499	c.444delA	c.(442-444)aaafs	p.K148fs	DPPA4_uc011bho.2_Intron|DPPA4_uc011bhp.1_Frame_Shift_Del_p.K148fs	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	148						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CCACCTTTAATTTTTTTTGCA	0.413													---	856	---	---	9	---					
NME9	347736	broad.mit.edu	37	3	138023752	138023752	+	Frame_Shift_Del	DEL	G	-	-	rs80092642	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:138023752delG	uc003esg.3	-	8	782	c.754delC	c.(754-756)cgtfs	p.R252fs	NME9_uc003esd.1_Intron|NME9_uc010huf.1_Frame_Shift_Del_p.R167fs|NME9_uc003ese.1_Frame_Shift_Del_p.R191fs	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	Homo sapiens NME gene family member 9 (NME9), mRNA.	252	NDK.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell redox homeostasis	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TTGGGGTCACGGGGGCCCATG	0.587													---	1237	---	---	7	---					
PLOD2	5352	broad.mit.edu	37	3	145795694	145795694	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:145795694delT	uc003evr.1	-	13	2024	c.1518delA	c.(1516-1518)aaafs	p.K506fs	PLOD2_uc003evq.1_Frame_Shift_Del_p.K166fs|PLOD2_uc011bnm.1_Frame_Shift_Del_p.K451fs|PLOD2_uc003evs.1_Intron	NM_182943	NP_891988	O00469	PLOD2_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2), transcript variant 1, mRNA.	500					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TAGGGGAGTCTTTTTCCCTTT	0.338													---	1724	---	---	8	---					
CP	1356	broad.mit.edu	37	3	148903053	148903053	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:148903053delT	uc003ewy.4	-	11	2511	c.2258delA	c.(2257-2259)aagfs	p.K753fs	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Frame_Shift_Del_p.K534fs|CP_uc003ewz.3_Frame_Shift_Del_p.K753fs	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	753	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ATGCAGCTCCTTTTCCCACTC	0.443													---	2150	---	---	7	---					
WWTR1	25937	broad.mit.edu	37	3	149260194	149260196	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:149260194_149260196delCTG	uc003exf.3	-	3	1037_1039	c.697_699delCAG	c.(697-699)cagdel	p.Q233del	WWTR1_uc003exe.3_In_Frame_Del_p.Q233del|WWTR1_uc021xfm.1_In_Frame_Del_p.Q233del|WWTR1_uc003exh.3_In_Frame_Del_p.Q233del	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	Homo sapiens WW domain containing transcription regulator 1 (WWTR1), transcript variant 1, mRNA.	233	Gln-rich.				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma								---	542	---	---	9	---					
FAM194A	131831	broad.mit.edu	37	3	150421591	150421593	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:150421591_150421593delTCC	uc003eyg.3	-	0	150_152	c.93_95delGGA	c.(91-96)gaggaa>gaa	p.31_32EE>E	FAM194A_uc003eyh.3_5'UTR	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	31	Glu-rich.									NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ctccacctcttcctcctcctcct	0.635													---	190	---	---	9	---					
MED12L	116931	broad.mit.edu	37	3	151112598	151112600	+	In_Frame_Del	DEL	GCA	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:151112598_151112600delGCA	uc003eyp.3	+	36	5787_5789	c.5658_5660delGCA	c.(5656-5661)ctgcag>ctg	p.Q1892del	MED12L_uc011bnz.2_In_Frame_Del_p.Q1752del	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1892	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				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)			TGAAGCTTCTGCAGCAGCAGCAG	0.532													---	816	---	---	7	---					
GOLIM4	27333	broad.mit.edu	37	3	167747642	167747644	+	In_Frame_Del	DEL	CTG	-	-	rs61743912	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:167747642_167747644delCTG	uc011bpe.1	-	9	1701_1703	c.1357_1359delCAG	c.(1357-1359)cagdel	p.Q453del	GOLIM4_uc003ffe.2_In_Frame_Del_p.Q453del|GOLIM4_uc011bpf.1_In_Frame_Del_p.Q425del|GOLIM4_uc011bpg.1_In_Frame_Del_p.Q425del	NM_014498	NP_055313	O00461	GOLI4_HUMAN	Homo sapiens golgi integral membrane protein 4 (GOLIM4), mRNA.	453	Gln-rich.|Glu-rich.				transport	Golgi cisterna membrane|Golgi lumen|cis-Golgi network|endocytic vesicle|endosome membrane|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTTGCCACctgctgctgctgc	0.640													---	332	---	---	10	---					
FETUB	26998	broad.mit.edu	37	3	186370137	186370137	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:186370137delC	uc010hyq.3	+	7	1127	c.866delC	c.(865-867)accfs	p.T289fs	FETUB_uc011brz.2_Frame_Shift_Del_p.T141fs|FETUB_uc003fqn.3_Frame_Shift_Del_p.T289fs|FETUB_uc010hyr.3_Frame_Shift_Del_p.T252fs|FETUB_uc010hys.3_Frame_Shift_Del_p.T141fs|FETUB_uc003fqp.4_Frame_Shift_Del_p.T224fs	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	289						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAGAAAAACACCCCCCCAACA	0.498													---	1601	---	---	7	---					
ATP13A3	79572	broad.mit.edu	37	3	194181471	194181473	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:194181471_194181473delGAG	uc003fty.4	-	2	541_543	c.139_141delCTC	c.(139-141)ctcdel	p.L47del		NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	47					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCATCCAATAGAGGAGGAGGAGG	0.463													---	1072	---	---	8	---					
PDE6B	5158	broad.mit.edu	37	4	661763	661765	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:661763_661765delAGG	uc003gap.3	+	20	2524_2526	c.2471_2473delAGG	c.(2470-2475)aaggag>aag	p.E828del	PDE6B_uc003gao.4_In_Frame_Del_p.E828del|PDE6B_uc011buy.2_In_Frame_Del_p.E549del|PDE6B_uc011buz.2_In_Frame_Del_p.E260del	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	828					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CTGGAGGAGAAGGAGGAGGAGGA	0.562													---	1058	---	---	17	---					
RGS12	6002	broad.mit.edu	37	4	3430398	3430399	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:3430398_3430399insA	uc003ggw.3	+	15	4429_4430	c.3525_3526insA	c.(3523-3528)gggaaafs	p.G1175fs	RGS12_uc003ggv.3_Frame_Shift_Ins_p.G1175fs|RGS12_uc003ggy.1_Intron|RGS12_uc003ggz.3_Frame_Shift_Ins_p.G527fs|RGS12_uc011bvs.2_Intron|RGS12_uc003gha.3_Frame_Shift_Ins_p.G517fs|RGS12_uc010icv.3_Frame_Shift_Ins_p.G374fs	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1175						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAAAGATTGGGAAAAAAAAATA	0.332													---	508	---	---	15	---					
HGFAC	3083	broad.mit.edu	37	4	3443798	3443800	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:3443798_3443800delCTG	uc003ghc.3	+	0	73_75	c.70_72delCTG	c.(70-72)ctgdel	p.L29del	HGFAC_uc010icw.3_In_Frame_Del_p.L29del	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	29					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTCCTCCTCCTGCTGCTGCTGC	0.714													---	288	---	---	7	---					
PI4K2B	55300	broad.mit.edu	37	4	25278792	25278792	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:25278792delT	uc003grk.2	+	9	1562	c.1429delT	c.(1429-1431)tttfs	p.F477fs	PI4K2B_uc011bxs.2_Frame_Shift_Del_p.F381fs	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 beta (PI4K2B), mRNA.	477						cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				CAGGAAGCCATTTTTTTCCTC	0.393													---	712	---	---	7	---					
UGDH	7358	broad.mit.edu	37	4	39515752	39515753	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:39515752_39515753insA	uc003guk.2	-	2	537_538	c.214_215insT	c.(214-216)tctfs	p.S72fs	UGDH_uc011byp.2_5'UTR|UGDH_uc003gul.2_Frame_Shift_Ins_p.S72fs	NM_003359	NP_001171630	O60701	UGDH_HUMAN	Homo sapiens UDP-glucose 6-dehydrogenase (UGDH), transcript variant 1, mRNA.	72					UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycosaminoglycan biosynthetic process|xenobiotic metabolic process	cytosol	NAD binding|UDP-glucose 6-dehydrogenase activity|electron carrier activity	p.S72fs*18(2)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	AATATTGGTAGAAAAAAAAAGA	0.297													---	951	---	---	22	---					
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:46060358delA	uc003gxb.3	-	6	944	c.792delT	c.(790-792)tttfs	p.F264fs		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	264					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.F264fs*3(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TGCTCAGGTCAAAAAAAATTG	0.294													---	612	---	---	13	---					
YTHDC1	91746	broad.mit.edu	37	4	69202891	69202893	+	In_Frame_Del	DEL	TCC	-	-	rs141105019		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:69202891_69202893delTCC	uc003hdx.3	-	3	1088_1090	c.735_737delGGA	c.(733-738)gaggaa>gaa	p.245_246EE>E	YTHDC1_uc003hdy.3_In_Frame_Del_p.245_246EE>E	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	245	Glu-rich.							p.E245E(2)|p.E246E(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ttcttcttcttcctcctcctcct	0.473													---	409	---	---	7	---					
UTP3	57050	broad.mit.edu	37	4	71554620	71554622	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:71554620_71554622delGAG	uc003hfo.3	+	0	425_427	c.226_228delGAG	c.(226-228)gagdel	p.E81del		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	Homo sapiens UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) (UTP3), mRNA.	81	Glu-rich.				brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ggaggatggcgaggaggaggagg	0.567													---	376	---	---	14	---					
MOB1B	92597	broad.mit.edu	37	4	71844995	71844995	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:71844995delT	uc011cba.2	+	5	869	c.575delT	c.(574-576)attfs	p.I192fs	MOB1B_uc003hfw.3_Frame_Shift_Del_p.I187fs	NM_001244766	NP_001231695	Q7L9L4	MOL1A_HUMAN	Homo sapiens MOB kinase activator 1B (MOB1B), transcript variant 1, mRNA.	187					hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding										AAGCACTTTATTTTTTTTGTC	0.398													---	896	---	---	10	---					
PRDM8	56978	broad.mit.edu	37	4	81123250	81123252	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	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)	---	377	---	---	10	---					
SEC31A	22872	broad.mit.edu	37	4	83745800	83745800	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:83745800delT	uc003hnh.3	-	24	3499	c.3319delA	c.(3319-3321)attfs	p.I1107fs	SEC31A_uc003hnd.3_Frame_Shift_Del_p.I276fs|SEC31A_uc003hne.3_Frame_Shift_Del_p.I856fs|SEC31A_uc011ccl.2_Frame_Shift_Del_p.I1053fs|SEC31A_uc003hnl.3_Frame_Shift_Del_p.I954fs|SEC31A_uc003hng.3_Frame_Shift_Del_p.I1092fs|SEC31A_uc011ccm.2_Frame_Shift_Del_p.I1087fs|SEC31A_uc003hni.3_Frame_Shift_Del_p.I993fs|SEC31A_uc003hnk.3_Frame_Shift_Del_p.I1068fs|SEC31A_uc003hnf.3_Frame_Shift_Del_p.I1107fs|SEC31A_uc011ccn.2_Frame_Shift_Del_p.I1092fs|SEC31A_uc003hnm.3_Frame_Shift_Del_p.I1107fs	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	1107	Interaction with PDCD6.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTCTTGGTAATTTTTTTTGTT	0.388													---	400	---	---	8	---					
CXXC4	80319	broad.mit.edu	37	4	105412094	105412096	+	In_Frame_Del	DEL	GAG	-	-	rs146939312		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:105412094_105412096delGAG	uc003hxg.3	-	0	372_374	c.357_359delCTC	c.(355-360)tcctcg>tcg	p.119_120SS>S	AK094561_uc003hxh.1_5'Flank|CXXC4_uc010ilo.3_Intron	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN	Homo sapiens CXXC finger protein 4 (CXXC4), mRNA.	119	Poly-Ser.				Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	p.S120A(2)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGAGGAGGACGAGGAGGAGGAGG	0.606													---	662	---	---	10	---					
TET2	54790	broad.mit.edu	37	4	106156289	106156291	+	In_Frame_Del	DEL	CAC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:106156289_106156291delCAC	uc011cez.2	+	2	1658_1660	c.1253_1255delCAC	c.(1252-1257)acacca>aca	p.P422del	TET2_uc003hxk.3_In_Frame_Del_p.P401del|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_In_Frame_Del_p.P401del|TET2_uc010ilp.2_In_Frame_Del_p.P401del|TET2_uc021xql.1_In_Frame_Del_p.P401del	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	401					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GCCACTACCACACCACCACCACC	0.453			"""Mis N, F"""		MDS								---	1220	---	---	7	---					
NPNT	255743	broad.mit.edu	37	4	106863682	106863684	+	In_Frame_Del	DEL	CCA	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:106863682_106863684delCCA	uc011cfd.2	+	8	1285_1287	c.1072_1074delCCA	c.(1072-1074)ccadel	p.P363del	NPNT_uc011cfc.2_In_Frame_Del_p.P350del|NPNT_uc011cfe.2_In_Frame_Del_p.P363del|NPNT_uc003hya.3_In_Frame_Del_p.P333del|NPNT_uc011cff.2_In_Frame_Del_p.P333del	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	333	Pro-rich.				cell differentiation	membrane	calcium ion binding	p.S362T(2)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AATTCCTACTCCACCACCACCAC	0.522													---	663	---	---	11	---					
SEC24B	10427	broad.mit.edu	37	4	110402913	110402915	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:110402913_110402915delGAG	uc003hzk.3	+	3	1196_1198	c.1141_1143delGAG	c.(1141-1143)gagdel	p.E384del	SEC24B_uc003hzl.3_Intron|SEC24B_uc011cfp.2_In_Frame_Del_p.E415del|SEC24B_uc011cfq.2_In_Frame_Del_p.E384del|SEC24B_uc011cfr.2_Intron	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	384	Poly-Glu.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	p.E381delE(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TGATgaggaagaggaggaggagg	0.443													---	1154	---	---	8	---					
ADAD1	132612	broad.mit.edu	37	4	123302211	123302211	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:123302211delA	uc003ieo.3	+	3	469	c.237delA	c.(235-237)ccafs	p.P79fs	ADAD1_uc003iep.3_Frame_Shift_Del_p.P79fs|ADAD1_uc003ieq.3_Frame_Shift_Del_p.P61fs	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	79					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTTCCTCCAAAAAAAATAC	0.358													---	581	---	---	12	---					
INTU	27152	broad.mit.edu	37	4	128564917	128564917	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:128564917delA	uc003ifk.2	+	1	491	c.388delA	c.(388-390)aaafs	p.K130fs	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	130										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GCGCTGCAATAAAAAAAATAG	0.358													---	507	---	---	12	---					
INTU	27152	broad.mit.edu	37	4	128608872	128608872	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:128608872delT	uc003ifk.2	+	7	1402	c.1299delT	c.(1297-1299)catfs	p.H433fs	INTU_uc011cgq.2_Intron	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	433										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GTTTGGATCATTTTTTTAACT	0.433													---	975	---	---	8	---					
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	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													---	413	---	---	9	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:146077123_146077125delCAG	uc003ika.4	-	7	596_598	c.458_460delCTG	c.(457-462)gctgat>gat	p.A153del		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.340													---	735	---	---	24	---					
ZNF827	152485	broad.mit.edu	37	4	146823381	146823383	+	In_Frame_Del	DEL	GTG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:146823381_146823383delGTG	uc003ikn.3	-	1	1076_1078	c.1028_1030delCAC	c.(1027-1032)ccacaa>caa	p.P343del	ZNF827_uc003ikm.3_In_Frame_Del_p.P343del|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	343	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCCAGGGATTgtggtggtggtgg	0.512													---	356	---	---	7	---					
LRBA	987	broad.mit.edu	37	4	151842374	151842374	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:151842374delA	uc010ipj.3	-	4	865	c.621delT	c.(619-621)tttfs	p.F207fs	LRBA_uc003ilu.4_Frame_Shift_Del_p.F207fs|LRBA_uc010ipk.1_Frame_Shift_Del_p.F126fs	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	207						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding	p.F206L(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGGAAAGTTAAAAAAGGCAT	0.408													---	1304	---	---	7	---					
SPOCK3	50859	broad.mit.edu	37	4	168155291	168155292	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:168155291_168155292delCA	uc011cjq.1	-	0	126_127	c.69_70delTG	c.(67-72)tgtgcafs	p.C23fs	SPOCK3_uc021xuf.1_Frame_Shift_Del_p.C11fs|SPOCK3_uc011cjr.1_5'UTR|SPOCK3_uc003iri.1_Frame_Shift_Del_p.C11fs|SPOCK3_uc011cjs.1_5'UTR|SPOCK3_uc003irj.1_Frame_Shift_Del_p.C11fs|SPOCK3_uc011cjt.1_5'UTR|SPOCK3_uc011cjp.2_Frame_Shift_Del_p.C11fs|SPOCK3_uc011cju.1_5'UTR|SPOCK3_uc011cjv.1_Frame_Shift_Del_p.C11fs|SPOCK3_uc003irk.4_Frame_Shift_Del_p.C11fs|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	11					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CAAGCGGCTGCACACACACACA	0.609													---	326	---	---	7	---					
DDX60	55601	broad.mit.edu	37	4	169229302	169229302	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:169229302delA	uc003irp.3	-	3	411	c.119delT	c.(118-120)ttgfs	p.L40fs		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	40							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CCCATCAATCAAAAAAAATTC	0.308													---	314	---	---	7	---					
SH3RF1	57630	broad.mit.edu	37	4	170043324	170043326	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:170043324_170043326delCAG	uc003isa.1	-	6	1606_1608	c.1271_1273delCTG	c.(1270-1275)gctgga>gga	p.A424del	SH3RF1_uc010irc.1_In_Frame_Del_p.A124del	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	424	Poly-Ala.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GGTCCCATTCCAGCAGCAGCAGC	0.601													---	374	---	---	9	---					
HMGB2	3148	broad.mit.edu	37	4	174253277	174253279	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:174253277_174253279delTCC	uc011ckc.1	-	3	702_704	c.582_584delGGA	c.(580-585)gaggaa>gaa	p.194_195EE>E	HMGB2_uc003ita.3_In_Frame_Del_p.194_195EE>E|HMGB2_uc003itb.2_In_Frame_Del_p.194_195EE>E	NM_001130689	NP_002120	P26583	HMGB2_HUMAN	Homo sapiens high mobility group box 2 (HMGB2), transcript variant 3, mRNA.	194	Asp/Glu-rich (acidic).				DNA fragmentation involved in apoptotic nuclear change|DNA topological change|V(D)J recombination|base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	DNA bending activity|RAGE receptor binding|chemoattractant activity|damaged DNA binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	p.E194E(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		atcttcttcttcctcctcctcct	0.468													---	680	---	---	17	---					
FRG1	2483	broad.mit.edu	37	4	190876218	190876219	+	Frame_Shift_Ins	INS	-	AT	AT			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:190876218_190876219insAT	uc003izs.3	+	4	535_536	c.344_345insAT	c.(343-345)aaafs	p.K115fs		NM_004477	NP_004468	Q14331	FRG1_HUMAN	Homo sapiens FSHD region gene 1 (FRG1), mRNA.	115					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GGCTATGGAAAATATCTTGGTA	0.361													---	839	---	---	10	---					
FRG1	2483	broad.mit.edu	37	4	190882978	190882980	+	In_Frame_Del	DEL	AAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:190882978_190882980delAAG	uc003izs.3	+	7	822_824	c.631_633delAAG	c.(631-633)aagdel	p.K212del		NM_004477	NP_004468	Q14331	FRG1_HUMAN	Homo sapiens FSHD region gene 1 (FRG1), mRNA.	212					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCTTTACAGAAAGAAATTTCAGA	0.276													---	1009	---	---	8	---					
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:1879669_1879671delCCT	uc003jcz.2	-	3	802_804	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_uc011cmf.1_In_Frame_Del_p.E89del	NM_016358	NP_057442	P78413	IRX4_HUMAN	Homo sapiens iroquois homeobox 4 (IRX4), mRNA.	228	Poly-Glu.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685													---	280	---	---	12	---					
TRIO	7204	broad.mit.edu	37	5	14399056	14399056	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:14399056delA	uc003jff.3	+	29	4497	c.4491delA	c.(4489-4491)ccafs	p.P1497fs	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Frame_Shift_Del_p.P1448fs|TRIO_uc003jfh.1_Frame_Shift_Del_p.P1146fs	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1497	PH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TGTGGGACCCAAAAACCTTAA	0.403													---	907	---	---	8	---					
CDH12	1010	broad.mit.edu	37	5	21817055	21817055	+	Splice_Site	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:21817055delT	uc010iuc.2	-	6	1460	c.1002_splice	c.e6+1	p.K334_splice	CDH12_uc011cno.1_Splice_Site_p.K294_splice|CDH12_uc003jgk.2_Splice_Site_p.K334_splice	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	334	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTATATACCTTTTTCAATTT	0.294										HNSCC(59;0.17)			---	1088	---	---	7	---					
C6	729	broad.mit.edu	37	5	41160299	41160300	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:41160299_41160300delAC	uc003jmk.2	-	10	1838_1839	c.1628_1629delGT	c.(1627-1629)tgtfs	p.C543fs	C6_uc003jml.1_Frame_Shift_Del_p.C543fs	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	543	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCCACTCTGACACACACACAG	0.475													---	1247	---	---	8	---					
FGF10	2255	broad.mit.edu	37	5	44388715	44388717	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	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													---	544	---	---	10	---					
PLK2	10769	broad.mit.edu	37	5	57753012	57753012	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:57753012delA	uc003jrn.3	-	6	1184	c.1004delT	c.(1003-1005)ttgfs	p.L335fs	PLK2_uc021xyx.1_Frame_Shift_Del_p.L321fs	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	335					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	p.L335fs*68(4)		endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ACCAACCTGCAAAAAAAAGTC	0.413													---	316	---	---	9	---					
HAPLN1	1404	broad.mit.edu	37	5	82948434	82948434	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:82948434delT	uc003kim.3	-	1	381	c.310delA	c.(310-312)accfs	p.T104fs	HAPLN1_uc003kin.3_Frame_Shift_Del_p.T104fs	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	104	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.T104fs*8(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CCTCCATAGGTTTTTTTGTGG	0.443													---	1017	---	---	7	---					
RAPGEF6	51735	broad.mit.edu	37	5	130782332	130782332	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:130782332delT	uc003kvn.2	-	21	3471	c.3265delA	c.(3265-3267)aggfs	p.R1089fs	RAPGEF6_uc003kvp.2_Frame_Shift_Del_p.R1139fs|RAPGEF6_uc003kvo.2_Frame_Shift_Del_p.R1102fs|RAPGEF6_uc010jdi.2_Frame_Shift_Del_p.R1097fs|RAPGEF6_uc010jdj.2_Frame_Shift_Del_p.R1097fs|RAPGEF6_uc003kvq.3_Frame_Shift_Del_p.R814fs|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Frame_Shift_Del_p.R1089fs|RAPGEF6_uc003kvm.2_Frame_Shift_Del_p.R12fs	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	1089					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CGGCGTGCCCTTTTTTTGTGA	0.453													---	1196	---	---	10	---					
RAPGEF6	51735	broad.mit.edu	37	5	131007940	131007941	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:131007940_131007941insT	uc003kvs.1	-	13	2338_2339	c.2196_2197insA	c.(2194-2199)aaacctfs	p.K732fs	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Frame_Shift_Ins_p.K704fs|RAPGEF6_uc010jdm.1_Frame_Shift_Ins_p.K687fs	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTATCTGGAGGTTTTTTTTCCA	0.441													---	1329	---	---	7	---					
CDC25C	995	broad.mit.edu	37	5	137627690	137627690	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:137627690delT	uc003lcs.1	-	7	1165	c.965delA	c.(964-966)aagfs	p.K322fs	CDC25C_uc003lcp.1_Frame_Shift_Del_p.K244fs|CDC25C_uc003lcq.1_Frame_Shift_Del_p.K171fs|CDC25C_uc003lcr.1_Frame_Shift_Del_p.K244fs|CDC25C_uc011cyp.1_Frame_Shift_Del_p.K261fs	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	244	Rhodanese.				DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGAAAAATACTTTTTTTTAAC	0.388													---	803	---	---	7	---					
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:140052285delT	uc003lgt.3	-	2	393	c.349delA	c.(349-351)acgfs	p.T117fs		NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	Homo sapiens dead end homolog 1 (zebrafish) (DND1), mRNA.	117	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	p.T117fs*24(2)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													---	74	---	---	7	---					
SPRY4	81848	broad.mit.edu	37	5	141694361	141694363	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:141694361_141694363delTGC	uc010jgi.1	-	2	621_623	c.380_382delGCA	c.(379-384)agcaca>aca	p.S127del	SPRY4_uc003lml.2_In_Frame_Del_p.S104del|SPRY4_uc021yet.1_In_Frame_Del_p.S104del	NM_030964	NP_001120968	Q9C004	SPY4_HUMAN	Homo sapiens sprouty homolog 4 (Drosophila) (SPRY4), transcript variant 1, mRNA.	104					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGAGGATGTGCTGCTGCTGCT	0.660									Testicular Cancer, Familial Clustering of				---	900	---	---	11	---					
PCYOX1L	78991	broad.mit.edu	37	5	148747637	148747637	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:148747637delC	uc003lqk.2	+	5	967	c.905delC	c.(904-906)accfs	p.T302fs	PCYOX1L_uc003lql.2_Frame_Shift_Del_p.T285fs|PCYOX1L_uc010jgz.2_Frame_Shift_Del_p.T226fs|PCYOX1L_uc003lqm.2_Frame_Shift_Del_p.T184fs|PCYOX1L_uc003lqn.2_Frame_Shift_Del_p.T212fs	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	Homo sapiens prenylcysteine oxidase 1 like (PCYOX1L), mRNA.	302					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCATCGCCACCCCCCTGCAC	0.562											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	1324	---	---	7	---					
PPARGC1B	133522	broad.mit.edu	37	5	149216457	149216459	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:149216457_149216459delGGA	uc003lrc.3	+	7	2530_2532	c.2439_2441delGGA	c.(2437-2442)ggggag>ggg	p.E818del	PPARGC1B_uc003lrb.2_In_Frame_Del_p.E818del|PPARGC1B_uc003lrd.3_In_Frame_Del_p.E779del|PPARGC1B_uc021yfr.1_In_Frame_Del_p.E754del|PPARGC1B_uc003lre.1_In_Frame_Del_p.E797del|PPARGC1B_uc003lrf.3_In_Frame_Del_p.E797del	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	818	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity	p.E818G(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaagaaggggaggaggaggag	0.606													---	662	---	---	9	---					
CANX	821	broad.mit.edu	37	5	179149920	179149920	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:179149920delT	uc011dgp.2	+	10	1478	c.1403delT	c.(1402-1404)attfs	p.I468fs	CANX_uc003mkk.3_Frame_Shift_Del_p.I433fs|CANX_uc003mkl.3_Frame_Shift_Del_p.I433fs|CANX_uc011dgq.2_Frame_Shift_Del_p.I325fs	NM_001746	NP_001737	P27824	CALX_HUMAN	Homo sapiens calnexin (CANX), transcript variant 1, mRNA.	433					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTCTGACATTTTTTTTGAC	0.423													---	728	---	---	13	---					
TUBB2B	347733	broad.mit.edu	37	6	3225002	3225004	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:3225002_3225004delCCT	uc003mvg.3	-	3	1510_1512	c.1319_1321delAGG	c.(1318-1323)gagggc>ggc	p.E440del	TUBB2A_uc011dhu.1_Non-coding_Transcript	NM_178012	NP_821080	Q9BVA1	TBB2B_HUMAN	Homo sapiens tubulin, beta 2B class IIb (TUBB2B), mRNA.	440					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.E440K(1)		kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TCGTCCTCGCCCTCCTCCTCCTC	0.650													---	621	---	---	8	---					
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	-	-	rs2274212	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:7393450_7393452delGAC	uc003mxn.3	+	1	364_366	c.190_192delGAC	c.(190-192)gacdel	p.D69del	RIOK1_uc003mxm.1_5'UTR	NM_031480	NP_694550	Q9BRS2	RIOK1_HUMAN	Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA.	69							ATP binding|protein serine/threonine kinase activity	p.V69A(1)|p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													---	556	---	---	35	---					
BTN2A2	10385	broad.mit.edu	37	6	26384091	26384093	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:26384091_26384093delCCT	uc003nht.3	+	1	175_177	c.42_44delCCT	c.(40-45)tccctc>tcc	p.L24del	BTN2A2_uc003nhs.3_In_Frame_Del_p.L24del|BTN2A2_uc011dkf.2_In_Frame_Del_p.L24del|BTN2A2_uc003nhq.3_In_Frame_Del_p.L24del|BTN2A2_uc003nhr.3_In_Frame_Del_p.L24del|BTN2A2_uc011dkh.2_In_Frame_Del_p.L24del|BTN2A2_uc011dkg.2_In_Frame_Del_p.L24del	NM_001197237	NP_001184166	Q8WVV5	BT2A2_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 3, mRNA.	24					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGCCAGCCTCcctcctcctcctc	0.581													---	813	---	---	15	---					
ZNF184	7738	broad.mit.edu	37	6	27420810	27420810	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:27420810delT	uc003njj.3	-	4	1339	c.528delA	c.(526-528)aaafs	p.K176fs	ZNF184_uc010jqv.3_Frame_Shift_Del_p.K176fs|ZNF184_uc003nji.3_Frame_Shift_Del_p.K176fs	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTACAGGGCCTTTTTCCCAAC	0.408													---	1560	---	---	13	---					
LOC554223	554223	broad.mit.edu	37	6	29760353	29760373	+	In_Frame_Del	DEL	GCGGGCGCCGTGGATGGAGCA	-	-	rs74661005	by1000genomes	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	uc003nnt.3	+	1	540_560	c.438_458delGCGGGCGCCGTGGATGGAGCA	c.(436-459)ccgcgggcgccgtggatggagcag>ccg	p.RAPWMEQ147del	HCG4_uc003nns.3_Non-coding_Transcript|LOC554223_uc010jrm.1_In_Frame_Del_p.AGAVDGA111del	NM_001207043	NP_001193972	Q86V94	Q86V94_HUMAN	Homo sapiens histocompatibility antigen-related (LOC554223), mRNA.	147					antigen processing and presentation|immune response	MHC class I protein complex											GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674													---	34	---	---	13	---					
PPP1R10	5514	broad.mit.edu	37	6	30569334	30569334	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:30569334delG	uc003nqn.1	-	19	3367	c.2815delC	c.(2815-2817)ctgfs	p.L939fs	PPP1R10_uc010jsc.1_Frame_Shift_Del_p.L593fs	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	939					protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CCCTAGGGCAGGGGGGGCCCA	0.572													---	480	---	---	8	---					
PPP1R10	5514	broad.mit.edu	37	6	30570264	30570266	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:30570264_30570266delGGA	uc003nqn.1	-	18	2712_2714	c.2160_2162delTCC	c.(2158-2163)cctcca>cca	p.720_721PP>P	PPP1R10_uc010jsc.1_In_Frame_Del_p.374_375PP>P	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	720	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCCTCGGAATggaggaggaggag	0.670													---	448	---	---	10	---					
PPP1R10	5514	broad.mit.edu	37	6	30571900	30571900	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:30571900delG	uc003nqn.1	-	13	1945	c.1393delC	c.(1393-1395)cggfs	p.R465fs	PPP1R10_uc010jsc.1_Frame_Shift_Del_p.R119fs	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	465	Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						ACCAGGGGCCGGGGGCACACC	0.582													---	2005	---	---	7	---					
TAF11	6882	broad.mit.edu	37	6	34846381	34846381	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:34846381delT	uc003ojw.1	-	4	707	c.622delA	c.(622-624)atcfs	p.I208fs	UHRF1BP1_uc010jvm.2_Intron|TAF11_uc011dsr.1_3'UTR	NM_005643	NP_005634	Q15544	TAF11_HUMAN	Homo sapiens TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa (TAF11), mRNA.	208					positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding	p.I208fs*>4(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						AAGAAGATGATTTTTTTGTGC	0.423													---	818	---	---	7	---					
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:41168714_41168716delCAG	uc010jxm.1	-	0	210_212	c.31_33delCTG	c.(31-33)ctgdel	p.L11del		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	11					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631													---	324	---	---	22	---					
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	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													---	875	---	---	20	---					
UBR2	23304	broad.mit.edu	37	6	42625778	42625778	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:42625778delA	uc011dur.2	+	26	3187	c.2889delA	c.(2887-2889)ccafs	p.P963fs	UBR2_uc011dus.2_Frame_Shift_Del_p.P608fs|UBR2_uc003osh.3_Non-coding_Transcript	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	963					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GTGAAGCGCCAAAAAATTCTC	0.383													---	1874	---	---	9	---					
KIAA0240	23506	broad.mit.edu	37	6	42823616	42823616	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:42823616delA	uc003osn.1	+	8	2220	c.2069delA	c.(2068-2070)caafs	p.Q690fs	KIAA0240_uc011duw.1_Frame_Shift_Del_p.Q690fs|KIAA0240_uc003osp.1_Frame_Shift_Del_p.Q690fs	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	690										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			TCGGGAGGACAAAAAAGGCCT	0.388													---	1151	---	---	9	---					
RNGTT	8732	broad.mit.edu	37	6	89638988	89638988	+	Splice_Site	DEL	T	-	-	rs111616936		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:89638988delT	uc003pmr.2	-	3	395	c.175_splice	c.e3-1	p.V59_splice	RNGTT_uc003pms.2_Splice_Site_p.V59_splice|RNGTT_uc011dzu.1_Splice_Site|RNGTT_uc003pmt.2_Splice_Site_p.V59_splice	NM_003800	NP_003791	O60942	MCE1_HUMAN	Homo sapiens RNA guanylyltransferase and 5'-phosphatase (RNGTT), mRNA.	59	TPase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CATTTTAACCTAAAAAAAAAA	0.299													---	355	---	---	8	---					
FYN	2534	broad.mit.edu	37	6	111983042	111983042	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:111983042delT	uc003pvj.3	-	12	1854	c.1514delA	c.(1513-1515)aagfs	p.K505fs	FYN_uc003pvi.3_Frame_Shift_Del_p.K450fs|FYN_uc003pvk.3_Frame_Shift_Del_p.K505fs|FYN_uc003pvh.3_Frame_Shift_Del_p.K502fs	NM_002037	NP_002028	P06241	FYN_HUMAN	Homo sapiens FYN oncogene related to SRC, FGR, YES (FYN), transcript variant 1, mRNA.	505	Protein kinase.				T cell costimulation|T cell receptor signaling pathway|axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TTCAGGGTCCTTTTTCCAGCA	0.562													---	1896	---	---	9	---					
KIAA0408	9729	broad.mit.edu	37	6	127767596	127767596	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:127767596delC	uc011ebs.2	-	4	2204	c.1868delG	c.(1867-1869)ggafs	p.G623fs	KIAA0408_uc003qbc.3_Frame_Shift_Del_p.G623fs|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_Intron|KIAA0408_uc003qbb.3_Frame_Shift_Del_p.G506fs	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CACTTCCTGTCCCCCCCACAC	0.398													---	2604	---	---	10	---					
EPB41L2	2037	broad.mit.edu	37	6	131191073	131191075	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:131191073_131191075delCTG	uc003qch.2	-	14	2417_2419	c.2235_2237delCAG	c.(2233-2238)agcagt>agt	p.745_746SS>S	EPB41L2_uc003qce.1_In_Frame_Del_p.123_124SS>S|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc010kfl.2_In_Frame_Del_p.675_676SS>S|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc003qci.3_In_Frame_Del_p.675_676SS>S|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_In_Frame_Del_p.142_143SS>S	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	745					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCACTCTCACTGCTGCTGCTGC	0.562													---	830	---	---	12	---					
AIG1	51390	broad.mit.edu	37	6	143457987	143457987	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:143457987delT	uc003qjh.3	+	1	197	c.157delT	c.(157-159)tttfs	p.F53fs	AIG1_uc003qjf.3_Frame_Shift_Del_p.F43fs|AIG1_uc003qji.3_Intron|AIG1_uc011edw.1_Frame_Shift_Del_p.F53fs|AIG1_uc003qjg.3_Frame_Shift_Del_p.F53fs	NM_016108	NP_057192	Q9NVV5	AIG1_HUMAN	Homo sapiens androgen-induced 1 (AIG1), mRNA.	53						integral to membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		CCAGGCTGTCTTTTTTGGCAT	0.507													---	1859	---	---	9	---					
GRM1	2911	broad.mit.edu	37	6	146755399	146755401	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:146755399_146755401delCAG	uc010khw.1	+	8	3522_3524	c.3052_3054delCAG	c.(3052-3054)cagdel	p.Q1022del	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	1022	Gln/Pro-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCTCCTCTCCAGCAGCAGCAGC	0.660													---	1359	---	---	9	---					
SYNJ2	8871	broad.mit.edu	37	6	158508009	158508009	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:158508009delC	uc003qqx.2	+	22	3437	c.3331delC	c.(3331-3333)cccfs	p.P1111fs	SYNJ2_uc003qqw.2_Frame_Shift_Del_p.P1111fs|SYNJ2_uc003qqy.2_Frame_Shift_Del_p.P874fs|SYNJ2_uc003qqz.2_Frame_Shift_Del_p.P728fs|SYNJ2_uc003qra.2_Frame_Shift_Del_p.P454fs	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1111	Pro-rich.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	p.P1113fs*5(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCCGCAGAGACCCCCCCCTCC	0.637													---	548	---	---	8	---					
COX19	90639	broad.mit.edu	37	7	1009017	1009017	+	Frame_Shift_Del	DEL	T	-	-	rs75087611		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:1009017delT	uc003sjp.1	-	2	360	c.270delA	c.(268-270)aaafs	p.K90fs	ADAP1_uc010ksc.3_Intron	NM_001031617	NP_001026788	Q49B96	COX19_HUMAN	Homo sapiens COX19 cytochrome c oxidase assembly homolog (S. cerevisiae) (COX19), mRNA.	90						cytosol				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		TCAAAATTCATTTTTTTGCCT	0.463													---	2537	---	---	7	---					
ZDHHC4	55146	broad.mit.edu	37	7	6621848	6621849	+	Frame_Shift_Ins	INS	-	T	T	rs34551853		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:6621848_6621849insT	uc003sqi.3	+	5	694_695	c.336_337insT	c.(334-339)ctgtttfs	p.L112fs	ZDHHC4_uc003sql.3_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqj.3_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqh.3_Frame_Shift_Ins_p.L112fs	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	112						integral to membrane	acyltransferase activity|zinc ion binding	p.F115fs*3(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GTGTAAACCTGTTTTTTTTCAC	0.450													---	1482	---	---	12	---					
MPP6	51678	broad.mit.edu	37	7	24705666	24705666	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:24705666delA	uc003swx.3	+	8	1209	c.910delA	c.(910-912)aaafs	p.K304fs	MPP6_uc003swy.3_Frame_Shift_Del_p.K304fs	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	304					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TATAAGTAGCAAAAAAAAGAA	0.299													---	1182	---	---	7	---					
HOXA11	3207	broad.mit.edu	37	7	27222461	27222462	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:27222461_27222462insT	uc003syx.3	-	1	967_968	c.895_896insA	c.(895-897)attfs	p.I299fs	HOXA9_uc022aar.1_5'Flank|HOXA10_uc003syw.4_5'Flank|HOXA11_uc003syy.3_Non-coding_Transcript|HOXA11-AS_uc003syz.1_5'Flank	NM_005523	NP_005514	P31270	HXA11_HUMAN	Homo sapiens homeobox A11 (HOXA11), mRNA.	299					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GTCTCTGTTAATTTTTTTTTCC	0.446			T	NUP98	CML								---	858	---	---	26	---					
AOAH	313	broad.mit.edu	37	7	36552949	36552949	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:36552949delT	uc022abu.1	-	21	2157	c.1756delA	c.(1756-1758)aggfs	p.R586fs	AOAH_uc003tfh.4_Frame_Shift_Del_p.K546fs|AOAH_uc011kba.2_Frame_Shift_Del_p.K514fs	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	0					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GAGCTGCACCTTTTTCCAGAA	0.502													---	564	---	---	8	---					
INHBA	3624	broad.mit.edu	37	7	41729741	41729743	+	In_Frame_Del	DEL	TTC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:41729741_41729743delTTC	uc003thq.3	-	1	1021_1023	c.786_788delGAA	c.(784-789)aagaaa>aaa	p.262_263KK>K	INHBA_uc003thr.3_In_Frame_Del_p.262_263KK>K	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	262					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ctcctcttctttcttcttcttct	0.581										TSP Lung(11;0.080)			---	318	---	---	9	---					
VKORC1L1	154807	broad.mit.edu	37	7	65419353	65419354	+	In_Frame_Ins	INS	-	TTA	TTA	rs71982071		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:65419353_65419354insTTA	uc011kds.2	+	1	589_590	c.487_488insTTA	c.(487-489)ttt>tTTAtt	p.171_172insI	VKORC1L1_uc003tul.3_3'UTR|VKORC1L1_uc003tum.1_5'Flank			Q8N0U8	VKORL_HUMAN	Homo sapiens vitamin K epoxide reductase complex, subunit 1-like 1 (VKORC1L1), mRNA.	0						integral to membrane				large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	GCAGCAGGTTTttattattatt	0.416													---	68	---	---	11	---					
STX1A	6804	broad.mit.edu	37	7	73123425	73123427	+	In_Frame_Del	DEL	CAT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:73123425_73123427delCAT	uc003tyx.3	-	1	112_114	c.56_58delATG	c.(55-60)gatgtc>gtc	p.D19del	STX1A_uc003tyy.3_In_Frame_Del_p.D19del|STX1A_uc010lbj.2_In_Frame_Del_p.D19del|MIR4284_uc022afw.1_5'Flank	NM_004603	NP_004594	Q16623	STX1A_HUMAN	Homo sapiens syntaxin 1A (brain) (STX1A), transcript variant 1, mRNA.	19					energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTGACAGCGACATCATCATCATC	0.586													---	1137	---	---	7	---					
LIMK1	3984	broad.mit.edu	37	7	73535310	73535311	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:73535310_73535311insC	uc003uaa.2	+	14	1926_1927	c.1712_1713insC	c.(1711-1713)tgcfs	p.C571fs	LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Frame_Shift_Ins_p.C537fs	NM_002314	NP_002305	P53667	LIMK1_HUMAN	Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA.	571	Protein kinase.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				GACCGCTACTGCCCCCCAAACT	0.644													---	2112	---	---	7	---					
RSBN1L	222194	broad.mit.edu	37	7	77326220	77326222	+	In_Frame_Del	DEL	CCG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:77326220_77326222delCCG	uc010ldt.1	+	0	478_480	c.434_436delCCG	c.(433-438)cccgcc>ccc	p.A151del	LOC100505854_uc003ugj.1_Non-coding_Transcript|LOC100505854_uc003ugk.4_Non-coding_Transcript	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	151	Poly-Ala.					nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCTCCTGCCCGCCGCCGCCGC	0.685													---	249	---	---	10	---					
ABCB4	5244	broad.mit.edu	37	7	87074281	87074282	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:87074281_87074282insA	uc003uiv.1	-	9	1091_1092	c.1015_1016insT	c.(1015-1017)tcafs	p.S339fs	ABCB4_uc003uiw.1_Frame_Shift_Ins_p.S339fs|ABCB4_uc003uix.1_Frame_Shift_Ins_p.S339fs	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	339	ABC transmembrane type-1 1.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.S339fs*3(2)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AATTAGGATTGAAAAAAAAACC	0.347													---	267	---	---	7	---					
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99032605	99032607	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:99032605_99032607delCTC	uc011kiw.2	-	2	466_468	c.406_408delGAG	c.(406-408)gagdel	p.E136del	ATP5J2-PTCD1_uc003uqh.3_In_Frame_Del_p.E87del	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	136								p.E87K(1)									TCCCAAAACTCTCCTCCTCCTCC	0.606													---	969	---	---	8	---					
MEPCE	56257	broad.mit.edu	37	7	100028452	100028454	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:100028452_100028454delCAG	uc003uuw.3	+	0	1199_1201	c.811_813delCAG	c.(811-813)cagdel	p.Q274del	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_Intron|MEPCE_uc022aio.1_Intron|MEPCE_uc003uuv.3_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	274							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)					ACAGCACCACCAGCAGCAGCAGG	0.650													---	1444	---	---	7	---					
MEPCE	56257	broad.mit.edu	37	7	100028823	100028825	+	In_Frame_Del	DEL	CCA	-	-	rs71555278		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	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													---	489	---	---	8	---					
GIGYF1	64599	broad.mit.edu	37	7	100283635	100283637	+	In_Frame_Del	DEL	TCC	-	-	rs142340746		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:100283635_100283637delTCC	uc003uwg.1	-	8	2023_2025	c.1014_1016delGGA	c.(1012-1017)gaggaa>gaa	p.338_339EE>E		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	338	Poly-Glu.									central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTCGGAAGGTTCCTCCTCCTCCT	0.675													---	528	---	---	7	---					
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:100284335_100284337delCCT	uc003uwg.1	-	6	1638_1640	c.629_631delAGG	c.(628-633)gagggc>ggc	p.E210del		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	210	Poly-Glu.							p.E210delE(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCAGCTGCcctcctcctcctc	0.700													---	391	---	---	8	---					
SRRT	51593	broad.mit.edu	37	7	100482040	100482042	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:100482040_100482042delAGG	uc003uwy.2	+	6	1076_1078	c.809_811delAGG	c.(808-813)caggag>cag	p.E275del	SRRT_uc010lhl.1_In_Frame_Del_p.E275del|SRRT_uc003uxa.2_In_Frame_Del_p.E275del|SRRT_uc003uwz.2_In_Frame_Del_p.E275del	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	275	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATCCTGGAGCAGGAGGAGGAGGA	0.596													---	168	---	---	12	---					
LAMB1	3912	broad.mit.edu	37	7	107572729	107572730	+	Frame_Shift_Ins	INS	-	C	C	rs57244800	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:107572729_107572730insC	uc003vev.2	-	25	4514_4515	c.4353_4354insG	c.(4351-4356)gggcctfs	p.G1451fs	LAMB1_uc003vew.2_Frame_Shift_Ins_p.G1427fs	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1427	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCACAGCCAGGCCCCCCACACT	0.584													---	1460	---	---	9	---					
FOXP2	93986	broad.mit.edu	37	7	114270016	114270018	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:114270016_114270018delCAG	uc003vhb.3	+	4	927_929	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_In_Frame_Del_p.Q216del|FOXP2_uc003vha.3_In_Frame_Del_p.Q99del|FOXP2_uc011kmv.2_In_Frame_Del_p.Q191del|FOXP2_uc011kmu.2_In_Frame_Del_p.Q208del|FOXP2_uc010ljz.2_In_Frame_Del_p.Q99del|FOXP2_uc003vgt.2_Non-coding_Transcript|FOXP2_uc003vgv.1_In_Frame_Del_p.Q191del|FOXP2_uc003vgx.2_In_Frame_Del_p.Q191del|FOXP2_uc003vhc.3_In_Frame_Del_p.Q216del|FOXP2_uc003vhd.3_In_Frame_Del_p.Q191del	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	191	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507													---	426	---	---	13	---					
ZNF800	168850	broad.mit.edu	37	7	127015056	127015057	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:127015056_127015057insT	uc010lla.2	-	4	1045_1046	c.333_334insA	c.(331-336)caagccfs	p.Q111fs	ZNF800_uc003vlw.1_Frame_Shift_Ins_p.Q14fs|ZNF800_uc003vlx.1_Frame_Shift_Ins_p.Q111fs|ZNF800_uc003vly.1_Frame_Shift_Ins_p.Q111fs	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TCATTTATGGCTTGGCTTTGTT	0.327											OREG0003806	type=REGULATORY REGION|Gene=BC037348|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	813	---	---	8	---					
OR9A4	130075	broad.mit.edu	37	7	141619203	141619203	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:141619203delT	uc003vwu.1	+	0	528	c.528delT	c.(526-528)aatfs	p.N176fs		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N176I(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TGGTGAACAATTTTTTTTGTG	0.383													---	1308	---	---	13	---					
SSPO	23145	broad.mit.edu	37	7	149474083	149474083	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:149474083delG	uc010lpk.3	+	2	293	c.293delG	c.(292-294)tggfs	p.W98fs	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	98	EMI.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCCAGGCTGGGGGGGCGCC	0.622													---	621	---	---	9	---					
XRCC2	7516	broad.mit.edu	37	7	152346220	152346220	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:152346220delA	uc003wld.3	-	2	436	c.350delT	c.(349-351)ttgfs	p.L117fs		NM_005431	NP_005422	O43543	XRCC2_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 2 (XRCC2), mRNA.	117					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	p.V118fs*5(1)		NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GCAGTACACCAAAAAAAATCT	0.393								Homologous recombination					---	694	---	---	10	---					
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:6289099delA	uc003wqi.3	+	3	389	c.313delA	c.(313-315)aaafs	p.K105fs	MCPH1_uc003wqh.3_Frame_Shift_Del_p.K105fs|MCPH1_uc011kwl.2_Frame_Shift_Del_p.K105fs	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	105						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274													---	600	---	---	19	---					
EPB49	2039	broad.mit.edu	37	8	21926552	21926552	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:21926552delC	uc022asw.1	+	3	313	c.275delC	c.(274-276)tccfs	p.S92fs	EPB49_uc022asq.1_Frame_Shift_Del_p.S92fs|EPB49_uc011kys.1_Intron|EPB49_uc022asr.1_Frame_Shift_Del_p.S92fs|EPB49_uc022ass.1_Frame_Shift_Del_p.S67fs|EPB49_uc022ast.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asu.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asv.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asx.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asy.1_Frame_Shift_Del_p.S67fs	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	92					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		AAATCCACATCCCCCCCACCA	0.602													---	1019	---	---	7	---					
ADAM28	10863	broad.mit.edu	37	8	24167472	24167473	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:24167472_24167473insA	uc003xdy.3	+	2	299_300	c.216_217insA	c.(214-219)ttgaaafs	p.L72fs	ADAM28_uc003xdx.3_Frame_Shift_Ins_p.L72fs|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	72					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCTTTATTTGAAAAAAAACAA	0.332													---	801	---	---	9	---					
PBK	55872	broad.mit.edu	37	8	27668477	27668479	+	In_Frame_Del	DEL	TCA	-	-	rs116080983	by1000genomes	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:27668477_27668479delTCA	uc011lap.2	-	6	1167_1169	c.801_803delTGA	c.(799-804)gatgaa>gaa	p.D267del	ESCO2_uc010luy.1_Intron|PBK_uc003xgi.3_In_Frame_Del_p.D256del	NM_018492	NP_060962	Q96KB5	TOPK_HUMAN	Homo sapiens PDZ binding kinase (PBK), mRNA.	256	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		ATTCATACCTTCATCATCATCAT	0.300													---	392	---	---	8	---					
C8orf80	389643	broad.mit.edu	37	8	27888776	27888776	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:27888776delT	uc003xgm.4	-	14	2035	c.1892delA	c.(1891-1893)aatfs	p.N631fs		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	631						nucleus	GTP binding|GTPase activity	p.N631H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		GATCAGGAAATTTTTTTTGCA	0.453													---	1417	---	---	10	---					
NRG1	3084	broad.mit.edu	37	8	32614021	32614021	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:32614021delC	uc003xiv.2	+	8	1421	c.904delC	c.(904-906)cccfs	p.P302fs	NRG1_uc022ats.1_Frame_Shift_Del_p.P252fs|NRG1_uc011lbf.1_Frame_Shift_Del_p.P299fs|NRG1_uc010lvo.2_Frame_Shift_Del_p.P299fs|NRG1_uc003xiu.2_Frame_Shift_Del_p.P307fs|NRG1_uc003xiw.2_Frame_Shift_Del_p.P299fs|NRG1_uc003xit.2_Frame_Shift_Del_p.P302fs|NRG1_uc010lvr.2_Frame_Shift_Del_p.P44fs|NRG1_uc010lvs.2_Frame_Shift_Del_p.P44fs|NRG1_uc010lvp.2_Frame_Shift_Del_p.P256fs|NRG1_uc010lvq.2_Frame_Shift_Del_p.P232fs|NRG1_uc011lbg.1_Frame_Shift_Del_p.P148fs|NRG1_uc011lbh.1_Frame_Shift_Del_p.P145fs|NRG1_uc003xja.2_Frame_Shift_Del_p.P113fs	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	302					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TCCTAACCCACCCCCCGAGAA	0.493													---	1020	---	---	7	---					
CHD7	55636	broad.mit.edu	37	8	61769038	61769040	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:61769038_61769040delGGA	uc003xue.3	+	33	7691_7693	c.7199_7201delGGA	c.(7198-7203)cggagg>cgg	p.2400_2401RR>R	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2400	Poly-Arg.				T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCTCGCCAGCGGAGGAGGAGGAG	0.512													---	232	---	---	9	---					
ZNF704	619279	broad.mit.edu	37	8	81733713	81733713	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:81733713delT	uc003yby.2	-	1	349	c.117delA	c.(115-117)aaafs	p.K39fs		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	Homo sapiens zinc finger protein 704 (ZNF704), mRNA.	39						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCCGGCTGGCTTTTTTGGTGT	0.428													---	2407	---	---	7	---					
LRRCC1	85444	broad.mit.edu	37	8	86038947	86038948	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:86038947_86038948delAG	uc003ycw.3	+	8	1504_1505	c.1296_1297delAG	c.(1294-1299)caagagfs	p.Q432fs	LRRCC1_uc010lzz.2_Non-coding_Transcript|LRRCC1_uc022awx.1_Frame_Shift_Del_p.Q339fs|LRRCC1_uc010maa.2_Frame_Shift_Del_p.Q133fs|LRRCC1_uc003ycy.3_Frame_Shift_Del_p.Q412fs	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	432					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AGCTAGACCAAGAGAGAGAGAA	0.361													---	401	---	---	10	---					
TP53INP1	94241	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	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													---	402	---	---	20	---					
RGS22	26166	broad.mit.edu	37	8	100990177	100990178	+	Frame_Shift_Ins	INS	-	T	T	rs7841915	by1000genomes	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:100990177_100990178insT	uc003yjb.1	-	22	3681_3682	c.3486_3487insA	c.(3484-3489)aaattgfs	p.K1162fs	RGS22_uc003yja.1_Frame_Shift_Ins_p.K981fs|RGS22_uc003yjc.1_Frame_Shift_Ins_p.K1150fs|RGS22_uc022azf.1_Frame_Shift_Ins_p.K551fs	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	1162					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)			AGGACTGCCAATTTTTTTTTCT	0.312													---	435	---	---	14	---					
CSMD3	114788	broad.mit.edu	37	8	113241029	113241029	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:113241029delA	uc003ynu.3	-	69	11079	c.10920delT	c.(10918-10920)tttfs	p.F3640fs	CSMD3_uc003yns.3_Frame_Shift_Del_p.F2842fs|CSMD3_uc003ynt.3_Frame_Shift_Del_p.F3600fs|CSMD3_uc011lhx.2_Frame_Shift_Del_p.F3471fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3640						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATAAGTGCAAAAAAAGGCA	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	614	---	---	8	---					
ATAD2	29028	broad.mit.edu	37	8	124368685	124368685	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:124368685delA	uc003yqh.4	-	12	1698	c.1590delT	c.(1588-1590)tttfs	p.F530fs	ATAD2_uc011lii.2_Frame_Shift_Del_p.F321fs|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Frame_Shift_Del_p.F530fs	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATTTCGTCAAAAAAAATAA	0.413													---	337	---	---	14	---					
MYC	4609	broad.mit.edu	37	8	128750605	128750607	+	In_Frame_Del	DEL	CAG	-	-	rs61752959	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:128750605_128750607delCAG	uc022bbe.1	+	1	667_669	c.97_99delCAG	c.(97-99)cagdel	p.Q37del	MYC_uc003ysh.1_In_Frame_Del_p.Q37del|MYC_uc003ysi.3_In_Frame_Del_p.Q52del			P01106	MYC_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.	37	Poly-Gln.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q33H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		GAACTTCTACCAGCAGCAGCAGC	0.611		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	683	---	---	11	---					
COL22A1	169044	broad.mit.edu	37	8	139809072	139809072	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:139809072delT	uc003yvd.3	-	11	2033	c.1586delA	c.(1585-1587)aagfs	p.K529fs		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	529	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTTCACCCTTTTCCCCTTG	0.463										HNSCC(7;0.00092)			---	2197	---	---	9	---					
EIF2C2	27161	broad.mit.edu	37	8	141554345	141554345	+	Frame_Shift_Del	DEL	G	-	-	rs148575703	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:141554345delG	uc003yvn.3	-	13	1847	c.1806delC	c.(1804-1806)cccfs	p.P602fs	EIF2C2_uc010meo.3_Frame_Shift_Del_p.P602fs|EIF2C2_uc010men.3_Frame_Shift_Del_p.P525fs	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	602	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CATCCCCGGCGGGGGGGTGAG	0.647													---	1602	---	---	7	---					
KIAA0020	9933	broad.mit.edu	37	9	2837296	2837296	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr9:2837296delT	uc003zhp.1	-	2	284	c.188delA	c.(187-189)aagfs	p.K63fs	KIAA0020_uc003zhq.1_Frame_Shift_Del_p.K63fs	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	63						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388													---	1559	---	---	8	---					
KIAA1432	57589	broad.mit.edu	37	9	5743708	5743708	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr9:5743708delA	uc003zjl.4	+	9	1257	c.1066delA	c.(1066-1068)aaafs	p.K356fs	KIAA1432_uc003zjh.3_Frame_Shift_Del_p.K277fs|KIAA1432_uc003zji.3_Frame_Shift_Del_p.K277fs|KIAA1432_uc003zjj.1_5'UTR	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	356						integral to membrane		p.G356E(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGATGGCACCAAAAAAGATCC	0.279													---	1384	---	---	7	---					
PTPLAD2	401494	broad.mit.edu	37	9	21007045	21007046	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr9:21007045_21007046insT	uc010miq.2	-	6	735_736	c.689_690insA	c.(688-690)aagfs	p.K230fs	PTPLAD2_uc010mir.1_Frame_Shift_Ins_p.K230fs	NM_001010915	NP_001010915	Q5VWC8	HACD4_HUMAN	Homo sapiens protein tyrosine phosphatase-like A domain containing 2 (PTPLAD2), mRNA.	230	Poly-Lys.				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TTCACATCTTCTTTTTTTTAAT	0.371													---	633	---	---	15	---					
ACO1	48	broad.mit.edu	37	9	32420980	32420980	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr9:32420980delT	uc003zqw.4	+	7	1080	c.925delT	c.(925-927)tttfs	p.F309fs	ACO1_uc010mjh.1_Frame_Shift_Del_p.F143fs|ACO1_uc003zqx.4_Frame_Shift_Del_p.F309fs|ACO1_uc003zqy.4_Non-coding_Transcript	NM_002197	NP_002188	P21399	ACOC_HUMAN	Homo sapiens aconitase 1, soluble (ACO1), mRNA.	309					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	Golgi apparatus|cytosol|endoplasmic reticulum	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AACTGCTGCCTTTTTCCCAGT	0.483													---	1592	---	---	7	---					
HRCT1	646962	broad.mit.edu	37	9	35906348	35906350	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr9:35906348_35906350delCTG	uc003zyr.1	+	0	160_162	c.64_66delCTG	c.(64-66)ctgdel	p.L28del		NM_001039792	NP_001034881	Q6UXD1	HRCT1_HUMAN	Homo sapiens histidine rich carboxyl terminus 1 (HRCT1), mRNA.	28						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						TGTGGCGGTCctgctgctgctgc	0.670													---	193	---	---	17	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr9:43844265delG	uc004ada.2	+	9	2009	c.1599delG	c.(1597-1599)gcgfs	p.A533fs	CNTNAP3B_uc004acz.2_Intron	NM_001201380	NP_001188309	Q96NU0	CNT3B_HUMAN	Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA.	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													---	190	---	---	10	---					
BC080605	0	broad.mit.edu	37	9	68413605	68413606	+	RNA	DEL	CT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr9:68413605_68413606delCT	uc004aex.3	+	0		c.160_161delCT								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		TTTGCTGAAACTCTGGGGTTGA	0.609													---	36	---	---	7	---					
ANKRD19P	138649	broad.mit.edu	37	9	95599088	95599089	+	RNA	DEL	CA	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr9:95599088_95599089delCA	uc004ass.2	+	8		c.1172_1173delCA			ANKRD19P_uc004asr.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 19, pseudogene (ANKRD19P), non-coding RNA.																		TTCACGGGCGCACACACACACA	0.421													---	398	---	---	9	---					
PTCH1	5727	broad.mit.edu	37	9	98278959	98278961	+	In_Frame_Del	DEL	TTC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr9:98278959_98278961delTTC	uc004avm.4	-	0	287_289	c.142_144delGAA	c.(142-144)gaadel	p.E48del	PTCH1_uc010mrr.3_5'UTR|PTCH1_uc004avo.2_5'UTR|PTCH1_uc010mrv.1_Non-coding_Transcript|PTCH1_uc010mrw.1_Non-coding_Transcript	NM_001083603	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1a', mRNA.	0					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ctcctccgttttcttcttcttct	0.586													---	418	---	---	9	---					
PALM2-AKAP2	445815	broad.mit.edu	37	9	112705448	112705448	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr9:112705448delA	uc004bei.2	+	6	1171	c.979delA	c.(979-981)aaafs	p.K327fs	PALM2-AKAP2_uc004beg.3_Frame_Shift_Del_p.K295fs|PALM2-AKAP2_uc004beh.4_Frame_Shift_Del_p.K327fs|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							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						AGAGGAGACGAAAAAGGTGCT	0.507													---	826	---	---	8	---					
CCBL1	883	broad.mit.edu	37	9	131600393	131600393	+	Frame_Shift_Del	DEL	A	-	-	rs34879109		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr9:131600393delA	uc004bwh.3	-	4	560	c.375delT	c.(373-375)tttfs	p.F125fs	CCBL1_uc004bwg.3_Non-coding_Transcript|CCBL1_uc010myn.3_Frame_Shift_Del_p.F125fs|CCBL1_uc004bwj.3_Frame_Shift_Del_p.F75fs|CCBL1_uc004bwi.3_Non-coding_Transcript|CCBL1_uc011mbl.2_Frame_Shift_Del_p.F219fs	NM_004059	NP_004050	Q16773	KAT1_HUMAN	Homo sapiens cysteine conjugate-beta lyase, cytoplasmic (CCBL1), transcript variant 1, mRNA.	125					L-phenylalanine catabolic process|kynurenine metabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	CGTAGCAGTCAAAAAAGGGTT	0.537													---	1118	---	---	7	---					
CEL	1056	broad.mit.edu	37	9	135941982	135941982	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr9:135941982delG	uc010naa.1	+	4	629	c.613delG	c.(613-615)gggfs	p.G205fs		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	202					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CGCGGCCTTCGGGGGGGACCC	0.642													---	1459	---	---	8	---					
SURF2	6835	broad.mit.edu	37	9	136226880	136226882	+	In_Frame_Del	DEL	GGA	-	-	rs149969130		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr9:136226880_136226882delGGA	uc004cdi.2	+	3	440_442	c.392_394delGGA	c.(391-396)cggagg>cgg	p.131_132RR>R		NM_017503	NP_059973	Q15527	SURF2_HUMAN	Homo sapiens surfeit 2 (SURF2), mRNA.	131							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		CTGGTGCACCGGAGGAGGAGGAG	0.635													---	257	---	---	11	---					
C9orf69	90120	broad.mit.edu	37	9	139008444	139008446	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr9:139008444_139008446delCAG	uc004cgx.4	-	1	826_828	c.375_377delCTG	c.(373-378)tgctgg>tgg	p.C125del	C9orf69_uc004cgy.2_Non-coding_Transcript	NM_152833	NP_690046			Homo sapiens chromosome 9 open reading frame 69 (C9orf69), mRNA.											endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GCCGGCGGCCCAGCAGCAGCAGC	0.685													---	238	---	---	8	---					
GRIN1	2902	broad.mit.edu	37	9	140056884	140056886	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr9:140056884_140056886delGAG	uc004clk.3	+	12	2110_2112	c.1780_1782delGAG	c.(1780-1782)gagdel	p.E598del	GRIN1_uc004cli.1_In_Frame_Del_p.E273del|GRIN1_uc004clj.1_In_Frame_Del_p.E595del|GRIN1_uc004cln.3_In_Frame_Del_p.E619del|GRIN1_uc004clo.3_In_Frame_Del_p.E619del|GRIN1_uc004clm.3_In_Frame_Del_p.E598del|GRIN1_uc004cll.3_In_Frame_Del_p.E598del	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA.	598					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GGTGAACAGCGAGGAGGAGGAGG	0.739													---	289	---	---	12	---					
TPRN	286262	broad.mit.edu	37	9	140087025	140087027	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr9:140087025_140087027delTCC	uc004clt.3	-	1	1842_1844	c.1842_1844delGGA	c.(1840-1845)gaggaa>gaa	p.614_615EE>E	TPRN_uc004clu.3_In_Frame_Del_p.614_615EE>E	NM_001128228	NP_001121700	Q4KMQ1	TPRN_HUMAN	Homo sapiens taperin (TPRN), mRNA.	614	Glu-rich.				sensory perception of sound	stereocilium		p.E315delE(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						ctcttcctcttcctcctcctcct	0.596													---	167	---	---	9	---					
NDOR1	27158	broad.mit.edu	37	9	140100743	140100743	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr9:140100743delC	uc004clx.3	+	1	306	c.195delC	c.(193-195)gacfs	p.D65fs	TMEM203_uc004clv.3_5'Flank|NDOR1_uc004clw.3_Frame_Shift_Del_p.D65fs|NDOR1_uc011mes.2_Frame_Shift_Del_p.D65fs|NDOR1_uc004cly.3_Frame_Shift_Del_p.D65fs	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	65	Flavodoxin-like.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCAAGGAGACCCCCCTGACA	0.527													---	2277	---	---	7	---					
SFMBT2	57713	broad.mit.edu	37	10	7212995	7212997	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr10:7212995_7212997delCTC	uc009xio.2	-	19	2528_2530	c.2437_2439delGAG	c.(2437-2439)gagdel	p.E813del	SFMBT2_uc001ijn.2_In_Frame_Del_p.E813del|SFMBT2_uc010qay.2_In_Frame_Del_p.E648del	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	813					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GAACCAGTCTCTCCTCCTCCTCC	0.596													---	1433	---	---	12	---					
ABI1	10006	broad.mit.edu	37	10	27040624	27040626	+	In_Frame_Del	DEL	TGG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr10:27040624_27040626delTGG	uc001isx.3	-	10	1476_1478	c.1252_1254delCCA	c.(1252-1254)ccadel	p.P418del	ABI1_uc001itb.3_In_Frame_Del_p.P406del|ABI1_uc001ite.3_In_Frame_Del_p.P356del|ABI1_uc010qdh.2_In_Frame_Del_p.P298del|ABI1_uc010qdi.2_In_Frame_Del_p.P239del|ABI1_uc001itc.3_In_Frame_Del_p.P390del|ABI1_uc001isy.3_In_Frame_Del_p.P391del|ABI1_uc001itd.3_In_Frame_Del_p.P361del|ABI1_uc010qdj.2_In_Frame_Del_p.P332del|ABI1_uc001ita.3_In_Frame_Del_p.P362del|ABI1_uc010qdk.2_In_Frame_Del_p.P303del|ABI1_uc001isz.3_In_Frame_Del_p.P386del|ABI1_uc010qdg.2_In_Frame_Del_p.P228del	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	Homo sapiens abl-interactor 1 (ABI1), transcript variant 1, mRNA.	418	Pro-rich.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATAATCCACTGGTGGTGGTGGT	0.478													---	491	---	---	7	---					
C10orf68	79741	broad.mit.edu	37	10	33018277	33018277	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr10:33018277delA	uc001iwm.1	+	7	882	c.646delA	c.(646-648)aaafs	p.K216fs	C10orf68_uc001iwl.1_Frame_Shift_Del_p.K248fs|C10orf68_uc001iwn.4_Frame_Shift_Del_p.K240fs|C10orf68_uc010qei.1_Frame_Shift_Del_p.K152fs|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	240										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTTAGAAATCAAAAAAAAGGA	0.323													---	554	---	---	11	---					
ERCC6	2074	broad.mit.edu	37	10	50732139	50732141	+	In_Frame_Del	DEL	CCT	-	-	rs4253047	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr10:50732139_50732141delCCT	uc001jhs.4	-	4	1489_1491	c.1335_1337delAGG	c.(1333-1338)ggaggt>ggt	p.445_446GG>G	ERCC6_uc001jht.3_5'UTR|ERCC6_uc009xoe.3_In_Frame_Del_p.445_446GG>G|ERCC6_uc001jhu.3_In_Frame_Del_p.445_446GG>G	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	445	Gly-rich.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CACTTTCCGACCTCCTCCTCCTC	0.458								Direct reversal of damage;Nucleotide excision repair (NER)					---	1237	---	---	17	---					
A1CF	29974	broad.mit.edu	37	10	52569667	52569669	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr10:52569667_52569669delAGC	uc001jjj.3	-	11	1806_1808	c.1618_1620delGCT	c.(1618-1620)gctdel	p.A540del	A1CF_uc010qho.2_In_Frame_Del_p.A548del|A1CF_uc010qhn.2_In_Frame_Del_p.A540del|A1CF_uc009xov.3_In_Frame_Del_p.A532del|A1CF_uc001jji.3_In_Frame_Del_p.A532del|A1CF_uc001jjh.3_In_Frame_Del_p.A540del	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	540					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGAAagcagtagcagcagcagca	0.512													---	630	---	---	14	---					
PCDH15	65217	broad.mit.edu	37	10	56077158	56077160	+	In_Frame_Del	DEL	GTG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr10:56077158_56077160delGTG	uc010qhy.1	-	8	1157_1159	c.762_764delCAC	c.(760-765)accact>act	p.254_255TT>T	PCDH15_uc010qhq.2_In_Frame_Del_p.254_255TT>T|PCDH15_uc010qhr.2_In_Frame_Del_p.249_250TT>T|PCDH15_uc021pqv.1_In_Frame_Del_p.249_250TT>T|PCDH15_uc021pqw.1_In_Frame_Del_p.254_255TT>T|PCDH15_uc010qht.2_In_Frame_Del_p.249_250TT>T|PCDH15_uc021pqx.1_In_Frame_Del_p.249_250TT>T|PCDH15_uc001jjv.1_In_Frame_Del_p.227_228TT>T|PCDH15_uc021pqy.1_In_Frame_Del_p.249_250TT>T|PCDH15_uc021pqz.1_In_Frame_Del_p.227_228TT>T|PCDH15_uc010qhv.1_In_Frame_Del_p.249_250TT>T|PCDH15_uc010qhw.1_In_Frame_Del_p.212_213TT>T|PCDH15_uc010qhx.1_In_Frame_Del_p.249_250TT>T|PCDH15_uc010qhz.1_In_Frame_Del_p.249_250TT>T|PCDH15_uc010qia.1_In_Frame_Del_p.227_228TT>T|PCDH15_uc001jju.1_In_Frame_Del_p.249_250TT>T|PCDH15_uc010qib.1_In_Frame_Del_p.227_228TT>T|PCDH15_uc001jjw.3_In_Frame_Del_p.249_250TT>T	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	249	Cadherin 2.				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.T250N(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)				CACTGTGAGAGTGGTGGTGGTGG	0.463										HNSCC(58;0.16)			---	1337	---	---	10	---					
ANK3	288	broad.mit.edu	37	10	61828745	61828747	+	In_Frame_Del	DEL	GTG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr10:61828745_61828747delGTG	uc001jky.3	-	36	12230_12232	c.11892_11894delCAC	c.(11890-11895)accact>act	p.3964_3965TT>T	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3964	Thr-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ggtggtggcagtggtggtggtgg	0.498													---	825	---	---	13	---					
ARID5B	84159	broad.mit.edu	37	10	63852298	63852298	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr10:63852298delA	uc001jlt.2	+	9	3532	c.3076delA	c.(3076-3078)aaafs	p.K1026fs	ARID5B_uc001jlu.2_Frame_Shift_Del_p.K783fs	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	1026					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	p.G1025R(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GATTGCAGGGAAAAAGGCCCG	0.607													---	1058	---	---	8	---					
KAT6B	23522	broad.mit.edu	37	10	76735895	76735897	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr10:76735895_76735897delCTC	uc001jwn.1	+	7	2293_2295	c.1800_1802delCTC	c.(1798-1803)cactcc>cac	p.S605del	KAT6B_uc001jwm.1_Intron|KAT6B_uc001jwo.1_Intron|KAT6B_uc001jwp.1_Intron	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	605	Negatively regulates HAT activity.|Poly-Ser.				histone H3 acetylation|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 factor binding|zinc ion binding										TTATTTCTCACTCCTCCTCCTCT	0.424													---	683	---	---	9	---					
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr10:81072446delC	uc001kaf.2	+	24	3716	c.3144delC	c.(3142-3144)gacfs	p.D1048fs	ZMIZ1_uc001kag.2_Frame_Shift_Del_p.D924fs|ZMIZ1_uc010qlq.1_Frame_Shift_Del_p.D114fs	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	1048					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTATCTGGACCCCCCCGACC	0.557													---	1870	---	---	12	---					
KIF20B	9585	broad.mit.edu	37	10	91498335	91498337	+	In_Frame_Del	DEL	AAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr10:91498335_91498337delAAG	uc001kgs.1	+	19	3809_3811	c.3737_3739delAAG	c.(3736-3741)aaagaa>aaa	p.E1251del	KIF20B_uc001kgr.1_In_Frame_Del_p.E1211del|KIF20B_uc001kgt.1_In_Frame_Del_p.E462del|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1251	Poly-Glu.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CTTCAATTAAAAGAAGAAGAAGA	0.276													---	419	---	---	8	---					
HECTD2	143279	broad.mit.edu	37	10	93247481	93247481	+	Frame_Shift_Del	DEL	A	-	-	rs57105282		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr10:93247481delA	uc010qnm.1	+	11	1249	c.1149delA	c.(1147-1149)gcafs	p.A383fs	LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khl.2_Frame_Shift_Del_p.A379fs|HECTD2_uc001khm.2_Non-coding_Transcript|HECTD2_uc009xty.1_Intron|HECTD2_uc001khn.1_Frame_Shift_Del_p.A29fs	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA.	379					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CTGTAGCTGCAAAAAAAATCA	0.318													---	1024	---	---	8	---					
HELLS	3070	broad.mit.edu	37	10	96331163	96331163	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr10:96331163delA	uc009xuo.3	+	6	559	c.454delA	c.(454-456)aaafs	p.K152fs	HELLS_uc001kjs.3_Frame_Shift_Del_p.K136fs|HELLS_uc001kjt.3_Frame_Shift_Del_p.K152fs|HELLS_uc009xul.3_Frame_Shift_Del_p.K152fs|HELLS_uc009xum.3_Frame_Shift_Del_p.K152fs|HELLS_uc009xun.3_Frame_Shift_Del_p.K28fs|HELLS_uc001kju.3_5'UTR|HELLS_uc009xup.3_Non-coding_Transcript|HELLS_uc009xuq.3_Frame_Shift_Del_p.K14fs|HELLS_uc009xur.3_Non-coding_Transcript	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	Homo sapiens helicase, lymphoid-specific (HELLS), mRNA.	152					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GTCTGTGGCTAAAAAAAATAA	0.254													---	447	---	---	9	---					
ABCC2	1244	broad.mit.edu	37	10	101559000	101559000	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr10:101559000delA	uc001kqf.2	+	7	1043	c.904delA	c.(904-906)aaafs	p.K302fs		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	302						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTCTGGGACCAAAAAAGATGT	0.403													---	1499	---	---	7	---					
SCD	6319	broad.mit.edu	37	10	102107836	102107838	+	In_Frame_Del	DEL	ACC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr10:102107836_102107838delACC	uc001kqy.3	+	1	533_535	c.43_45delACC	c.(43-45)accdel	p.T19del		NM_005063	NP_005054	O00767	ACOD_HUMAN	Homo sapiens stearoyl-CoA desaturase (delta-9-desaturase) (SCD), mRNA.	19					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TAGCTCCTATACCACCACCACCA	0.581													---	1171	---	---	8	---					
FAM178A	55719	broad.mit.edu	37	10	102690753	102690753	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr10:102690753delT	uc001krs.3	+	8	2896	c.2354delT	c.(2353-2355)attfs	p.I785fs	FAM178A_uc001krt.4_Frame_Shift_Del_p.I785fs	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	785																	ACAGATCAGATTTTTTTGACA	0.378													---	869	---	---	10	---					
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr10:103919000_103919002delAGC	uc001kup.2	+	5	893_895	c.658_660delAGC	c.(658-660)agcdel	p.S227del	NOLC1_uc001kuo.2_In_Frame_Del_p.S227del|NOLC1_uc001kuq.2_In_Frame_Del_p.S228del|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_5'UTR	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	p.S226N(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517													---	1133	---	---	11	---					
SLK	9748	broad.mit.edu	37	10	105727547	105727549	+	In_Frame_Del	DEL	AGA	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr10:105727547_105727549delAGA	uc001kxo.1	+	0	78_80	c.44_46delAGA	c.(43-48)gagaag>gag	p.K19del	SLK_uc001kxp.1_In_Frame_Del_p.K19del	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	19	Poly-Lys.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTGGGGAGCGAGAAGAAGAAGAA	0.448													---	823	---	---	10	---					
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	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													---	1503	---	---	11	---					
PTPRE	5791	broad.mit.edu	37	10	129876002	129876004	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr10:129876002_129876004delAGC	uc009yat.3	+	19	2297_2299	c.1880_1882delAGC	c.(1879-1884)aagcag>aag	p.Q631del	PTPRE_uc001lkb.3_In_Frame_Del_p.Q620del|PTPRE_uc009yau.2_In_Frame_Del_p.Q620del|PTPRE_uc001lkd.3_In_Frame_Del_p.Q562del|PTPRE_uc010quq.1_In_Frame_Del_p.Q521del	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	620	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GCCGTGCAGAAGCAGCAGCAGCA	0.650													---	662	---	---	9	---					
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:281553_281555delGAG	uc010qvs.2	+	3	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_uc010qvt.2_In_Frame_Del_p.E611del	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.670													---	990	---	---	26	---					
PHRF1	57661	broad.mit.edu	37	11	592586	592588	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:592586_592588delGAG	uc001lqe.3	+	5	663_665	c.532_534delGAG	c.(532-534)gagdel	p.E181del	PHRF1_uc010qwc.2_In_Frame_Del_p.E181del|PHRF1_uc010qwd.2_In_Frame_Del_p.E180del|PHRF1_uc010qwe.2_In_Frame_Del_p.E177del|PHRF1_uc009ybz.1_5'UTR	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	181	Poly-Glu.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAAAGCGAGCGAGGAGGAGGAGG	0.616													---	1265	---	---	10	---					
CDHR5	53841	broad.mit.edu	37	11	618994	618994	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:618994delG	uc001lql.3	-	12	1832	c.1565delC	c.(1564-1566)ccgfs	p.P522fs	IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Frame_Shift_Del_p.P522fs|CDHR5_uc009ycd.3_Frame_Shift_Del_p.P516fs|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Frame_Shift_Del_p.P356fs	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	522					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P522fs*253(1)|p.P521P(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TTCTGCACCCGGGGGCCCCCC	0.677													---	1176	---	---	7	---					
AP2A2	161	broad.mit.edu	37	11	970195	970195	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:970195delA	uc001lst.2	+	2	376	c.163delA	c.(163-165)aaafs	p.K55fs	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Frame_Shift_Del_p.K55fs|AP2A2_uc001lsu.1_5'Flank	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	55	Lipid-binding.				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	p.K57fs*24(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCTATAGTAAAAAAAAGTA	0.488													---	1006	---	---	11	---					
NAP1L4	4676	broad.mit.edu	37	11	2991166	2991167	+	Splice_Site	INS	-	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:2991166_2991167insA	uc010qxm.2	-	8	687	c.403_splice	c.e8-1	p.G135_splice	NAP1L4_uc001lxc.3_Splice_Site_p.G135_splice|NAP1L4_uc010qxn.2_Splice_Site_p.G135_splice	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	135					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CATGTCTCCCTAAAAAAAAGAT	0.416													---	343	---	---	11	---					
FAM160A2	84067	broad.mit.edu	37	11	6244960	6244960	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:6244960delA	uc001mck.4	-	2	1016	c.657delT	c.(655-657)tttfs	p.F219fs	FAM160A2_uc001mcl.4_Frame_Shift_Del_p.F219fs|FAM160A2_uc001mcm.2_Frame_Shift_Del_p.F219fs	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	219					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCGATGCACAAAAGGGACAA	0.617													---	1475	---	---	7	---					
APBB1	322	broad.mit.edu	37	11	6432090	6432092	+	In_Frame_Del	DEL	TCC	-	-	rs145320037		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:6432090_6432092delTCC	uc001mdb.1	-	1	586_588	c.486_488delGGA	c.(484-489)gaggat>gat	p.E162del	APBB1_uc001mdc.1_In_Frame_Del_p.E162del|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	162	Glu-rich.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.E162D(2)|p.E162K(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		atcatcatcatcctcctcctcct	0.635													---	288	---	---	15	---					
RRP8	23378	broad.mit.edu	37	11	6623336	6623338	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:6623336_6623338delTCC	uc001med.3	-	1	355_357	c.207_209delGGA	c.(205-210)gaggaa>gaa	p.69_70EE>E	ILK_uc001mee.3_5'Flank|ILK_uc001mef.3_5'Flank|ILK_uc010rap.2_5'Flank|ILK_uc010raq.2_5'Flank|ILK_uc001meh.3_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	Homo sapiens ribosomal RNA processing 8, methyltransferase, homolog (yeast) (RRP8), mRNA.	69	Poly-Glu.				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	S-adenosylmethionine-dependent methyltransferase activity|methylated histone residue binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CTTCTTCCTTTCCTCCTCCTCCT	0.532													---	555	---	---	12	---					
DCHS1	8642	broad.mit.edu	37	11	6662142	6662142	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:6662142delG	uc001mem.1	-	1	1104	c.703delC	c.(703-705)cggfs	p.R235fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGCCCTCCGGGGGGGTGAA	0.587													---	1069	---	---	8	---					
OR10A5	144124	broad.mit.edu	37	11	6867223	6867225	+	In_Frame_Del	DEL	TTC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:6867223_6867225delTTC	uc001met.1	+	0	310_312	c.310_312delTTC	c.(310-312)ttcdel	p.F108del		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGATGTATTTCTTCTTCTTCT	0.517													---	1038	---	---	21	---					
PSMA1	5682	broad.mit.edu	37	11	14529252	14529254	+	In_Frame_Del	DEL	CAT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:14529252_14529254delCAT	uc001mll.3	-	9	1046_1048	c.701_703delATG	c.(700-705)gatgtg>gtg	p.D234del	PSMA1_uc010rcp.1_Non-coding_Transcript|PSMA1_uc001mlk.3_In_Frame_Del_p.D228del	NM_148976	NP_683877	P25786	PSA1_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 1 (PSMA1), transcript variant 1, mRNA.	228					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	RNA binding|protein binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AATGGAGACACATCATCATCATC	0.360													---	798	---	---	10	---					
KCNA4	3739	broad.mit.edu	37	11	30034029	30034031	+	In_Frame_Del	DEL	TGG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:30034029_30034031delTGG	uc021qfi.1	-	0	195_197	c.195_197delCCA	c.(193-198)caccag>cag	p.H65del	KCNA4_uc001msk.3_In_Frame_Del_p.H65del	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	65	Poly-His.					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.H64R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCCGCGTGACTGGTGGTGGTGGT	0.660													---	607	---	---	10	---					
APIP	51074	broad.mit.edu	37	11	34910341	34910341	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:34910341delT	uc010reo.1	-	4	486	c.334delA	c.(334-336)agcfs	p.S112fs	APIP_uc001mvs.2_Frame_Shift_Del_p.S95fs			Q96GX9	MTNB_HUMAN	Homo sapiens APAF1 interacting protein (APIP), mRNA.	95					L-methionine salvage|apoptosis	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			GTACACTGGCTTTTTTTTAGC	0.343													---	507	---	---	11	---					
PAMR1	25891	broad.mit.edu	37	11	35513670	35513670	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:35513670delC	uc001mwf.3	-	2	345	c.302delG	c.(301-303)ggtfs	p.G101fs	PAMR1_uc001mwg.3_Frame_Shift_Del_p.G101fs|PAMR1_uc010rew.2_Frame_Shift_Del_p.G101fs|PAMR1_uc010rex.2_Frame_Shift_Del_p.G61fs	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ATCCAAGGTACCCCCCCATGA	0.517													---	1923	---	---	10	---					
ARHGAP1	392	broad.mit.edu	37	11	46702224	46702224	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:46702224delG	uc001ndd.3	-	7	778	c.709delC	c.(709-711)ctgfs	p.L237fs		NM_004308	NP_004299	Q07960	RHG01_HUMAN	Homo sapiens Rho GTPase activating protein 1 (ARHGAP1), mRNA.	237					Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TGGTTGGGCAGGGGGGGCCGT	0.642													---	741	---	---	7	---					
CKAP5	9793	broad.mit.edu	37	11	46829683	46829683	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:46829683delT	uc001ndi.2	-	7	1002	c.876delA	c.(874-876)aaafs	p.K292fs	CKAP5_uc009ylg.1_Frame_Shift_Del_p.K178fs|CKAP5_uc001ndj.2_Frame_Shift_Del_p.K292fs	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	292					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCTTGCCATTTTTTTGCCT	0.363													---	1352	---	---	7	---					
OR8I2	120586	broad.mit.edu	37	11	55861308	55861308	+	Frame_Shift_Del	DEL	T	-	-	rs112181516		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:55861308delT	uc010rix.2	+	0	525	c.525delT	c.(523-525)catfs	p.H175fs		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C178fs*2(1)|p.H175fs*10(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCATCAATCATTTTTTTTGTG	0.443													---	1371	---	---	12	---					
OR4D9	390199	broad.mit.edu	37	11	59282479	59282479	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:59282479delT	uc010rkv.2	+	0	94	c.94delT	c.(94-96)tttfs	p.F32fs		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TACCTTCCTGTTTTTGGTGTA	0.428													---	1305	---	---	7	---					
CCDC86	79080	broad.mit.edu	37	11	60610038	60610038	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:60610038delG	uc001nqa.2	+	0	610	c.441delG	c.(439-441)ccgfs	p.P147fs		NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	Homo sapiens coiled-coil domain containing 86 (CCDC86), mRNA.	147	Pro-rich.				interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						AGCTGACCCCGGGGGCCCCCC	0.642													---	622	---	---	7	---					
CPSF7	79869	broad.mit.edu	37	11	61183765	61183767	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:61183765_61183767delAGG	uc001nrq.3	-	5	909_911	c.775_777delCCT	c.(775-777)cctdel	p.P259del	CPSF7_uc001nrp.3_In_Frame_Del_p.P302del|CPSF7_uc001nrr.3_In_Frame_Del_p.P250del|CPSF7_uc001nrs.1_In_Frame_Del_p.P160del	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 7, 59kDa (CPSF7), transcript variant 2, mRNA.	259	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	RNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						AGTGGATACCAGGAGGAGGAGGA	0.611													---	478	---	---	9	---					
SLC3A2	6520	broad.mit.edu	37	11	62649529	62649529	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:62649529delA	uc001nwd.3	+	4	1150	c.892delA	c.(892-894)aaafs	p.K298fs	SLC3A2_uc001nwc.3_Frame_Shift_Del_p.K299fs|SLC3A2_uc001nwf.3_Frame_Shift_Del_p.K236fs|SLC3A2_uc001nwg.3_Frame_Shift_Del_p.K197fs|SLC3A2_uc010rml.1_5'Flank	NM_002394	NP_001013269	P08195	4F2_HUMAN	Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 (SLC3A2), transcript variant 3, mRNA.	298					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	p.K331fs*31(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GCAATCGGCTAAAAAAAAGAG	0.463													---	630	---	---	7	---					
SLC22A9	114571	broad.mit.edu	37	11	63149668	63149669	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:63149668_63149669insA	uc001nww.3	+	5	1260_1261	c.992_993insA	c.(991-993)gcafs	p.A331fs	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	331					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGGAGGCAGCACAAAAAAAAA	0.406													---	961	---	---	9	---					
PPFIA1	8500	broad.mit.edu	37	11	70194407	70194407	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:70194407delC	uc001opo.3	+	15	2259	c.2044delC	c.(2044-2046)cccfs	p.P682fs	PPFIA1_uc001opn.2_Frame_Shift_Del_p.P682fs|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	682					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GAGCTCCATTCCCCCCTACCC	0.557													---	2300	---	---	7	---					
INPPL1	3636	broad.mit.edu	37	11	71948209	71948209	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:71948209delC	uc001osf.3	+	25	3068	c.2921delC	c.(2920-2922)gccfs	p.A974fs	INPPL1_uc001osg.3_Frame_Shift_Del_p.A732fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	974	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding	p.P977fs*7(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGGGTGGCGGCCCCCCCACCC	0.637													---	1103	---	---	8	---					
MRPL48	51642	broad.mit.edu	37	11	73555855	73555857	+	In_Frame_Del	DEL	AAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:73555855_73555857delAAG	uc001ouh.4	+	4	305_307	c.205_207delAAG	c.(205-207)aagdel	p.K72del	MRPL48_uc009ytt.3_5'UTR|MRPL48_uc010rri.2_In_Frame_Del_p.K54del	NM_016055	NP_057139	Q96GC5	RM48_HUMAN	Homo sapiens mitochondrial ribosomal protein L48 (MRPL48), nuclear gene encoding mitochondrial protein, mRNA.	72	Poly-Lys.				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			kidney(1)	1						TCTTCAGCCCAAGAAGAAGAAGG	0.305													---	458	---	---	7	---					
MRE11A	4361	broad.mit.edu	37	11	94153333	94153335	+	In_Frame_Del	DEL	ATC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:94153333_94153335delATC	uc009ywj.2	-	19	2412_2414	c.2092_2094delGAT	c.(2092-2094)gatdel	p.D698del	MRE11A_uc001peu.2_In_Frame_Del_p.D695del|MRE11A_uc001pev.2_In_Frame_Del_p.D667del			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	695			M -> V (in dbSNP:rs1805362).		DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TCATAAAAGGATCATCATCATCA	0.325								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				---	573	---	---	7	---					
CASP5	838	broad.mit.edu	37	11	104874010	104874011	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:104874010_104874011insT	uc010ruz.1	-	3	604_605	c.572_573insA	c.(571-573)aatfs	p.N191fs	CASP5_uc010rva.1_Frame_Shift_Ins_p.N178fs|CASP5_uc010rvb.1_Frame_Shift_Ins_p.N120fs|CASP5_uc010rvc.1_Frame_Shift_Ins_p.N36fs|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.	178					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CCTCATCATGATTTTTTTTACA	0.401													---	1070	---	---	8	---					
DDX10	1662	broad.mit.edu	37	11	108559769	108559769	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:108559769delT	uc001pkm.3	+	6	1020	c.955delT	c.(955-957)tttfs	p.F319fs	DDX10_uc001pkl.1_Frame_Shift_Del_p.F319fs	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	319	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GAGCATTGTATTTTTTTCCAG	0.353			T	NUP98	AML*								---	2120	---	---	9	---					
CD3G	917	broad.mit.edu	37	11	118220583	118220583	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:118220583delA	uc001psu.2	+	2	285	c.205delA	c.(205-207)aaafs	p.K69fs	CD3G_uc009zaa.1_Frame_Shift_Del_p.K9fs	NM_000073	NP_000064	P09693	CD3G_HUMAN	Homo sapiens CD3g molecule, gamma (CD3-TCR complex) (CD3G), mRNA.	69	Ig-like.				T cell activation|T cell costimulation|T cell receptor signaling pathway|establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis	T cell receptor complex|integral to plasma membrane	T cell receptor binding|protein heterodimerization activity|receptor signaling complex scaffold activity|transmembrane receptor activity			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AACTGAAGATAAAAAAAAATG	0.403													---	550	---	---	17	---					
CBL	867	broad.mit.edu	37	11	119149356	119149358	+	In_Frame_Del	DEL	ATG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:119149356_119149358delATG	uc001pwe.3	+	8	1502_1504	c.1364_1366delATG	c.(1363-1368)tatgat>tat	p.D460del		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	460	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_K477del(2)|p.D460del(1)|p.K322_D460del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCCAAATTATGATGATGATGA	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				---	504	---	---	9	---					
PVRL1	5818	broad.mit.edu	37	11	119535678	119535680	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:119535678_119535680delCCT	uc001pwv.3	-	5	1503_1505	c.1331_1333delAGG	c.(1330-1335)gagggc>ggc	p.E444del	PVRL1_uc001pwu.1_Intron	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA.	444	Poly-Glu.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.E444fs*>73(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCCACCGCcctcctcctcctc	0.660													---	209	---	---	12	---					
WNT5B	81029	broad.mit.edu	37	12	1740530	1740532	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:1740530_1740532delCTG	uc009zdq.3	+	1	252_254	c.10_12delCTG	c.(10-12)ctgdel	p.L7del	WNT5B_uc001qjj.3_In_Frame_Del_p.L7del|WNT5B_uc001qjk.3_In_Frame_Del_p.L7del|WNT5B_uc001qjl.3_In_Frame_Del_p.L7del	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	7					Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CATGCCCAGCCTGCTGCTGCTGT	0.601													---	1422	---	---	9	---					
CHD4	1108	broad.mit.edu	37	12	6711546	6711546	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:6711546delT	uc001qpo.3	-	2	382	c.218delA	c.(217-219)aagfs	p.K73fs	CHD4_uc001qpn.3_Frame_Shift_Del_p.K73fs|CHD4_uc001qpp.3_Frame_Shift_Del_p.K70fs	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	73					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ACTCACCTCCTTTTTTTGGCG	0.468													---	1991	---	---	8	---					
C1S	716	broad.mit.edu	37	12	7173239	7173239	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:7173239delA	uc001qsj.3	+	9	1555	c.836delA	c.(835-837)caafs	p.Q279fs	C1S_uc001qsk.3_Frame_Shift_Del_p.Q279fs|C1S_uc001qsl.3_Frame_Shift_Del_p.Q279fs|C1S_uc009zfr.3_Frame_Shift_Del_p.Q112fs|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	279	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	p.W283fs*14(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CTAACAGGGCAAAAAAAGGGC	0.423													---	695	---	---	8	---					
FOXJ2	55810	broad.mit.edu	37	12	8200612	8200614	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:8200612_8200614delCAG	uc001qtu.3	+	6	2037_2039	c.952_954delCAG	c.(952-954)cagdel	p.Q321del	FOXJ2_uc001qtt.1_In_Frame_Del_p.Q321del	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	321	Poly-Gln.				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GTCCCAGCCACAGCAGCAGCAGG	0.635													---	362	---	---	7	---					
PLCZ1	89869	broad.mit.edu	37	12	18841025	18841025	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:18841025delT	uc021qvx.1	-	12	1780	c.1589delA	c.(1588-1590)aatfs	p.N530fs	PLCZ1_uc001rdv.4_Frame_Shift_Del_p.N426fs|PLCZ1_uc001rdw.4_Frame_Shift_Del_p.N271fs|PLCZ1_uc001rdu.1_Frame_Shift_Del_p.N312fs|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	530	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GAGCTCACCATTTTTTTTAAT	0.294													---	636	---	---	7	---					
PLEKHA5	54477	broad.mit.edu	37	12	19514517	19514518	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:19514517_19514518insA	uc001reb.3	+	22	3095_3096	c.2987_2988insA	c.(2986-2988)ttafs	p.L996fs	PLEKHA5_uc010sie.2_Frame_Shift_Ins_p.L1157fs|PLEKHA5_uc001rea.3_Frame_Shift_Ins_p.L1054fs|PLEKHA5_uc009zin.3_Frame_Shift_Ins_p.L754fs|PLEKHA5_uc010sig.2_Frame_Shift_Ins_p.L978fs|PLEKHA5_uc010sih.1_Frame_Shift_Ins_p.L951fs|PLEKHA5_uc021qvy.1_Frame_Shift_Ins_p.L985fs|PLEKHA5_uc001rec.1_Frame_Shift_Ins_p.L805fs|PLEKHA5_uc009zio.3_Frame_Shift_Ins_p.L262fs	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	996							1-phosphatidylinositol binding|protein binding	p.T1160fs*17(1)|p.T999fs*17(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATTCTACAGTTAAAAAAAACTG	0.248													---	258	---	---	7	---					
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:49087434_49087436delATG	uc001rsd.4	-	8	1884_1886	c.1561_1563delCAT	c.(1561-1563)catdel	p.H521del	CCNT1_uc009zkz.2_In_Frame_Del_p.H236del|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	521	His-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGTGATTATGATGATGATGA	0.443													---	2854	---	---	64	---					
KRT77	374454	broad.mit.edu	37	12	53097076	53097078	+	In_Frame_Del	DEL	CCA	-	-	rs149726101		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:53097076_53097078delCCA	uc001saw.3	-	0	170_172	c.141_143delTGG	c.(139-144)ggtgga>gga	p.47_48GG>G	KRT77_uc009zmi.3_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	47	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GATCCCATATCCACCACCACCAC	0.552													---	560	---	---	7	---					
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:55615114_55615116delCTT	uc010spf.2	+	0	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414													---	1335	---	---	18	---					
CEP290	80184	broad.mit.edu	37	12	88524078	88524079	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:88524078_88524079insT	uc001tar.3	-	8	979_980	c.635_636insA	c.(634-636)aacfs	p.N212fs	CEP290_uc001tat.3_5'Flank|CEP290_uc009zsl.1_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	212					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TAAGCTCATAGTTTTTTTTAGA	0.317													---	1230	---	---	8	---					
SYCP3	50511	broad.mit.edu	37	12	102122901	102122901	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:102122901delT	uc001tir.3	-	7	782	c.643delA	c.(643-645)attfs	p.I215fs	CHPT1_uc001tip.1_3'UTR|SYCP3_uc001tiq.3_Frame_Shift_Del_p.I215fs|SYCP3_uc001tis.3_Frame_Shift_Del_p.I215fs	NM_001177949	NP_710161	Q8IZU3	SYCP3_HUMAN	Homo sapiens synaptonemal complex protein 3 (SYCP3), transcript variant 1, mRNA.	215	Gln-rich.				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TCCATCATAATTTTTTTTTGC	0.259													---	251	---	---	10	---					
POP5	51367	broad.mit.edu	37	12	121017154	121017156	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:121017154_121017156delCTC	uc001tys.3	-	4	493_495	c.457_459delGAG	c.(457-459)gagdel	p.E153del	POP5_uc001tyt.3_In_Frame_Del_p.E103del	NM_015918	NP_057002	Q969H6	POP5_HUMAN	Homo sapiens processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) (POP5), transcript variant 1, mRNA.	153					tRNA processing		protein binding|ribonuclease P activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517													---	1100	---	---	9	---					
P2RX7	5027	broad.mit.edu	37	12	121603929	121603929	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:121603929delT	uc001tzm.3	+	6	835	c.683delT	c.(682-684)attfs	p.I228fs	P2RX7_uc001tzn.3_Frame_Shift_Del_p.I138fs|P2RX7_uc001tzo.3_Non-coding_Transcript|P2RX7_uc001tzp.3_5'UTR|P2RX7_uc001tzq.3_Frame_Shift_Del_p.I58fs	NM_002562	NP_002553	A8K2Z0	A8K2Z0_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7), transcript variant 1, mRNA.	228						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGTGTCCCATTTTCCGACTA	0.438													---	1864	---	---	7	---					
HPD	3242	broad.mit.edu	37	12	122281717	122281718	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:122281717_122281718delCT	uc001ubj.3	-	11	892_893	c.852_853delAG	c.(850-855)agaggcfs	p.R284fs	HPD_uc001ubk.3_Frame_Shift_Del_p.R245fs	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	284					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	AACTCCAGGCCTCTCTCTCTCA	0.535													---	525	---	---	7	---					
MPHOSPH9	10198	broad.mit.edu	37	12	123706321	123706322	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:123706321_123706322insA	uc001uel.3	-	0	121_122	c.13_14insT	c.(13-15)tctfs	p.S5fs	MPHOSPH9_uc010tal.2_5'UTR|MPHOSPH9_uc010tam.2_Non-coding_Transcript|MPHOSPH9_uc001uem.3_5'UTR	NM_022782	NP_073619	Q99550	MPP9_HUMAN	Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.	5					M phase of mitotic cell cycle	Golgi membrane|centriole		p.S5C(2)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ACTGCTTAGAGAAAAAAAACCC	0.371													---	578	---	---	8	---					
TMEM132B	114795	broad.mit.edu	37	12	125834096	125834096	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:125834096delT	uc001uhe.1	+	1	159	c.151delT	c.(151-153)tttfs	p.F51fs	TMEM132B_uc021rgl.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	51						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGAGGAGTCCTTTTTCCTTAA	0.527													---	1426	---	---	9	---					
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr13:20041394delA	uc001umd.3	-	7	694	c.483delT	c.(481-483)tttfs	p.F161fs	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	161						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303													---	548	---	---	24	---					
WASF3	10810	broad.mit.edu	37	13	27250862	27250863	+	Splice_Site	DEL	GT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr13:27250862_27250863delGT	uc001uqv.3	+	7	941	c.716_splice	c.e7+1	p.R239_splice	WASF3_uc001uqw.3_Intron	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	239					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CAGATACTAGGTGTGTGTGTGT	0.475													---	708	---	---	8	---					
GSX1	219409	broad.mit.edu	37	13	28367927	28367929	+	In_Frame_Del	DEL	GGC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr13:28367927_28367929delGGC	uc001urr.1	+	1	685_687	c.637_639delGGC	c.(637-639)ggcdel	p.G218del		NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	Homo sapiens GS homeobox 1 (GSX1), mRNA.	218	Poly-Gly.				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CAACCATCgtggcggcggcggcg	0.631													---	461	---	---	12	---					
B3GALTL	145173	broad.mit.edu	37	13	31803392	31803392	+	Frame_Shift_Del	DEL	A	-	-	rs141154947		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr13:31803392delA	uc010aaz.3	+	3	341	c.231delA	c.(229-231)ttafs	p.L77fs		NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	Homo sapiens beta 1,3-galactosyltransferase-like (B3GALTL), mRNA.	77					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CAGAGCAGTTAAAAAAAAGCA	0.373													---	493	---	---	8	---					
DKFZp666K117	0	broad.mit.edu	37	13	32527507	32527508	+	RNA	DEL	GT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr13:32527507_32527508delGT	uc001utu.2	+	3		c.1265_1266delGT			DKFZp666K117_uc010tdv.2_Intron|DKFZp666K117_uc001utv.3_Non-coding_Transcript					Homo sapiens eukaryotic translation elongation factor 1 delta pseudogene 3 (EEF1DP3), non-coding RNA.																		TCTGGCCTGAGTGTGTGTGTGT	0.460													---	408	---	---	11	---					
ZC3H13	23091	broad.mit.edu	37	13	46542016	46542017	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr13:46542016_46542017delCT	uc010tfw.1	-	13	3949_3950	c.3943_3944delAG	c.(3943-3945)aggfs	p.R1315fs	ZC3H13_uc001vaq.2_5'UTR|ZC3H13_uc001vas.1_Frame_Shift_Del_p.R1315fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	1315							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		cgtatctctcctctctctctcg	0.495													---	628	---	---	14	---					
SLAIN1	122060	broad.mit.edu	37	13	78320722	78320722	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr13:78320722delA	uc010thy.1	+	3	541	c.498delA	c.(496-498)ggafs	p.G166fs	SLAIN1_uc001vkk.2_Frame_Shift_Del_p.G89fs|SLAIN1_uc010thz.1_Frame_Shift_Del_p.G44fs|SLAIN1_uc001vkl.1_Frame_Shift_Del_p.G45fs|SLAIN1_uc010aex.1_Intron|SLAIN1_uc010aey.1_Intron|SLAIN1_uc001vkm.2_Frame_Shift_Del_p.G45fs	NM_001040153	NP_653196	Q8ND83	SLAI1_HUMAN	Homo sapiens SLAIN motif family, member 1 (SLAIN1), transcript variant 1, mRNA.	308										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TGAGTTCAGGAAAAAAAGGGA	0.388													---	784	---	---	9	---					
SLITRK5	26050	broad.mit.edu	37	13	88329794	88329796	+	In_Frame_Del	DEL	CGG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr13:88329794_88329796delCGG	uc001vln.3	+	1	2370_2372	c.2151_2153delCGG	c.(2149-2154)tacggc>tac	p.G722del	SLITRK5_uc010tic.1_In_Frame_Del_p.G481del|SLITRK5_uc021rlc.1_In_Frame_Del_p.G722del	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	722						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAGCGTGTACGGCGGCGGCGGC	0.645													---	532	---	---	7	---					
ARGLU1	55082	broad.mit.edu	37	13	107219953	107219955	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr13:107219953_107219955delCTC	uc001vqk.4	-	0	560_562	c.313_315delGAG	c.(313-315)gagdel	p.E105del		NM_018011	NP_060481	Q9NWB6	ARGL1_HUMAN	Homo sapiens arginine and glutamate rich 1 (ARGLU1), mRNA.	105	Glu-rich.									large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CCGCTTTCTTCTCCTCCTCCTCT	0.714													---	952	---	---	7	---					
OR4L1	122742	broad.mit.edu	37	14	20528881	20528881	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:20528881delA	uc001vwn.1	+	0	678	c.678delA	c.(676-678)ccafs	p.P226fs		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCAGTGTACCAAAAAAATCAT	0.438													---	1117	---	---	8	---					
RNASE7	84659	broad.mit.edu	37	14	21511566	21511566	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:21511566delA	uc021rou.1	+	0	415	c.415delA	c.(415-417)aaafs	p.K139fs	NDRG2_uc010tll.2_Intron|RNASE7_uc001vzk.4_Frame_Shift_Del_p.K139fs|RNASE7_uc001vzl.2_Non-coding_Transcript	NM_032572	NP_115961	Q9H1E1	RNAS7_HUMAN	Homo sapiens ribonuclease, RNase A family, 7 (RNASE7), mRNA.	139					defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.Q138R(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GCCTCCCCAGAAAAAGGACTC	0.502													---	1078	---	---	8	---					
SALL2	6297	broad.mit.edu	37	14	21991334	21991336	+	In_Frame_Del	DEL	GGT	-	-	rs113881459		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:21991334_21991336delGGT	uc001wbe.3	-	1	2808_2810	c.2526_2528delACC	c.(2524-2529)ccacct>cct	p.842_843PP>P	SALL2_uc010tly.2_In_Frame_Del_p.840_841PP>P|SALL2_uc010tlz.1_In_Frame_Del_p.705_706PP>P|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_In_Frame_Del_p.707_708PP>P|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	842	Poly-Pro.						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CAGGCTGTCAGGTGGTGGTGGTG	0.571													---	577	---	---	9	---					
MMP14	4323	broad.mit.edu	37	14	23312996	23312996	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:23312996delA	uc001whc.3	+	5	1162	c.928delA	c.(928-930)aaafs	p.K310fs		NM_004995	NP_004986	P50281	MMP14_HUMAN	Homo sapiens matrix metallopeptidase 14 (membrane-inserted) (MMP14), mRNA.	310						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TGATAAACCCAAAAACCCCAC	0.577													---	1320	---	---	8	---					
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:23341527_23341529delCCT	uc001whd.3	+	0	568_570	c.15_17delCCT	c.(13-18)accctc>acc	p.L11del	LRP10_uc001whe.3_5'Flank	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	11					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.670													---	802	---	---	33	---					
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:23845057_23845058delTG	uc001wjr.3	+	1	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	IL25_uc001wjq.3_Frame_Shift_Del_p.C152fs|CMTM5_uc010akn.3_5'Flank|CMTM5_uc001wju.3_5'Flank|CMTM5_uc010ako.3_5'Flank|CMTM5_uc001wjs.3_5'Flank|CMTM5_uc001wjt.3_5'Flank|CMTM5_uc010akm.3_5'Flank	NM_022789	NP_073626	Q9H293	IL25_HUMAN	Homo sapiens interleukin 25 (IL25), transcript variant 1, mRNA.	168					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604													---	1090	---	---	12	---					
LRRC16B	90668	broad.mit.edu	37	14	24532702	24532703	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:24532702_24532703insC	uc001wlj.2	+	30	3096_3097	c.2939_2940insC	c.(2938-2940)cgcfs	p.R980fs	LRRC16B_uc001wlk.2_Frame_Shift_Ins_p.R76fs	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	980										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGGAGGCCCCGCCCCCCCAGGA	0.594													---	675	---	---	7	---					
REC8	9985	broad.mit.edu	37	14	24646921	24646921	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:24646921delC	uc001wmr.3	+	11	1245	c.818delC	c.(817-819)accfs	p.T273fs	REC8_uc001wms.3_Frame_Shift_Del_p.T273fs	NM_005132	NP_005123	O95072	REC8_HUMAN	Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA.	274	Glu-rich.|Pro-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GCAGAGGTGACCCCCCCGGAG	0.612													---	650	---	---	7	---					
ADCY4	196883	broad.mit.edu	37	14	24803757	24803759	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:24803757_24803759delCAG	uc001wow.3	-	0	519_521	c.100_102delCTG	c.(100-102)ctgdel	p.L34del	ADCY4_uc010toh.2_5'UTR|ADCY4_uc001wox.3_In_Frame_Del_p.L34del|ADCY4_uc001woy.3_In_Frame_Del_p.L34del|ADCY4_uc001woz.4_In_Frame_Del_p.L34del	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	34					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCACGATCCCCAGCAGCAGCAGC	0.700													---	67	---	---	7	---					
FANCM	57697	broad.mit.edu	37	14	45642288	45642289	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:45642288_45642289delCT	uc001wwd.4	+	12	2290_2291	c.2191_2192delCT	c.(2191-2193)ctcfs	p.L731fs	FANCM_uc010anf.3_Frame_Shift_Del_p.L705fs|FANCM_uc001wwe.4_Frame_Shift_Del_p.L267fs|FANCM_uc010ang.3_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	731					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATTCATCAACTCTCTCTCTCT	0.347								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				---	691	---	---	13	---					
FANCM	57697	broad.mit.edu	37	14	45645955	45645955	+	Frame_Shift_Del	DEL	A	-	-	rs143681767		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:45645955delA	uc001wwd.4	+	13	4097	c.3998delA	c.(3997-3999)caafs	p.Q1333fs	FANCM_uc010anf.3_Frame_Shift_Del_p.Q1307fs|FANCM_uc001wwe.4_Frame_Shift_Del_p.Q869fs|FANCM_uc010ang.3_Frame_Shift_Del_p.Q547fs	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1333					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTACCAGTGCAAAAAAAAGTT	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				---	390	---	---	8	---					
OTX2	5015	broad.mit.edu	37	14	57271049	57271049	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:57271049delG	uc001xcq.3	-	3	404	c.130delC	c.(130-132)cggfs	p.R44fs	OTX2_uc001xcp.3_Frame_Shift_Del_p.R36fs|OTX2_uc021rtm.1_Intron|OTX2_uc010aou.3_Frame_Shift_Del_p.R36fs	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	36					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding	p.R44fs*52(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CGCTGTTTCCGGGGGGTGGCT	0.632													---	456	---	---	7	---					
C14orf39	317761	broad.mit.edu	37	14	60903565	60903565	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:60903565delA	uc001xez.4	-	17	1872	c.1762delT	c.(1762-1764)tgafs	p.*588fs	C14orf39_uc010apo.3_Frame_Shift_Del_p.*299fs	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	0								p.*588fs?(4)|p.F587F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TGACTAGCTCAAAAAAAAGTA	0.289													---	800	---	---	10	---					
SYNE2	23224	broad.mit.edu	37	14	64488704	64488704	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:64488704delA	uc001xgl.3	+	36	5712	c.5482delA	c.(5482-5484)aaafs	p.K1828fs	SYNE2_uc001xgm.3_Frame_Shift_Del_p.K1828fs|SYNE2_uc021ruh.1_Frame_Shift_Del_p.K1828fs	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1828					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTTAATACCAAAAAAAGTGT	0.318													---	861	---	---	9	---					
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:72190482_72190484delTCC	uc001xms.3	+	15	4751_4753	c.4390_4392delTCC	c.(4390-4392)tccdel	p.S1468del	SIPA1L1_uc001xmt.3_In_Frame_Del_p.S1447del|SIPA1L1_uc001xmu.3_In_Frame_Del_p.S1447del|SIPA1L1_uc001xmv.3_In_Frame_Del_p.S1468del|SIPA1L1_uc010ttm.2_In_Frame_Del_p.S922del	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1468	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552													---	1182	---	---	25	---					
MLH3	27030	broad.mit.edu	37	14	75514338	75514338	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:75514338delT	uc001xrd.1	-	1	2237	c.2021delA	c.(2020-2022)aatfs	p.N674fs	MLH3_uc001xre.1_Frame_Shift_Del_p.N674fs|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	674					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CGTTCTGCAATTTTTTTTGTT	0.348								Mismatch excision repair (MMR)					---	617	---	---	8	---					
FLVCR2	55640	broad.mit.edu	37	14	76112753	76112755	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:76112753_76112755delGAG	uc001xrs.2	+	9	1895_1897	c.1519_1521delGAG	c.(1519-1521)gagdel	p.E511del	FLVCR2_uc010tvd.1_In_Frame_Del_p.E306del	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor family, member 2 (FLVCR2), transcript variant 1, mRNA.	511	Poly-Glu.				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GAAACTCCAAGAGGAGGAGGAGG	0.542													---	524	---	---	10	---					
BTBD7	55727	broad.mit.edu	37	14	93720048	93720048	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:93720048delT	uc001ybo.3	-	6	2023	c.1697delA	c.(1696-1698)aatfs	p.N566fs	BTBD7_uc010aur.3_Frame_Shift_Del_p.N91fs|BTBD7_uc010two.2_Frame_Shift_Del_p.N386fs|BTBD7_uc001ybp.3_Frame_Shift_Del_p.N215fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	566										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)		GATGCCAGCATTTTTTTGCCG	0.388													---	1107	---	---	10	---					
BTBD7	55727	broad.mit.edu	37	14	93761193	93761193	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:93761193delT	uc001ybo.3	-	2	499	c.173delA	c.(172-174)aagfs	p.K58fs	BTBD7_uc010aur.3_5'UTR|BTBD7_uc010two.2_5'UTR|BTBD7_uc001ybp.3_Intron|BTBD7_uc001ybq.4_5'UTR|BTBD7_uc001ybr.3_Frame_Shift_Del_p.K58fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	58								p.K58fs*44(3)|p.R59fs*14(2)		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)		AGAGGTTCTCTTTTTTTTGTC	0.438													---	1120	---	---	17	---					
DDX24	57062	broad.mit.edu	37	14	94517596	94517598	+	In_Frame_Del	DEL	TCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:94517596_94517598delTCT	uc001ycj.3	-	8	2618_2620	c.2519_2521delAGA	c.(2518-2523)aagaca>aca	p.K840del	DDX24_uc010twq.2_In_Frame_Del_p.K797del|DDX24_uc010twr.2_In_Frame_Del_p.K590del	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	840	Poly-Lys.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GGCTTCTTTGTCTTCTTCTTCTT	0.512											OREG0022891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	742	---	---	10	---					
CCNK	8812	broad.mit.edu	37	14	99969244	99969246	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:99969244_99969246delCAG	uc001ygi.4	+	7	1064_1066	c.934_936delCAG	c.(934-936)cagdel	p.Q315del		NM_001099402	NP_001092872	O75909	CCNK_HUMAN	Homo sapiens cyclin K (CCNK), mRNA.	315	Poly-Gln.				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				GCAACCAGCCCAGCAGCAGCAGC	0.621													---	942	---	---	11	---					
BEGAIN	57596	broad.mit.edu	37	14	101005271	101005273	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:101005271_101005273delCCT	uc010txa.2	-	5	961_963	c.815_817delAGG	c.(814-819)gaggcc>gcc	p.E272del	BEGAIN_uc001yhp.3_In_Frame_Del_p.E208del|BEGAIN_uc001yhq.3_In_Frame_Del_p.E272del	NM_001159531	NP_065887	Q9BUH8	BEGIN_HUMAN	Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA.	272						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCCGCCTCGGCCTCCTCCTCCTC	0.724													---	186	---	---	13	---					
abParts	0	broad.mit.edu	37	14	106691799	106691801	+	RNA	DEL	ACT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:106691799_106691801delACT	uc021ser.1	-	1156		c.25192_25194delAGT								Parts of antibodies, mostly variable regions.																		AGTATATGTAACTACTACTACTA	0.517													---	2127	---	---	10	---					
UBE3A	7337	broad.mit.edu	37	15	25601871	25601871	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:25601871delT	uc001zaq.3	-	8	2695	c.1935delA	c.(1933-1935)aaafs	p.K645fs	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Frame_Shift_Del_p.K622fs|UBE3A_uc001zas.3_Frame_Shift_Del_p.K642fs|UBE3A_uc001zat.3_Frame_Shift_Del_p.K622fs	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	645					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GAAAAGTTCCTTTTTTCCCCA	0.338													---	1654	---	---	8	---					
OCA2	4948	broad.mit.edu	37	15	28200305	28200305	+	Splice_Site	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:28200305delT	uc001zbh.4	-	17	1952	c.1842_splice	c.e17+1	p.K614_splice	OCA2_uc010ayv.3_Splice_Site_p.K590_splice	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	614			K -> E (in OCA2).|K -> N (in OCA2).		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTGGGTACCTTTTTTTGGAG	0.443									Oculocutaneous Albinism				---	1104	---	---	12	---					
FAN1	22909	broad.mit.edu	37	15	31196894	31196894	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:31196894delA	uc001zff.3	+	1	319	c.28delA	c.(28-30)aaafs	p.K10fs	FAN1_uc001zfc.3_Frame_Shift_Del_p.K10fs|FAN1_uc010azw.2_Frame_Shift_Del_p.K10fs|FAN1_uc001zfd.3_Frame_Shift_Del_p.K10fs|FAN1_uc001zfe.3_5'UTR	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.	10					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTCCTGACAAAAAAAGGCC	0.353								Direct reversal of damage					---	862	---	---	8	---					
RYR3	6263	broad.mit.edu	37	15	33962735	33962737	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:33962735_33962737delGGA	uc001zhi.3	+	37	5908_5910	c.5838_5840delGGA	c.(5836-5841)acggag>acg	p.E1950del	RYR3_uc010bar.3_In_Frame_Del_p.E1950del	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1950	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.T1946T(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGCAGCCGACGGAGGAGGAGGAG	0.453													---	860	---	---	7	---					
EIF2AK4	440275	broad.mit.edu	37	15	40282508	40282508	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:40282508delT	uc001zkm.1	+	15	2611	c.2561delT	c.(2560-2562)attfs	p.I854fs	EIF2AK4_uc010bbj.1_Frame_Shift_Del_p.I555fs|EIF2AK4_uc001zkn.1_5'Flank	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	854	Protein kinase 2.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCTGTCAACATTTTTTTGGAT	0.358													---	1978	---	---	8	---					
OIP5	11339	broad.mit.edu	37	15	41624705	41624705	+	Frame_Shift_Del	DEL	C	-	-	rs142464462		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:41624705delC	uc001znp.3	-	0	115	c.55delG	c.(55-57)gacfs	p.D19fs	NUSAP1_uc001znr.4_5'Flank|NUSAP1_uc001zns.4_5'Flank|NUSAP1_uc001znt.4_5'Flank|NUSAP1_uc001znv.4_5'Flank|NUSAP1_uc010ucw.2_5'Flank|NUSAP1_uc010bce.3_5'Flank|NUSAP1_uc001znu.4_5'Flank	NM_007280	NP_009211	O43482	MS18B_HUMAN	Homo sapiens Opa interacting protein 5 (OIP5), mRNA.	19					CenH3-containing nucleosome assembly at centromere|cell communication|cell division|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding			endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CCACAAAAGTCCCCCCGGGGC	0.657													---	1163	---	---	7	---					
ADAL	161823	broad.mit.edu	37	15	43641115	43641115	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:43641115delA	uc010udo.2	+	9	1137	c.563delA	c.(562-564)caafs	p.Q188fs	ADAL_uc001zrh.3_Frame_Shift_Del_p.Q215fs|ADAL_uc001zri.2_Frame_Shift_Del_p.Q100fs	NM_001159280	NP_001152752	Q6DHV7	ADAL_HUMAN	Homo sapiens adenosine deaminase-like (ADAL), transcript variant 1, mRNA.	215					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		ATTCCAAACCAAAAAAAAGAA	0.453													---	615	---	---	10	---					
CTDSPL2	51496	broad.mit.edu	37	15	44778873	44778874	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:44778873_44778874insT	uc001ztr.3	+	3	866_867	c.450_451insT	c.(448-453)aactttfs	p.N150fs	CTDSPL2_uc001zts.3_Frame_Shift_Ins_p.N150fs|CTDSPL2_uc001ztt.3_Frame_Shift_Ins_p.N150fs|CTDSPL2_uc010bdv.3_Frame_Shift_Ins_p.N150fs	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 (CTDSPL2), mRNA.	150							phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		CTGTCTTCAACTTTTTTTCACC	0.297													---	1034	---	---	7	---					
CCPG1	9236	broad.mit.edu	37	15	55651780	55651781	+	Frame_Shift_Del	DEL	TA	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:55651780_55651781delTA	uc010bfk.2	-	7	2489_2490	c.2190_2191delTA	c.(2188-2193)tatagafs	p.Y730fs	CCPG1_uc002acy.3_Frame_Shift_Del_p.Y730fs|CCPG1_uc002acu.2_Frame_Shift_Del_p.Y586fs|CCPG1_uc002acz.2_Frame_Shift_Del_p.Y730fs|CCPG1_uc002acw.2_Frame_Shift_Del_p.Y455fs|CCPG1_uc002acx.3_Frame_Shift_Del_p.Y347fs|CCPG1_uc002acv.2_Frame_Shift_Del_p.Y730fs|CCPG1_uc021smu.1_Frame_Shift_Del_p.Y350fs	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN	Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.	730					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AAGAAGTGTCTATATATATATT	0.332													---	290	---	---	9	---					
VPS13C	54832	broad.mit.edu	37	15	62244050	62244050	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:62244050delT	uc002agz.3	-	38	4520	c.4429delA	c.(4429-4431)attfs	p.I1477fs	VPS13C_uc002aha.3_Frame_Shift_Del_p.I1434fs|VPS13C_uc002ahb.2_Frame_Shift_Del_p.I1477fs|VPS13C_uc002ahc.2_Frame_Shift_Del_p.I1434fs	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1477					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGCATACTAATTTTTTTTAGA	0.333													---	387	---	---	9	---					
SLC24A1	9187	broad.mit.edu	37	15	65943128	65943130	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:65943128_65943130delGAG	uc010ujf.2	+	6	2928_2930	c.2641_2643delGAG	c.(2641-2643)gagdel	p.E890del	SLC24A1_uc010ujd.1_In_Frame_Del_p.E872del|SLC24A1_uc010uje.1_In_Frame_Del_p.E872del|SLC24A1_uc010ujg.2_In_Frame_Del_p.E890del|SLC24A1_uc010ujh.2_In_Frame_Del_p.E872del|SLC24A1_uc010uji.2_In_Frame_Del_p.E217del	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	890	Poly-Glu.				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						gcaggaggaagaggaggaggagg	0.562													---	237	---	---	14	---					
ADPGK	83440	broad.mit.edu	37	15	73044826	73044827	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:73044826_73044827insT	uc002avg.4	-	6	1443_1444	c.1349_1350insA	c.(1348-1350)aagfs	p.K450fs	ADPGK_uc002ave.4_Frame_Shift_Ins_p.K175fs|ADPGK_uc010ukw.2_Frame_Shift_Ins_p.K392fs|ADPGK_uc002avf.4_Frame_Shift_Ins_p.K449fs|ADPGK_uc002avi.4_Frame_Shift_Ins_p.K327fs|ADPGK_uc002avh.4_Frame_Shift_Ins_p.K211fs	NM_031284	NP_112574	Q9BRR6	ADPGK_HUMAN	Homo sapiens ADP-dependent glucokinase (ADPGK), transcript variant 1, mRNA.	450	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						CTACTACTGGCTTGTTTGGGTT	0.490													---	1236	---	---	8	---					
CPLX3	594855	broad.mit.edu	37	15	75122558	75122560	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	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													---	717	---	---	14	---					
GOLGA6C	653641	broad.mit.edu	37	15	75562489	75562489	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:75562489delC	uc002azs.2	+	17	2072	c.2031delC	c.(2029-2031)aacfs	p.N677fs	DQ582071_uc002azu.1_5'Flank|DQ577530_uc010ulz.1_5'Flank	NM_001164404	NP_001157876	A6NDK9	GOG6C_HUMAN	Homo sapiens golgin A6 family, member C (GOLGA6C), mRNA.	677										ovary(1)	1						CCCATGACAACCCCCCGGTAC	0.602													---	1252	---	---	7	---					
IREB2	3658	broad.mit.edu	37	15	78755395	78755395	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:78755395delT	uc002bdr.2	+	2	400	c.238delT	c.(238-240)tttfs	p.F80fs	IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.3_Frame_Shift_Del_p.F80fs	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	80							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGAAGTGCCCTTTTTCCCTGC	0.358													---	1425	---	---	7	---					
MESDC2	23184	broad.mit.edu	37	15	81282062	81282064	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:81282062_81282064delAGC	uc002bfy.1	-	0	142_144	c.69_71delGCT	c.(67-72)ctgcta>cta	p.23_24LL>L	MESDC2_uc002bfx.3_Non-coding_Transcript|MESDC2_uc010uno.2_Non-coding_Transcript	NM_015154	NP_055969	Q14696	MESD_HUMAN	Homo sapiens mesoderm development candidate 2 (MESDC2), mRNA.	23	Chaperone domain (By similarity).				Wnt receptor signaling pathway|mesoderm development|protein folding	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						TGGTagcagtagcagcagcagca	0.675													---	251	---	---	7	---					
IL16	3603	broad.mit.edu	37	15	81592162	81592164	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:81592162_81592164delCCT	uc021ssh.1	+	12	2596_2598	c.2495_2497delCCT	c.(2494-2499)gcctcc>gcc	p.S838del	IL16_uc010blq.1_In_Frame_Del_p.S792del|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_In_Frame_Del_p.S880del|IL16_uc002bgg.3_In_Frame_Del_p.S838del|IL16_uc002bgi.1_In_Frame_Del_p.S228del|IL16_uc002bgj.3_In_Frame_Del_p.S332del|IL16_uc021ssi.1_In_Frame_Del_p.S137del|IL16_uc002bgl.1_In_Frame_Del_p.S137del|IL16_uc010unq.1_In_Frame_Del_p.S137del	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	838					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.S792delS(1)|p.S838delS(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CACATCCGGGcctcctcctcctc	0.586													---	373	---	---	8	---					
MFGE8	4240	broad.mit.edu	37	15	89453139	89453139	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:89453139delT	uc002bng.4	-	1	202	c.89delA	c.(88-90)aacfs	p.N30fs	MFGE8_uc002bnf.4_5'UTR|MFGE8_uc002bnh.4_Frame_Shift_Del_p.N30fs|MFGE8_uc010bnn.3_Frame_Shift_Del_p.N22fs|MFGE8_uc010upq.2_Intron|MFGE8_uc010bno.3_Intron	NM_005928	NP_005919	Q08431	MFGM_HUMAN	Homo sapiens milk fat globule-EGF factor 8 protein (MFGE8), transcript variant 1, mRNA.	30	EGF-like.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			p.N30T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					GTGGCAGGGGTTTTTGGAACA	0.547													---	1079	---	---	7	---					
IQGAP1	8826	broad.mit.edu	37	15	91019925	91019925	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:91019925delA	uc002bpl.1	+	23	2916	c.2815delA	c.(2815-2817)aaafs	p.K939fs		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	939					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAACTTACCAAAAAAAATAA	0.363													---	900	---	---	8	---					
MAN2A2	4122	broad.mit.edu	37	15	91462881	91462881	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:91462881delT	uc010bnz.2	+	22	3432	c.3317delT	c.(3316-3318)cttfs	p.L1106fs	MAN2A2_uc002bqc.3_Frame_Shift_Del_p.L1106fs|MAN2A2_uc010uql.2_Frame_Shift_Del_p.L768fs|MAN2A2_uc010uqm.2_Frame_Shift_Del_p.L685fs|MAN2A2_uc010uqn.1_Non-coding_Transcript	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	1106					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTGGGCAGCCTTTTCCATGGC	0.547													---	2372	---	---	8	---					
WDR90	197335	broad.mit.edu	37	16	709106	709106	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:709106delC	uc002cii.1	+	24	3086	c.3032delC	c.(3031-3033)gccfs	p.A1011fs	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Frame_Shift_Del_p.A538fs|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cim.1_Frame_Shift_Del_p.A185fs|WDR90_uc002cin.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1011										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TTCCCCGGGGCCCCCCCAGCC	0.657													---	816	---	---	8	---					
C16orf79	283870	broad.mit.edu	37	16	2260586	2260588	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:2260586_2260588delCAG	uc010bsh.3	-	1	350_352	c.115_117delCTG	c.(115-117)ctgdel	p.L39del	C16orf79_uc002cpi.2_In_Frame_Del_p.L39del	NM_182563	NP_872369	Q6PL45	CP079_HUMAN	Homo sapiens chromosome 16 open reading frame 79 (C16orf79), mRNA.	39	Poly-Leu.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						CGGCcagcaccagcagcagcagc	0.660													---	270	---	---	8	---					
C16orf71	146562	broad.mit.edu	37	16	4796953	4796955	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:4796953_4796955delGAG	uc002cxn.3	+	7	1669_1671	c.1207_1209delGAG	c.(1207-1209)gagdel	p.E409del		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA.	409								p.E403delE(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CTCTGACAGTGAGGAGGAGGAGG	0.611													---	120	---	---	7	---					
MKL2	57496	broad.mit.edu	37	16	14334253	14334255	+	In_Frame_Del	DEL	CAG	-	-	rs146244364		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:14334253_14334255delCAG	uc010uza.2	+	9	1146_1148	c.991_993delCAG	c.(991-993)cagdel	p.Q334del	MKL2_uc002dcg.3_In_Frame_Del_p.Q334del|MKL2_uc002dch.3_In_Frame_Del_p.Q323del|MKL2_uc010uzb.2_In_Frame_Del_p.Q283del	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	323					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCGCCTGCTCCAGCAGCAGCAGC	0.542													---	863	---	---	8	---					
C16orf62	57020	broad.mit.edu	37	16	19580800	19580802	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	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													---	601	---	---	18	---					
RBBP6	5930	broad.mit.edu	37	16	24583566	24583568	+	In_Frame_Del	DEL	AAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:24583566_24583568delAAG	uc002dmh.3	+	17	6219_6221	c.5179_5181delAAG	c.(5179-5181)aagdel	p.K1733del	RBBP6_uc002dmi.3_In_Frame_Del_p.K1699del|RBBP6_uc010bxr.3_In_Frame_Del_p.K893del|RBBP6_uc002dmk.3_In_Frame_Del_p.K1566del|DQ573285_uc021tfm.1_5'Flank	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1733					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		tcaggacagcaagaagaagaaga	0.473													---	272	---	---	10	---					
RABEP2	79874	broad.mit.edu	37	16	28931200	28931202	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:28931200_28931202delCTG	uc002drq.3	-	2	385_387	c.337_339delCAG	c.(337-339)cagdel	p.Q113del	NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_In_Frame_Del_p.Q42del|RABEP2_uc010byn.3_In_Frame_Del_p.Q113del|RABEP2_uc002drr.3_In_Frame_Del_p.Q113del	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA.	113	Poly-Gln.				endocytosis|protein transport	early endosome	GTPase activator activity|growth factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCTCACAGTCCTGCTGCTGCTGC	0.640													---	507	---	---	10	---					
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:30365550_30365552delCAT	uc002dxr.3	-	1	423_425	c.170_172delATG	c.(169-174)gatggg>ggg	p.D57del	CD2BP2_uc002dxs.3_In_Frame_Del_p.D57del	NM_001243646	NP_001230575	O95400	CD2B2_HUMAN	Homo sapiens CD2 (cytoplasmic tail) binding protein 2 (CD2BP2), transcript variant 2, mRNA.	57					assembly of spliceosomal tri-snRNP	U5 snRNP|cytoplasm|nucleoplasm	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532													---	2524	---	---	8	---					
CHD9	80205	broad.mit.edu	37	16	53358038	53358040	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:53358038_53358040delCAG	uc002ehb.3	+	37	8089_8091	c.7925_7927delCAG	c.(7924-7929)acagca>aca	p.A2648del	CHD9_uc002egy.3_In_Frame_Del_p.A2632del|CHD9_uc002ehc.3_In_Frame_Del_p.A2633del|CHD9_uc002ehf.3_In_Frame_Del_p.A1746del|CHD9_uc002ehg.2_In_Frame_Del_p.A1763del|CHD9_uc010cbw.3_In_Frame_Del_p.A714del	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2648	Poly-Ala.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCAAAGGCCACAGCAGCAGCAGC	0.512													---	1236	---	---	8	---					
CCDC135	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:57731885_57731887delGGA	uc002emi.3	+	1	113_115	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	CCDC135_uc002emj.3_In_Frame_Del_p.E13del|CCDC135_uc002emk.3_In_Frame_Del_p.E13del	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	13						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591													---	759	---	---	24	---					
CMTM1	113540	broad.mit.edu	37	16	66603929	66603930	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:66603929_66603930insT	uc002epr.4	+	1	590_591	c.523_524insT	c.(523-525)gttfs	p.V175fs	CMTM1_uc021tjs.1_Intron|CMTM1_uc021tjt.1_Intron|CMTM1_uc021tju.1_Intron|CMTM1_uc002eph.4_Frame_Shift_Ins_p.V58fs|CMTM1_uc002epi.4_Frame_Shift_Ins_p.V58fs|CMTM1_uc002epl.4_Intron|CMTM1_uc002epj.4_Intron|CMTM1_uc002epk.4_Intron|CMTM1_uc002epa.4_Intron|CMTM1_uc002epb.4_Non-coding_Transcript|CMTM1_uc002epc.4_Non-coding_Transcript|CMTM1_uc002epd.4_Intron|CMTM1_uc002epe.4_Intron|CMTM1_uc002epf.4_Intron|CMTM1_uc002epg.4_Intron|CMTM1_uc002epm.4_Non-coding_Transcript|CMTM1_uc002epo.4_Non-coding_Transcript|CMTM1_uc002epp.4_Non-coding_Transcript|CMTM1_uc002epq.4_Non-coding_Transcript|CMTM1_uc010cds.3_Non-coding_Transcript|CMTM1_uc002epn.4_Frame_Shift_Ins_p.V175fs|CMTM1_uc002eps.3_Non-coding_Transcript	NM_052999	NP_443725	Q8IZ96	CKLF1_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 1 (CMTM1), transcript variant 17, mRNA.	58					chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CTGCATTGTCGTTTTTTTTATT	0.347													---	1068	---	---	10	---					
RANBP10	57610	broad.mit.edu	37	16	67763279	67763281	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:67763279_67763281delGAG	uc002eud.3	-	9	1370_1372	c.1254_1256delCTC	c.(1252-1257)tcctcg>tcg	p.418_419SS>S	RANBP10_uc010ceo.3_In_Frame_Del_p.189_190SS>S|RANBP10_uc010vju.2_In_Frame_Del_p.362_363SS>S|RANBP10_uc010vjv.2_In_Frame_Del_p.301_302SS>S|RANBP10_uc010vjw.1_In_Frame_Del_p.79_80SS>S	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	418	Ser-rich.							p.S418S(4)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ggaagaggacgaggaggaggagg	0.567													---	361	---	---	12	---					
NFAT5	10725	broad.mit.edu	37	16	69726420	69726422	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:69726420_69726422delCAG	uc002exm.2	+	11	2974_2976	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_uc002exj.2_In_Frame_Del_p.Q812del|NFAT5_uc002exk.2_In_Frame_Del_p.Q812del|NFAT5_uc002exl.2_In_Frame_Del_p.Q906del|NFAT5_uc002exn.2_In_Frame_Del_p.Q905del|NFAT5_uc002exo.2_5'Flank|NFAT5_uc002exi.3_In_Frame_Del_p.Q812del	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	888	Poly-Gln.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473													---	382	---	---	9	---					
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:69782978_69782980delTCC	uc002exs.3	-	5	583_585	c.567_569delGGA	c.(565-570)gaggaa>gaa	p.189_190EE>E		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.	189	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522													---	807	---	---	27	---					
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	-	-	rs4788682	by1000genomes	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	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													---	527	---	---	8	---					
ADAMTS18	170692	broad.mit.edu	37	16	77356311	77356311	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:77356311delA	uc002ffc.4	-	13	2504	c.2085delT	c.(2083-2085)tttfs	p.F695fs	ADAMTS18_uc010chc.1_Frame_Shift_Del_p.F283fs|ADAMTS18_uc002ffe.1_Frame_Shift_Del_p.F391fs	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	695	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A696fs*18(2)|p.F694Y(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						CGGACATTGCAAAAAAAAATT	0.403													---	816	---	---	20	---					
C16orf46	123775	broad.mit.edu	37	16	81095682	81095682	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:81095682delT	uc002fgc.4	-	3	531	c.272delA	c.(271-273)aagfs	p.K91fs	C16orf46_uc010chf.3_Frame_Shift_Del_p.K91fs|C16orf46_uc010vno.2_5'UTR	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	91										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TACCCTCGCCTTTTTTGGTAT	0.592													---	1391	---	---	7	---					
TAF1C	9013	broad.mit.edu	37	16	84213650	84213651	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:84213650_84213651insG	uc002fhn.3	-	12	1842_1843	c.1600_1601insC	c.(1600-1602)cagfs	p.Q534fs	TAF1C_uc010vnz.2_Frame_Shift_Ins_p.Q202fs|TAF1C_uc002fho.3_Frame_Shift_Ins_p.Q57fs|TAF1C_uc010voa.2_Frame_Shift_Ins_p.Q202fs|TAF1C_uc002fhm.3_Frame_Shift_Ins_p.Q440fs|TAF1C_uc010vnx.2_Frame_Shift_Ins_p.Q508fs|TAF1C_uc010vny.2_Frame_Shift_Ins_p.Q125fs	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	534					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	p.Q534fs*19(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						AGGAAGAGACTGGGGGGGGCCT	0.663													---	402	---	---	10	---					
ZC3H18	124245	broad.mit.edu	37	16	88677692	88677693	+	Frame_Shift_Del	DEL	GA	-	-	rs145094173		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:88677692_88677693delGA	uc010voz.2	+	8	1495_1496	c.1295_1296delGA	c.(1294-1296)cgafs	p.R432fs	ZC3H18_uc021tmm.1_Intron|ZC3H18_uc010voy.1_Frame_Shift_Del_p.R291fs|ZC3H18_uc002fky.3_Frame_Shift_Del_p.R408fs|ZC3H18_uc010chw.3_Non-coding_Transcript	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	408						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		gagcgggagcgagagagagaga	0.644													---	157	---	---	7	---					
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:3721809_3721811delTCC	uc010ckl.1	-	9	1079_1081	c.1056_1058delGGA	c.(1054-1059)gaggaa>gaa	p.352_353EE>E	C17orf85_uc002fwr.2_In_Frame_Del_p.62_63EE>E|C17orf85_uc002fwq.2_In_Frame_Del_p.72_73EE>E	NM_001114118	NP_061023	Q53F19	CQ085_HUMAN	Homo sapiens chromosome 17 open reading frame 85 (C17orf85), mRNA.	352	Glu-rich.						nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507													---	773	---	---	18	---					
WSCD1	23302	broad.mit.edu	37	17	6012979	6012979	+	Frame_Shift_Del	DEL	C	-	-	rs41314099	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:6012979delC	uc010cli.3	+	5	1281	c.902delC	c.(901-903)accfs	p.T301fs	WSCD1_uc002gcn.3_Frame_Shift_Del_p.T301fs|WSCD1_uc002gco.3_Frame_Shift_Del_p.T301fs|WSCD1_uc010clj.3_5'UTR	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	301	WSC 2.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GCTTACCCTACCCCCCGGTTC	0.562													---	2009	---	---	9	---					
YBX2	51087	broad.mit.edu	37	17	7193599	7193599	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:7193599delG	uc002gfq.2	-	4	772	c.715delC	c.(715-717)cggfs	p.R239fs		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	239	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TTGGGAGGCCGGGGGCCTCGC	0.622													---	2013	---	---	9	---					
C17orf74	201243	broad.mit.edu	37	17	7329686	7329688	+	In_Frame_Del	DEL	CGC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:7329686_7329688delCGC	uc002ggw.3	+	2	449_451	c.376_378delCGC	c.(376-378)cgcdel	p.R130del	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	130	Arg-rich.					integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CTGTGTTcgtcgccgccgccgcc	0.606													---	753	---	---	7	---					
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	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													---	2135	---	---	9	---					
WRAP53	55135	broad.mit.edu	37	17	7606722	7606722	+	Frame_Shift_Del	DEL	C	-	-	rs7640	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:7606722delC	uc010vuh.2	+	10	1720	c.1565delC	c.(1564-1566)gcgfs	p.A522fs	WRAP53_uc010vui.2_Frame_Shift_Del_p.A522fs|WRAP53_uc002gip.3_Frame_Shift_Del_p.A522fs|WRAP53_uc002gir.3_Frame_Shift_Del_p.A522fs|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Frame_Shift_Del_p.A489fs|EFNB3_uc002gis.3_5'Flank	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	522			A -> G (in dbSNP:rs7640).		positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding	p.A522G(2)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TGTGGGGGGGCGCCAGACTCC	0.582													---	623	---	---	8	---					
CHD3	1107	broad.mit.edu	37	17	7796799	7796800	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:7796799_7796800insC	uc002gjd.2	+	4	884_885	c.882_883insC	c.(880-885)gcacccfs	p.A294fs	CHD3_uc002gje.2_Frame_Shift_Ins_p.A235fs|CHD3_uc002gjf.2_Frame_Shift_Ins_p.A235fs|CHD3_uc002gjg.1_Frame_Shift_Ins_p.A67fs	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	235					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCCCCATAGCACCCTCCGGACC	0.649													---	252	---	---	7	---					
CHD3	1107	broad.mit.edu	37	17	7798765	7798765	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:7798765delC	uc002gjd.2	+	9	1791	c.1789delC	c.(1789-1791)cccfs	p.P597fs	CHD3_uc002gje.2_Frame_Shift_Del_p.P538fs|CHD3_uc002gjf.2_Frame_Shift_Del_p.P538fs|CHD3_uc002gjg.1_Frame_Shift_Del_p.P366fs	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	538					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGATGTCCCACCCCCCCGTCC	0.577													---	1034	---	---	7	---					
CNTROB	116840	broad.mit.edu	37	17	7843518	7843519	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	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													---	976	---	---	10	---					
NDEL1	81565	broad.mit.edu	37	17	8370271	8370273	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:8370271_8370273delCTC	uc002glj.3	+	8	1165_1167	c.968_970delCTC	c.(967-972)gctcct>gct	p.P327del	NDEL1_uc002gli.3_3'UTR|NDEL1_uc002glk.1_Non-coding_Transcript	NM_030808	NP_110435	Q9GZM8	NDEL1_HUMAN	Homo sapiens nudE nuclear distribution gene E homolog (A. nidulans)-like 1 (NDEL1), transcript variant 2, mRNA.	327	Interaction with CENPF.|Interaction with NEFL (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						TTTGACCCCGCTCCTCCTCCTCC	0.576													---	993	---	---	8	---					
MYH10	4628	broad.mit.edu	37	17	8397095	8397097	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:8397095_8397097delCCT	uc002glm.3	-	31	4259_4261	c.4163_4165delAGG	c.(4162-4167)gaggcc>gcc	p.E1388del	MYH10_uc002gll.3_In_Frame_Del_p.E1357del|MYH10_uc010cnx.3_In_Frame_Del_p.E1366del	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1357					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity	p.E1388G(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCTTCCTGGCCTCCTCCTCCTC	0.596													---	481	---	---	21	---					
EPN2	22905	broad.mit.edu	37	17	19232949	19232950	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:19232949_19232950insA	uc002gvd.4	+	8	1848_1849	c.1400_1401insA	c.(1399-1401)tcafs	p.S467fs	EPN2_uc010cql.1_Frame_Shift_Ins_p.S176fs|EPN2_uc002gve.4_Frame_Shift_Ins_p.S410fs|EPN2_uc002gvf.4_Frame_Shift_Ins_p.S182fs|EPN2_uc010vyo.2_Frame_Shift_Ins_p.S175fs|EPN2_uc002gvh.1_Frame_Shift_Ins_p.S467fs|EPN2_uc010vyp.2_Frame_Shift_Ins_p.S403fs|EPN2_uc010vyq.2_Frame_Shift_Ins_p.S404fs|EPN2_uc002gvj.3_Frame_Shift_Ins_p.S130fs	NM_014964	NP_001096134	O95208	EPN2_HUMAN	Homo sapiens epsin 2 (EPN2), transcript variant 2, mRNA.	467	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding	p.T470fs*19(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CTTCGGACTTCAAAAAAAACAG	0.396													---	654	---	---	13	---					
SUPT6H	6830	broad.mit.edu	37	17	27001303	27001305	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:27001303_27001305delGAG	uc010crt.3	+	3	304_306	c.112_114delGAG	c.(112-114)gagdel	p.E43del	SUPT6H_uc002hby.3_In_Frame_Del_p.E43del	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	43	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity	p.E42D(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCTTCCAGATGAGGAGGAGGAGG	0.453													---	402	---	---	17	---					
ASIC2	40	broad.mit.edu	37	17	31439005	31439005	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:31439005delC	uc002hht.3	-	1	1662	c.789delG	c.(787-789)gggfs	p.G263fs	ASIC2_uc002hhu.3_Frame_Shift_Del_p.G212fs	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	212					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CGTTGCCTGTCCCCCCCTTGA	0.552													---	770	---	---	7	---					
LIG3	3980	broad.mit.edu	37	17	33318740	33318740	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:33318740delC	uc002hik.2	+	5	1221	c.1092delC	c.(1090-1092)ttcfs	p.F364fs	LIG3_uc002hij.3_Frame_Shift_Del_p.F364fs|LIG3_uc010cth.1_Frame_Shift_Del_p.F373fs	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	364					DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GCAAGTCTTTCCCCCCAGCTG	0.542								Other BER factors					---	963	---	---	8	---					
KRT10	3858	broad.mit.edu	37	17	38978747	38978749	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:38978747_38978749delCTC	uc002hvi.3	-	0	115_117	c.89_91delGAG	c.(88-93)ggagtg>gtg	p.G30del	TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	30	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544).	epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				AGGGATGACActcctcctcctcc	0.552													---	307	---	---	7	---					
KLHL11	55175	broad.mit.edu	37	17	40011270	40011271	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:40011270_40011271delTC	uc002hyf.1	-	1	854_855	c.848_849delGA	c.(847-849)agafs	p.R283fs		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	Homo sapiens kelch-like 11 (Drosophila) (KLHL11), mRNA.	283	BACK.					extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CTTCAAAGTATCTCTCTCTCTC	0.401													---	451	---	---	14	---					
CCDC103	388389	broad.mit.edu	37	17	42980014	42980015	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:42980014_42980015delAG	uc002iho.3	+	3	641_642	c.558_559delAG	c.(556-561)gcagagfs	p.A186fs	FAM187A_uc002ihp.1_5'Flank	NM_213607	NP_998772	Q8IW40	CC103_HUMAN	Homo sapiens coiled-coil domain containing 103 (CCDC103), mRNA.	186								p.E187K(2)		endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				TGAGCCGGGCAGAGAGAGAGAG	0.644													---	444	---	---	9	---					
PLCD3	113026	broad.mit.edu	37	17	43192760	43192762	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:43192760_43192762delTCC	uc002iib.3	-	8	1623_1625	c.1509_1511delGGA	c.(1507-1512)gaggat>gat	p.E503del		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	Homo sapiens phospholipase C, delta 3 (PLCD3), mRNA.	503					intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E503D(3)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	ctcctcgtcatcctcctcctcct	0.670													---	170	---	---	12	---					
HOXB2	3212	broad.mit.edu	37	17	46622130	46622132	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:46622130_46622132delAGG	uc002inm.3	-	0	262_264	c.142_144delCCT	c.(142-144)cctdel	p.P48del		NM_002145	NP_002136	P14652	HXB2_HUMAN	Homo sapiens homeobox B2 (HOXB2), mRNA.	48					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TTTGCTCGAAAGGAGGAGGAGGA	0.596													---	783	---	---	17	---					
VEZF1	7716	broad.mit.edu	37	17	56056605	56056607	+	In_Frame_Del	DEL	TGC	-	-	rs61731354	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:56056605_56056607delTGC	uc002ivf.1	-	4	1187_1189	c.1044_1046delGCA	c.(1042-1047)cagcaa>caa	p.348_349QQ>Q	VEZF1_uc010dcn.1_In_Frame_Del_p.198_199QQ>Q	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	348	Poly-Gln.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ttgttgttgttgctgctgctgct	0.463													---	1451	---	---	7	---					
FTSJ3	117246	broad.mit.edu	37	17	61899155	61899157	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:61899155_61899157delCTC	uc002jbz.3	-	13	1600_1602	c.1522_1524delGAG	c.(1522-1524)gagdel	p.E508del	FTSJ3_uc002jca.3_In_Frame_Del_p.E508del	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	508					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCAGTGGATTCTCCTCCTCCTCC	0.537													---	848	---	---	21	---					
BPTF	2186	broad.mit.edu	37	17	65822267	65822269	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:65822267_65822269delGAG	uc002jgf.3	+	0	488_490	c.427_429delGAG	c.(427-429)gagdel	p.E148del	BPTF_uc002jge.3_In_Frame_Del_p.E148del|BPTF_uc010wqm.1_In_Frame_Del_p.E148del	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	148	Glu-rich.				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	p.E143*(2)		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)			catggtctccgaggaggaggagg	0.635													---	176	---	---	9	---					
BPTF	2186	broad.mit.edu	37	17	65940454	65940456	+	In_Frame_Del	DEL	CAC	-	-	rs143937013		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:65940454_65940456delCAC	uc002jgf.3	+	19	6727_6729	c.6666_6668delCAC	c.(6664-6669)agcacc>agc	p.T2227del	BPTF_uc002jge.3_In_Frame_Del_p.T2353del|BPTF_uc021uca.1_In_Frame_Del_p.T27del|BPTF_uc002jgg.3_In_Frame_Del_p.T27del	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	2353					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)			CCACAGCCAGCACCACCACCACC	0.542													---	1001	---	---	11	---					
LOC100499466	100499466	broad.mit.edu	37	17	66124428	66124428	+	RNA	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:66124428delA	uc002jgq.3	+	5		c.3551delA								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		TTCACCTGTCAAAAAAAAGAG	0.448													---	436	---	---	9	---					
SLC16A6	9120	broad.mit.edu	37	17	66267125	66267125	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:66267125delA	uc002jha.2	-	5	1489	c.1176delT	c.(1174-1176)tttfs	p.F392fs	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Frame_Shift_Del_p.F392fs	NM_001174166	NP_004685	O15403	MOT7_HUMAN	Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA.	392						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CCATAAACCCAAAAAATATGC	0.438													---	993	---	---	7	---					
CDC42EP4	23580	broad.mit.edu	37	17	71281585	71281587	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:71281585_71281587delTCC	uc002jjn.3	-	1	1200_1202	c.1053_1055delGGA	c.(1051-1056)gaggat>gat	p.E351del	CDC42EP4_uc002jjo.3_In_Frame_Del_p.E351del|CDC42EP4_uc002jjp.1_In_Frame_Del_p.E281del|CDC42EP4_uc021ucn.1_In_Frame_Del_p.E351del	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.	351					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			ACGGATTTCATCCTCCTCCTCCT	0.640													---	938	---	---	7	---					
KIAA0195	9772	broad.mit.edu	37	17	73482037	73482039	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:73482037_73482039delTGC	uc010wsa.2	+	2	452_454	c.260_262delTGC	c.(259-264)gtgctg>gtg	p.L91del	KIAA0195_uc002jnz.4_In_Frame_Del_p.L81del	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	81					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTACTGGCCGTGCTGCTGCTGCT	0.675													---	275	---	---	7	---					
LLGL2	3993	broad.mit.edu	37	17	73569700	73569701	+	Frame_Shift_Ins	INS	-	G	G	rs112393371	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:73569700_73569701insG	uc002joh.3	+	20	3018_3019	c.2864_2865insG	c.(2863-2865)ccgfs	p.P955fs	LLGL2_uc002joi.3_Frame_Shift_Ins_p.P955fs|LLGL2_uc010dgg.2_Frame_Shift_Ins_p.P955fs|LLGL2_uc002joj.3_Frame_Shift_Ins_p.P944fs|LLGL2_uc010wsd.2_Frame_Shift_Ins_p.P582fs	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	955					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAAGGCCCCGAGCCGAGCCA	0.668													---	286	---	---	7	---					
CBX4	8535	broad.mit.edu	37	17	77808241	77808243	+	In_Frame_Del	DEL	GTG	-	-	rs3833850		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:77808241_77808243delGTG	uc002jxe.3	-	4	1361_1363	c.1198_1200delCAC	c.(1198-1200)cacdel	p.H400del		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	400	His-rich.|Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCGACGGCgtggtggtggtgg	0.704													---	112	---	---	7	---					
SLC26A11	284129	broad.mit.edu	37	17	78201649	78201651	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:78201649_78201651delTGC	uc002jyb.2	+	6	932_934	c.626_628delTGC	c.(625-630)atgctg>atg	p.L213del	SLC26A11_uc002jyc.2_In_Frame_Del_p.L213del|SLC26A11_uc002jyd.2_In_Frame_Del_p.L213del|SLC26A11_uc010dhv.2_In_Frame_Del_p.L213del	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	213						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTCTGCATGCTGCTGCTGCT	0.675													---	1066	---	---	13	---					
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr18:12986927_12986929delTCC	uc002krq.3	+	8	1275_1277	c.1137_1139delTCC	c.(1135-1140)cttcct>ctt	p.P385del	SEH1L_uc002krr.3_3'UTR	NM_001013437	NP_001013455	Q96EE3	SEH1_HUMAN	Homo sapiens SEH1-like (S. cerevisiae) (SEH1L), transcript variant 1, mRNA.	0					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mRNA transport|mitotic metaphase plate congression|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522													---	434	---	---	26	---					
OSBPL1A	114876	broad.mit.edu	37	18	21750331	21750331	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr18:21750331delT	uc002kve.3	-	23	2595	c.2378delA	c.(2377-2379)aatfs	p.N793fs	OSBPL1A_uc002kvd.3_Frame_Shift_Del_p.N280fs|OSBPL1A_uc010xbc.2_Frame_Shift_Del_p.N411fs	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA.	793					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTCTTATCATTTTTTTTGTA	0.393													---	803	---	---	14	---					
WBP11P1	441818	broad.mit.edu	37	18	30091782	30091782	+	RNA	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr18:30091782delT	uc010dmc.3	+	0		c.157delT								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		tttctttttctttttttttAA	0.418													---	253	---	---	7	---					
HAUS1	115106	broad.mit.edu	37	18	43685174	43685174	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr18:43685174delA	uc002lbu.3	+	1	125	c.45delA	c.(43-45)ttafs	p.L15fs	ATP5A1_uc002lbt.1_5'Flank|HAUS1_uc002lbv.3_5'UTR	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 1 (HAUS1), transcript variant 1, mRNA.	15					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CTGCGTGGTTAAAAAAAATAT	0.393													---	292	---	---	15	---					
CXXC1	30827	broad.mit.edu	37	18	47812275	47812277	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr18:47812275_47812277delCTG	uc002leq.4	-	4	1214_1216	c.481_483delCAG	c.(481-483)cagdel	p.Q161del	CXXC1_uc002lep.4_In_Frame_Del_p.Q18del|CXXC1_uc002ler.4_In_Frame_Del_p.Q161del|CXXC1_uc010doy.3_In_Frame_Del_p.Q161del	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	161					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ACCGTTTGATctgctgctgctgc	0.557													---	322	---	---	9	---					
CNN2	1265	broad.mit.edu	37	19	1037646	1037646	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:1037646delC	uc002lqu.3	+	6	1040	c.677delC	c.(676-678)accfs	p.T226fs	ABCA7_uc002lqw.4_5'Flank|CNN2_uc002lqv.3_Frame_Shift_Del_p.T187fs|CNN2_uc010xgb.2_Frame_Shift_Del_p.T215fs|CNN2_uc010xgc.2_Frame_Shift_Del_p.T247fs|ABCA7_uc010dsa.3_5'Flank	NM_004368	NP_004359	Q99439	CNN2_HUMAN	Homo sapiens calponin 2 (CNN2), transcript variant 1, mRNA.	226					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCCGGGACCCGGCGGCAC	0.632													---	1513	---	---	11	---					
UBXN6	80700	broad.mit.edu	37	19	4454085	4454085	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:4454085delT	uc002man.2	-	1	186	c.89delA	c.(88-90)aagfs	p.K30fs	UBXN6_uc002mam.2_5'UTR	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	Homo sapiens UBX domain protein 6 (UBXN6), transcript variant 1, mRNA.	30						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTGTGGGCCTTTTCCCTGGG	0.667													---	1408	---	---	7	---					
HDGFRP2	84717	broad.mit.edu	37	19	4491824	4491824	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:4491824delA	uc002mao.3	+	5	763	c.670delA	c.(670-672)aaafs	p.K224fs	HDGFRP2_uc002map.3_Frame_Shift_Del_p.K224fs|HDGFRP2_uc010dtz.1_Non-coding_Transcript	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.	224	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										GGGGGGACGGAAAAAAAAGGT	0.632													---	670	---	---	8	---					
MLLT1	4298	broad.mit.edu	37	19	6222272	6222274	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:6222272_6222274delAGG	uc002mek.3	-	5	1132_1134	c.968_970delCCT	c.(967-972)tccttc>ttc	p.S323del		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	323	Poly-Ser.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TTGTCCGAGAAGGAGGAGGAGGA	0.650			T	MLL	AL								---	391	---	---	10	---					
DENND1C	79958	broad.mit.edu	37	19	6477251	6477251	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:6477251delG	uc002mfe.3	-	7	583	c.491delC	c.(490-492)cctfs	p.P164fs	DENND1C_uc002mfb.3_5'Flank|DENND1C_uc002mfc.3_5'Flank|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Frame_Shift_Del_p.P120fs	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	164	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCCCCGGGTAGGGGGGGGGAT	0.672													---	335	---	---	10	---					
ECSIT	51295	broad.mit.edu	37	19	11618821	11618821	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:11618821delG	uc002msb.3	-	4	915	c.781delC	c.(781-783)cagfs	p.Q261fs	ZNF653_uc002mrz.2_5'Flank|ECSIT_uc010dyc.2_Frame_Shift_Del_p.Q261fs|ECSIT_uc010dyd.3_Frame_Shift_Del_p.Q261fs|ECSIT_uc010xma.2_Frame_Shift_Del_p.Q47fs	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	261					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ATGTGGGGCTGGGGGGGATCT	0.582													---	1095	---	---	7	---					
CYP4F3	4051	broad.mit.edu	37	19	15769322	15769322	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:15769322delT	uc010xok.2	+	10	1321	c.1271delT	c.(1270-1272)gttfs	p.V424fs	CYP4F3_uc010xol.2_Frame_Shift_Del_p.V424fs|CYP4F3_uc002nbj.3_Frame_Shift_Del_p.V424fs|CYP4F3_uc010xom.2_Frame_Shift_Del_p.V275fs|CYP4F3_uc002nbk.3_Frame_Shift_Del_p.V424fs|CYP4F3_uc010xon.2_Frame_Shift_Del_p.V134fs	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	424					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CTCATCAGTGTTTTTGGAACC	0.622													---	2440	---	---	14	---					
ZNF43	7594	broad.mit.edu	37	19	21992087	21992087	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:21992087delT	uc002nqj.3	-	3	882	c.752delA	c.(751-753)aatfs	p.N251fs	ZNF43_uc002nql.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqm.3_Frame_Shift_Del_p.N245fs|ZNF43_uc010ecv.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqk.3_Frame_Shift_Del_p.N181fs	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCTAGTATAATTTTTTTTATG	0.348													---	508	---	---	7	---					
ZFP36	7538	broad.mit.edu	37	19	39898948	39898950	+	In_Frame_Del	DEL	CAC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:39898948_39898950delCAC	uc002olh.1	+	1	648_650	c.590_592delCAC	c.(589-594)tcacca>tca	p.P201del		NM_003407	NP_003398	P26651	TTP_HUMAN	Homo sapiens zinc finger protein 36, C3H type, homolog (mouse) (ZFP36), mRNA.	201					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCGGACCTCACCACCACCACC	0.685													---	1969	---	---	10	---					
C19orf47	126526	broad.mit.edu	37	19	40834399	40834399	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:40834399delG	uc002oni.4	-	5	472	c.471delC	c.(469-471)cccfs	p.P157fs	C19orf47_uc002ong.3_Frame_Shift_Del_p.P16fs|C19orf47_uc002onh.3_Frame_Shift_Del_p.P90fs	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	Homo sapiens chromosome 19 open reading frame 47 (C19orf47), mRNA.	157										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CCGGGCGCCTGGGGGGTGTGC	0.612													---	1899	---	---	7	---					
ERF	2077	broad.mit.edu	37	19	42753149	42753151	+	In_Frame_Del	DEL	GAA	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:42753149_42753151delGAA	uc002ote.4	-	3	1271_1273	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	ERF_uc002otd.4_In_Frame_Del_p.102_103SS>S	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	371	Poly-Ser.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.680													---	885	---	---	8	---					
ZC3H4	23211	broad.mit.edu	37	19	47572401	47572403	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:47572401_47572403delCTC	uc002pga.4	-	13	2382_2384	c.2344_2346delGAG	c.(2344-2346)gagdel	p.E782del	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	782							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCGCTCTCTCCTCCTCCTCC	0.700													---	978	---	---	7	---					
DHX34	9704	broad.mit.edu	37	19	47883158	47883160	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:47883158_47883160delGGA	uc010xyn.2	+	13	3247_3249	c.2898_2900delGGA	c.(2896-2901)ctggag>ctg	p.E971del	DHX34_uc010xyo.1_In_Frame_Del_p.E100del	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	971						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGCAGCAGCTGGAGGAGGAGGAG	0.660													---	356	---	---	8	---					
NUCB1	4924	broad.mit.edu	37	19	49425109	49425111	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:49425109_49425111delAGC	uc002plb.4	+	11	1533_1535	c.1199_1201delAGC	c.(1198-1203)aagcag>aag	p.Q407del	Mir_324_uc021uxc.1_5'Flank|NUCB1_uc002pld.3_In_Frame_Del_p.Q70del	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	Homo sapiens nucleobindin 1 (NUCB1), mRNA.	407	Poly-Gln.					ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton	DNA binding|calcium ion binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		Gagcagcggaagcagcagcagca	0.640													---	385	---	---	7	---					
PTH2	113091	broad.mit.edu	37	19	49926531	49926533	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:49926531_49926533delCAG	uc002pnn.1	-	0	166_168	c.64_66delCTG	c.(64-66)ctgdel	p.L22del		NM_178449	NP_848544	Q96A98	TIP39_HUMAN	Homo sapiens parathyroid hormone 2 (PTH2), mRNA.	22					neuropeptide signaling pathway	extracellular region		p.L22V(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		AGGGCACCACcagcagcagcagc	0.690													---	252	---	---	8	---					
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:50310483_50310485delCAG	uc002ppq.2	-	10	1384_1386	c.1180_1182delCTG	c.(1180-1182)ctgdel	p.L394del	FUZ_uc002ppt.2_Non-coding_Transcript|FUZ_uc002ppu.2_In_Frame_Del_p.L358del	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	Homo sapiens fuzzy homolog (Drosophila) (FUZ), transcript variant 1, mRNA.	394	Leu-rich.				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCTGGGGAGACAGCAGCAGCAGC	0.635													---	439	---	---	11	---					
SIGLEC9	27180	broad.mit.edu	37	19	51628233	51628235	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:51628233_51628235delTGC	uc010yct.2	+	0	97_99	c.2_4delTGC	c.(1-6)atgctg>atg	p.L6del	SIGLEC9_uc002pvu.3_In_Frame_Del_p.L6del	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	6					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACCCCAGACATGCTGCTGCTGCT	0.611													---	308	---	---	9	---					
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:55146148_55146150delCTC	uc002qgj.3	+	10	1757_1759	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_uc010erp.1_In_Frame_Del_p.L94del|LILRB1_uc002qgl.3_In_Frame_Del_p.L479del|LILRB1_uc002qgk.3_In_Frame_Del_p.L480del|LILRB1_uc002qgm.3_In_Frame_Del_p.L480del|LILRB1_uc010erq.3_In_Frame_Del_p.L463del|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	479					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.L479del(1)|p.L478L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)			---	458	---	---	17	---					
EPN1	29924	broad.mit.edu	37	19	56203183	56203184	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:56203183_56203184insG	uc002qlw.3	+	6	1168_1169	c.826_827insG	c.(826-828)tggfs	p.W276fs	EPN1_uc002qlv.3_Frame_Shift_Ins_p.W251fs|EPN1_uc010etd.3_Frame_Shift_Ins_p.W276fs|EPN1_uc002qlx.3_Frame_Shift_Ins_p.W362fs	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	Homo sapiens epsin 1 (EPN1), transcript variant 2, mRNA.	276	8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	p.G364fs*164(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CACAGACCCCTGGGGGGGCCCA	0.688													---	819	---	---	8	---					
ZNF416	55659	broad.mit.edu	37	19	58084554	58084554	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:58084554delT	uc002qpf.3	-	3	889	c.718delA	c.(718-720)aggfs	p.R240fs		NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	Homo sapiens zinc finger protein 416 (ZNF416), mRNA.	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TCATAAAGCCTTTTTCCAGTG	0.473													---	1515	---	---	9	---					
GFRA4	64096	broad.mit.edu	37	20	3644008	3644010	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr20:3644008_3644010delCAG	uc002wio.3	-	0	37_39	c.37_39delCTG	c.(37-39)ctgdel	p.L15del	GFRA4_uc002win.3_In_Frame_Del_p.L15del|GFRA4_uc002wip.1_In_Frame_Del_p.L15del	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN	Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 2, mRNA.	15						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						CACCCAGTAACAGCAGCAGCAGC	0.621													---	180	---	---	7	---					
RASSF2	9770	broad.mit.edu	37	20	4776492	4776494	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr20:4776492_4776494delAGG	uc002wld.3	-	3	308_310	c.254_256delCCT	c.(253-258)tcctgg>tgg	p.S85del	RASSF2_uc002wlc.3_5'Flank|RASSF2_uc002wlf.3_In_Frame_Del_p.S85del	NM_170774	NP_739580	P50749	RASF2_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.	85					cell cycle|signal transduction	nucleus	protein binding	p.S84S(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						CCAGAGTGCCAGGAGGAGGAGGA	0.611													---	1047	---	---	7	---					
CHGB	1114	broad.mit.edu	37	20	5903283	5903285	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr20:5903283_5903285delGAG	uc002wmg.3	+	3	799_801	c.493_495delGAG	c.(493-495)gagdel	p.E169del	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	169	Poly-Glu.					extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGAGAGGATGAGGAGGAGGAGG	0.532													---	350	---	---	10	---					
GINS1	9837	broad.mit.edu	37	20	25422397	25422397	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr20:25422397delA	uc002wuv.1	+	5	641	c.507delA	c.(505-507)ttafs	p.L169fs	GINS1_uc010zte.1_Non-coding_Transcript	NM_021067	NP_066545	Q14691	PSF1_HUMAN	Homo sapiens GINS complex subunit 1 (Psf1 homolog) (GINS1), mRNA.	169					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		p.N172fs*14(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						CAGTCCTATTAAAAAAAAATA	0.299													---	641	---	---	19	---					
KIF3B	9371	broad.mit.edu	37	20	30898763	30898765	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr20:30898763_30898765delGAG	uc002wxq.3	+	1	1363_1365	c.1183_1185delGAG	c.(1183-1185)gagdel	p.E399del	KIF3B_uc010ztv.2_Intron|KIF3B_uc010ztw.2_Intron	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	399	Poly-Glu.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGTGGggaagaggaggaggagg	0.571													---	366	---	---	12	---					
NCOA6	23054	broad.mit.edu	37	20	33330968	33330970	+	In_Frame_Del	DEL	TGC	-	-	rs140426729	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr20:33330968_33330970delTGC	uc002xav.3	-	11	5661_5663	c.3090_3092delGCA	c.(3088-3093)cagcaa>caa	p.1030_1031QQ>Q	NCOA6_uc002xaw.3_In_Frame_Del_p.1030_1031QQ>Q|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_In_Frame_Del_p.1030_1031QQ>Q|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1030	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATCATTtgttgctgctgctgct	0.576													---	898	---	---	15	---					
CHD6	84181	broad.mit.edu	37	20	40033403	40033405	+	In_Frame_Del	DEL	TCT	-	-	rs146425509		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr20:40033403_40033405delTCT	uc002xka.1	-	36	8154_8156	c.7976_7978delAGA	c.(7975-7980)aagaca>aca	p.K2659del	CHD6_uc002xjz.1_In_Frame_Del_p.K196del	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2659	Poly-Lys.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCCCCCTTTGTCTTCTTCTTCTT	0.586													---	932	---	---	11	---					
SALL4	57167	broad.mit.edu	37	20	50408346	50408348	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	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													---	750	---	---	8	---					
SYCP2	10388	broad.mit.edu	37	20	58467047	58467047	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr20:58467047delT	uc002yaz.3	-	22	2501	c.2362delA	c.(2362-2364)atgfs	p.M788fs		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	788					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.M788fs*1(2)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AAGCTCACCATTTTTTTTTGT	0.323													---	324	---	---	10	---					
SYCP2	10388	broad.mit.edu	37	20	58490593	58490593	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr20:58490593delT	uc002yaz.3	-	7	665	c.526delA	c.(526-528)atgfs	p.M176fs	SYCP2_uc010gju.1_Frame_Shift_Del_p.M77fs	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	176					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATAGCATTCATTTTTTTTATA	0.289													---	807	---	---	9	---					
RTEL1	51750	broad.mit.edu	37	20	62292822	62292824	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr20:62292822_62292824delGCT	uc021wge.1	+	1	444_446	c.274_276delGCT	c.(274-276)gctdel	p.A96del	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_In_Frame_Del_p.A96del|RTEL1_uc011abd.2_In_Frame_Del_p.A96del|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc002yfv.2_In_Frame_Del_p.A96del|RTEL1_uc011abe.1_5'UTR	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	96	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CTGGGGCAACGCTGCTGCTGCTG	0.645													---	293	---	---	10	---					
MYT1	4661	broad.mit.edu	37	20	62839333	62839335	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr20:62839333_62839335delGAG	uc002yii.3	+	6	1148_1150	c.784_786delGAG	c.(784-786)gagdel	p.E273del	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	273	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E273D(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					agaggaggacgaggaggaggagg	0.596													---	143	---	---	9	---					
APP	351	broad.mit.edu	37	21	27394182	27394184	+	In_Frame_Del	DEL	GTG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr21:27394182_27394184delGTG	uc002ylz.3	-	5	1037_1039	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_uc010glk.3_In_Frame_Del_p.274_275TT>T|APP_uc002yma.3_In_Frame_Del_p.279_280TT>T|APP_uc011ach.2_In_Frame_Del_p.223_224TT>T|APP_uc021whz.1_In_Frame_Del_p.279_280TT>T|APP_uc021wia.1_In_Frame_Del_p.279_280TT>T|APP_uc002ymb.3_In_Frame_Del_p.279_280TT>T|APP_uc010glj.3_In_Frame_Del_p.223_224TT>T|APP_uc021wib.1_In_Frame_Del_p.279_280TT>T|APP_uc011aci.2_In_Frame_Del_p.244_245TT>T|APP_uc011acj.2_In_Frame_Del_p.279_280TT>T	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	279	Poly-Thr.				G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522													---	334	---	---	7	---					
SCAF4	57466	broad.mit.edu	37	21	33043971	33043972	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr21:33043971_33043972delTC	uc002ypd.2	-	19	3610_3611	c.3184_3185delGA	c.(3184-3186)gatfs	p.D1062fs	SCAF4_uc002ype.2_Frame_Shift_Del_p.D1040fs|SCAF4_uc010glu.2_Frame_Shift_Del_p.D1047fs	NM_020706	NP_065757	O95104	SFR15_HUMAN	Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.	1062						nucleus	RNA binding|nucleotide binding	p.D1062Y(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ATCTCTAGAATCTCTCTCTCTG	0.525													---	1097	---	---	7	---					
C21orf59	56683	broad.mit.edu	37	21	33949091	33949091	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr21:33949091delC	uc002ypw.4	-	4	757	c.641delG	c.(640-642)ggtfs	p.G214fs		NM_144659	NP_653260	P57076	CU059_HUMAN	Homo sapiens t-complex 10 (mouse)-like (TCP10L), mRNA.	0						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						TCTTCAGACACCCCCCCGTCT	0.478													---	936	---	---	9	---					
DYRK1A	1859	broad.mit.edu	37	21	38884370	38884372	+	In_Frame_Del	DEL	CAC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr21:38884370_38884372delCAC	uc002ywk.3	+	10	1904_1906	c.1828_1830delCAC	c.(1828-1830)cacdel	p.H619del	DYRK1A_uc002ywi.3_3'UTR|DYRK1A_uc002ywj.3_In_Frame_Del_p.H610del|DYRK1A_uc002ywm.3_3'UTR|DYRK1A_uc011aei.2_In_Frame_Del_p.H380del	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	619	Poly-His.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	p.H618_H619delHH(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ccatcaccatcaccaccaccacc	0.498													---	396	---	---	7	---					
PLAC4	191585	broad.mit.edu	37	21	42551313	42551313	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr21:42551313delC	uc002yyz.3	-	0	5854	c.243delG	c.(241-243)tggfs	p.W81fs	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.	81													Prostate(19;2.29e-06)				gtgagggtatccagggtgagt	0.607													---	122	---	---	8	---					
ZNF295	49854	broad.mit.edu	37	21	43412316	43412317	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr21:43412316_43412317delTC	uc021wjo.1	-	0	1888_1889	c.1888_1889delGA	c.(1888-1890)gaafs	p.E630fs	ZNF295_uc002yzz.4_Intron|ZNF295_uc002zab.4_Frame_Shift_Del_p.E630fs|ZNF295_uc002yzy.4_Frame_Shift_Del_p.E630fs|ZNF295_uc002zaa.4_Frame_Shift_Del_p.E630fs	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	630					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						CTTCTTAATTTCTCTCTCTCTC	0.455													---	698	---	---	9	---					
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	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													---	602	---	---	22	---					
MCM3AP	8888	broad.mit.edu	37	21	47663397	47663397	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr21:47663397delG	uc002zir.1	-	23	5314	c.5278delC	c.(5278-5280)cggfs	p.R1760fs	MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Frame_Shift_Del_p.R255fs|MCM3AP_uc002zip.1_Frame_Shift_Del_p.R501fs|MCM3AP_uc002ziq.1_Frame_Shift_Del_p.R687fs|MCM3AP-AS1_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1760					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.P1759P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					ACAGGAAGCCGGGGGGGCGTC	0.527													---	1210	---	---	9	---					
HIRA	7290	broad.mit.edu	37	22	19373136	19373138	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr22:19373136_19373138delGCT	uc002zpf.1	-	11	1455_1457	c.1235_1237delAGC	c.(1234-1239)cagctg>ctg	p.Q412del	HIRA_uc011agx.1_In_Frame_Del_p.Q278del|HIRA_uc010grn.1_In_Frame_Del_p.Q412del|HIRA_uc010gro.2_In_Frame_Del_p.Q368del|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	412	Poly-Gln.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TTCTGGTCCAGCTGCTGCTGCTG	0.581													---	511	---	---	10	---					
MED15	51586	broad.mit.edu	37	22	20918916	20918918	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr22:20918916_20918918delCAG	uc002zsp.3	+	5	711_713	c.631_633delCAG	c.(631-633)cagdel	p.Q218del	MED15_uc002zsn.1_In_Frame_Del_p.Q137del|MED15_uc002zso.2_In_Frame_Del_p.Q147del|MED15_uc002zsq.3_In_Frame_Del_p.Q218del|MED15_uc010gso.3_In_Frame_Del_p.Q218del|MED15_uc002zsr.3_In_Frame_Del_p.Q192del|MED15_uc011ahs.2_In_Frame_Del_p.Q192del|MED15_uc011aht.1_In_Frame_Del_p.Q192del|MED15_uc002zss.3_In_Frame_Del_p.Q137del|MED15_uc011ahu.2_5'Flank	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	218	Poly-Gln.			Missing (in Ref. 4; CAG30423).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagctccagcagcagcagc	0.567											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	201	---	---	8	---					
TFIP11	24144	broad.mit.edu	37	22	26906183	26906185	+	In_Frame_Del	DEL	TCA	-	-	rs145794160	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr22:26906183_26906185delTCA	uc003acr.2	-	2	428_430	c.54_56delTGA	c.(52-57)gatgac>gac	p.18_19DD>D	TFIP11_uc003acs.2_In_Frame_Del_p.18_19DD>D|TFIP11_uc003act.2_In_Frame_Del_p.18_19DD>D	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	18	Poly-Asp.				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTCCCGCTCGTCATCATCATCAT	0.532													---	746	---	---	8	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	-	-	rs141985009	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	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													---	994	---	---	27	---					
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr22:36696948_36696950delCTC	uc003apg.3	-	21	3016_3018	c.2785_2787delGAG	c.(2785-2787)gagdel	p.E929del	MYH9_uc003aph.1_In_Frame_Del_p.E793del	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	929					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				---	1132	---	---	25	---					
MKL1	57591	broad.mit.edu	37	22	40816887	40816889	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr22:40816887_40816889delTGC	uc003ayv.1	-	6	1050_1052	c.843_845delGCA	c.(841-846)cagcac>cac	p.Q281del	MKL1_uc010gyf.1_In_Frame_Del_p.Q231del|MKL1_uc003ayw.1_In_Frame_Del_p.Q281del|MKL1_uc010gye.1_In_Frame_Del_p.Q281del	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	281	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTAGTTGTGGTGCTGCTGCTGCT	0.660			T	RBM15	acute megakaryocytic leukemia								---	404	---	---	10	---					
C22orf32	91689	broad.mit.edu	37	22	42478046	42478048	+	In_Frame_Del	DEL	GAT	-	-	rs141840500		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr22:42478046_42478048delGAT	uc003bca.3	+	1	382_384	c.304_306delGAT	c.(304-306)gatdel	p.D107del		NM_033318	NP_201575	Q9H4I9	CV032_HUMAN	Homo sapiens chromosome 22 open reading frame 32 (C22orf32), mRNA.	107	Asp/Glu-rich.					integral to membrane|mitochondrion				ovary(1)	1						TGTTCCAGAGGATGATGATGATG	0.478													---	883	---	---	14	---					
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr22:42610573_42610575delAGG	uc003bcj.1	-	0	871_873	c.737_739delCCT	c.(736-741)tccttc>ttc	p.S246del	TCF20_uc003bck.1_In_Frame_Del_p.S246del	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	246	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507													---	762	---	---	22	---					
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	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													---	1393	---	---	21	---					
SCUBE1	80274	broad.mit.edu	37	22	43619184	43619184	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr22:43619184delG	uc003bdt.2	-	10	1373	c.1246delC	c.(1246-1248)cggfs	p.R416fs		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	416					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				AGCTGGGCCCGGGGGGAGGTC	0.647													---	1471	---	---	7	---					
ASMT	438	broad.mit.edu	37	X	1752103	1752103	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:1752103delT	uc004cqd.3	+	7	923	c.707delT	c.(706-708)gttfs	p.V236fs	ASMT_uc010ncy.3_Frame_Shift_Del_p.V236fs|ASMT_uc004cqe.3_Intron	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	208					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAGATCACCGTTTTTGACATC	0.532													---	2061	---	---	7	---					
TXLNG	55787	broad.mit.edu	37	X	16850849	16850850	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	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													---	647	---	---	17	---					
KLHL34	257240	broad.mit.edu	37	X	21674920	21674922	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:21674920_21674922delCTC	uc004czz.1	-	0	1527_1529	c.985_987delGAG	c.(985-987)gagdel	p.E329del		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.	329	Glu-rich.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TGAGCTCCCActcctcctcctcc	0.650													---	146	---	---	8	---					
DMD	1756	broad.mit.edu	37	X	32361293	32361293	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:32361293delT	uc004dda.1	-	39	5941	c.5697delA	c.(5695-5697)aaafs	p.K1899fs	DMD_uc004dcw.2_Frame_Shift_Del_p.K555fs|DMD_uc004dcx.2_Frame_Shift_Del_p.K558fs|DMD_uc004dcz.2_Frame_Shift_Del_p.K1776fs|DMD_uc004dcy.1_Frame_Shift_Del_p.K1895fs|DMD_uc004ddb.1_Frame_Shift_Del_p.K1891fs|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1899	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGCTGGCTAATTTTTTTTCAA	0.358													---	1106	---	---	9	---					
HUWE1	10075	broad.mit.edu	37	X	53589091	53589093	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:53589091_53589093delTCC	uc004dsp.3	-	53	7719_7721	c.7317_7319delGGA	c.(7315-7320)gaggaa>gaa	p.2439_2440EE>E	HUWE1_uc004dsn.3_In_Frame_Del_p.1263_1264EE>E	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	2439	Asp-rich.|Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.L2440L(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ttcctcatcttcctcctcctcct	0.532													---	431	---	---	9	---					
MED12	9968	broad.mit.edu	37	X	70360589	70360591	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:70360589_70360591delAGC	uc004dyy.3	+	41	6348_6350	c.6149_6151delAGC	c.(6148-6153)gagcag>gag	p.Q2076del	MED12_uc004dyz.3_In_Frame_Del_p.Q2075del|MED12_uc004dza.3_In_Frame_Del_p.Q1926del|MED12_uc010nla.3_In_Frame_Del_p.Q705del	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	2076	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ATCCTACCTGagcagcagcagca	0.586			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						---	833	---	---	8	---					
MED12	9968	broad.mit.edu	37	X	70360624	70360626	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:70360624_70360626delCAG	uc004dyy.3	+	41	6383_6385	c.6184_6186delCAG	c.(6184-6186)cagdel	p.Q2076del	MED12_uc004dyz.3_In_Frame_Del_p.Q2075del|MED12_uc004dza.3_In_Frame_Del_p.Q1926del|MED12_uc010nla.3_In_Frame_Del_p.Q705del	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	2076	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					gcaacagcaacagcagcagcagc	0.596			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						---	497	---	---	8	---					
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:72433664_72433666delTCC	uc004ebi.3	-	0	1045_1047	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													---	320	---	---	22	---					
TSIX	9383	broad.mit.edu	37	X	73046080	73046080	+	RNA	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:73046080delT	uc004ebn.2	+	0		c.34041delT			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		AGCCTGGCACTTTTTTTTCCC	0.423													---	1040	---	---	11	---					
ATRX	546	broad.mit.edu	37	X	76778785	76778787	+	In_Frame_Del	DEL	TCT	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:76778785_76778787delTCT	uc004ecp.4	-	30	7024_7026	c.6792_6794delAGA	c.(6790-6795)gaagag>gag	p.2264_2265EE>E	ATRX_uc004ecq.4_In_Frame_Del_p.2226_2227EE>E|ATRX_uc004eco.4_In_Frame_Del_p.2049_2050EE>E	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2264	Poly-Glu.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCAGTCAACTCTTCTTCTTCTT	0.369			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						---	1674	---	---	17	---					
ATRX	546	broad.mit.edu	37	X	76907782	76907784	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:76907782_76907784delTCC	uc004ecp.4	-	14	4609_4611	c.4377_4379delGGA	c.(4375-4380)gaggaa>gaa	p.1459_1460EE>E	ATRX_uc004ecq.4_In_Frame_Del_p.1421_1422EE>E|ATRX_uc004eco.4_In_Frame_Del_p.1244_1245EE>E	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1459	Poly-Glu.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ctcctcctcttcctcctcctcct	0.389			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						---	764	---	---	18	---					
NAP1L3	4675	broad.mit.edu	37	X	92928153	92928155	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:92928153_92928155delTGC	uc004efq.3	-	0	528_530	c.149_151delGCA	c.(148-153)agcact>act	p.S50del	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	50	Ser-rich.				nucleosome assembly	chromatin assembly complex		p.S49N(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ctgccactagtgctgctgctgct	0.586													---	239	---	---	13	---					
TRMT2B	79979	broad.mit.edu	37	X	100276191	100276191	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:100276191delA	uc004egt.3	-	9	1378	c.965delT	c.(964-966)ttcfs	p.F322fs	TRMT2B_uc004egu.3_Frame_Shift_Del_p.F203fs|TRMT2B_uc004egr.3_Frame_Shift_Del_p.F322fs|TRMT2B_uc004egv.3_Frame_Shift_Del_p.F277fs|TRMT2B_uc004egq.3_Frame_Shift_Del_p.F322fs|TRMT2B_uc004egs.3_Frame_Shift_Del_p.F322fs	NM_001167970	NP_079193	Q96GJ1	TRM2_HUMAN	Homo sapiens TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae) (TRMT2B), transcript variant 2, mRNA.	322							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						GTTAATCTGGAAAAAGGCATC	0.498													---	746	---	---	7	---					
RPL36A-HNRNPH2	100529097	broad.mit.edu	37	X	100646805	100646805	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:100646805delA	uc022cag.1	+	2	326	c.280delA	c.(280-282)aaafs	p.K94fs	RPL36A-HNRNPH2_uc022cah.1_Frame_Shift_Del_p.K94fs|BTK_uc010nno.2_5'Flank|RPL36A-HNRNPH2_uc004ehj.2_Frame_Shift_Del_p.K94fs|RPL36A-HNRNPH2_uc004ehk.3_Frame_Shift_Del_p.K58fs	NM_001199973	NP_001186902			Homo sapiens RPL36A-HNRNPH2 readthrough (RPL36A-HNRNPH2), transcript variant 1, mRNA.																		GATTTTCCGGAAAAAGGTGAG	0.418													---	1152	---	---	9	---					
COL4A5	1287	broad.mit.edu	37	X	107842050	107842050	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:107842050delA	uc022ccg.1	+	24	2100	c.1898delA	c.(1897-1899)gaafs	p.E633fs	COL4A5_uc004enz.1_Frame_Shift_Del_p.E633fs|COL4A5_uc004eob.1_Frame_Shift_Del_p.E241fs	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	633	Triple-helical region.		E -> K (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCAGTAGGTGAAAAAGGCATA	0.507									Alport syndrome with Diffuse Leiomyomatosis				---	872	---	---	7	---					
ODZ1	10178	broad.mit.edu	37	X	123838977	123838977	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:123838977delA	uc010nqy.3	-	4	965	c.901delT	c.(901-903)tccfs	p.S301fs	ODZ1_uc011muj.2_Frame_Shift_Del_p.S301fs|ODZ1_uc004euj.3_Frame_Shift_Del_p.S301fs	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	301	Teneurin N-terminal.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GCAGGTCGGGAAAAGGTGCTT	0.527													---	1816	---	---	7	---					
ARHGAP36	158763	broad.mit.edu	37	X	130215725	130215725	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:130215725delT	uc004evz.3	+	1	431	c.86delT	c.(85-87)attfs	p.I29fs	ARHGAP36_uc004ewa.3_Intron|ARHGAP36_uc004ewb.3_Intron|ARHGAP36_uc004ewc.3_5'Flank	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	29					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TCCGCCTTCATTTTTTTAGTG	0.542													---	1960	---	---	8	---					
HTATSF1	27336	broad.mit.edu	37	X	135585048	135585050	+	In_Frame_Del	DEL	AAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:135585048_135585050delAAG	uc004ezw.3	+	5	1104_1106	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_uc004ezx.3_In_Frame_Del_p.K232del	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	232	Poly-Lys.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGCCTCAAAGAAGAAGAAGA	0.335													---	835	---	---	16	---					
SPANXN2	494119	broad.mit.edu	37	X	142803692	142803692	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:142803692delT	uc004fbz.3	-	0	825	c.71delA	c.(70-72)aatfs	p.N24fs		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	24										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.443													---	1476	---	---	23	---					
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	-	-	rs7877654	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:149937526_149937528delGGC	uc004fek.3	-	11	1026_1028	c.798_800delGCC	c.(796-801)ccgccc>ccc	p.266_267PP>P	CD99L2_uc011myb.2_In_Frame_Del_p.183_184PP>P|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_In_Frame_Del_p.256_257PP>P|CD99L2_uc004fem.3_In_Frame_Del_p.207_208PP>P|CD99L2_uc004fen.3_In_Frame_Del_p.184_185PP>P	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	256					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611													---	1557	---	---	16	---					
ZNF185	7739	broad.mit.edu	37	X	152087570	152087572	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	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													---	269	---	---	20	---					
RPL10	6134	broad.mit.edu	37	X	153627860	153627860	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:153627860delA	uc004fkm.2	+	3	303	c.115delA	c.(115-117)aaafs	p.K39fs	AK307233_uc010nuv.2_5'Flank|RPL10_uc004fko.2_Frame_Shift_Del_p.K39fs|RPL10_uc004fkn.1_Frame_Shift_Del_p.K39fs|RPL10_uc004fkq.1_Non-coding_Transcript|RPL10_uc004fkr.1_5'Flank|SNORA70_uc010nux.1_5'Flank|RPL10_uc022cif.1_5'Flank	NM_006013	NP_006004	P27635	RL10_HUMAN	Homo sapiens ribosomal protein L10 (RPL10), transcript variant 1, mRNA.	39					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGGGGCGGAAAAAGGCAAA	0.512											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	1593	---	---	9	---					
IL9R	3581	broad.mit.edu	37	X	155239799	155239801	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:155239799_155239801delAGC	uc004fnv.1	+	8	1470_1472	c.1291_1293delAGC	c.(1291-1293)agcdel	p.S438del	IL9R_uc004fnu.1_3'UTR	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	438	Poly-Ser.			S -> SS (in Ref. 1; AAA58679 and 4; AAL55435).	cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGgcagcaggagcagcagcagca	0.621													---	217	---	---	7	---					
