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
MST1P9	11223	broad.mit.edu	37	1	17085865	17085865	+	Missense_Mutation	SNP	A	G	G	rs1057378	by1000genomes	TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr1:17085865A>G	uc010ock.2	-	7	956	c.956T>C	c.(955-957)cTc>cCc	p.L319P	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.L319P(2)|p.L309P(2)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TGAGCCGTCGAGGTTCCAGCA	0.667000														126			7		0	0	0.006214	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296152	39296152	+	Silent	SNP	A	G	G			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr17:39296152A>G	uc010cxk.2	-	0	588	c.588T>C	c.(586-588)cgT>cgC	p.R196R		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	192						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACAAGGGACGGGGGCAGG	0.597000														58			5		0	0	0.008291	0	0
DDX11L11	0	broad.mit.edu	37	12	92018	92018	+	Missense_Mutation	SNP	T	C	C			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr12:92018T>C	uc010sdi.1	-	1	320	c.292A>G	c.(292-294)Agt>Ggt	p.S98G	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		GACTCCACACTCTCCTGGGTT	0.592000														58			11		0	0	0.008291	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163187	163187	+	RNA	SNP	T	C	C	rs143599805	by1000genomes	TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr8:163187T>C	uc010lra.3	-	3		c.946A>G			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		TGAAAAACATTATTCTTTTAT	0.294000														176			8		0	0	0.006214	0	0
BC107568	0	broad.mit.edu	37	GL000195.1	138107	138107	+	RNA	SNP	T	C	C			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chrGL000195.1:138107T>C	uc003won.1	+	0		c.141T>C								Homo sapiens cDNA clone IMAGE:3683736.																		GACGCATAGTTAAGGTGCCAG	0.602000														39			6		0	0	0.006214	0	0
BC107568	0	broad.mit.edu	37	GL000195.1	138078	138078	+	RNA	SNP	T	C	C			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chrGL000195.1:138078T>C	uc003won.1	+	0		c.112T>C								Homo sapiens cDNA clone IMAGE:3683736.																		TGTTGCCCTGTGATCTGTAGG	0.597000														32			4		0	0	0.014758	0	0
ZNF587B	100293516	broad.mit.edu	37	19	58352661	58352661	+	Missense_Mutation	SNP	T	A	A	rs148810844	by1000genomes	TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr19:58352661T>A	uc021vcp.1	+	2	854	c.619T>A	c.(619-621)Ttt>Att	p.F207I	ZNF587_uc002qqb.2_Intron|ZNF587B_uc021vcn.1_Missense_Mutation_p.F157I|ZNF587_uc002qqi.2_Intron|ZNF587_uc010yhh.2_Intron|ZNF587_uc021vco.1_Intron|ZNF587_uc002qqj.1_Intron	NM_001204818	NP_001191747	B4DR41	B4DR41_HUMAN	Homo sapiens zinc finger protein (LOC100293516), mRNA.	207					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.F207I(1)									TGTGTCTCCCTTTCAGTGTGG	0.493000														192			9		0	0	0.010729	0	0
GNAS	2778	broad.mit.edu	37	20	57484420	57484420	+	Missense_Mutation	SNP	C	T	T	rs11554273		TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr20:57484420C>T	uc002xzw.3	+	7	2815	c.2530C>T	c.(2530-2532)Cgt>Tgt	p.R844C	GNAS_uc021wfl.1_3'UTR|GNAS_uc002xzt.3_Missense_Mutation_p.R169C|GNAS_uc010gjq.3_Missense_Mutation_p.R142C|GNAS_uc002xzx.3_Missense_Mutation_p.R142C|GNAS_uc021wfn.1_Missense_Mutation_p.R201C|GNAS_uc021wfo.1_Missense_Mutation_p.R202C|GNAS_uc002yaa.3_Missense_Mutation_p.R186C|GNAS_uc021wfp.1_Missense_Mutation_p.R187C|GNAS_uc002yad.3_Missense_Mutation_p.R92C|GNAS_uc002yae.3_Missense_Mutation_p.R126C	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	201					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201C(228)|p.R844C(9)|p.R201S(5)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				307			15		0	0	0.020292	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296158	39296158	+	Silent	SNP	G	A	A			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr17:39296158G>A	uc010cxk.2	-	0	582	c.582C>T	c.(580-582)tgC>tgT	p.C194C		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	190						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGGGACGGGGGCAGGTGGAAA	0.612000														55			6		0	0	0.008291	0	0
LOC646214	646214	broad.mit.edu	37	15	21937168	21937168	+	RNA	SNP	C	T	T	rs12185110		TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr15:21937168C>T	uc010tzj.1	-	0		c.3572G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		AGGTATTCCACGACCACAAAC	0.408000														412			18		0	0	0.043863	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	G	G			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr17:39296167A>G	uc010cxk.2	-	0	573	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000														52			8		0	0	0.013537	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163215	163215	+	RNA	SNP	G	A	A			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr8:163215G>A	uc010lra.3	-	3		c.918C>T			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		AGATACACATGTATTTAGAGT	0.323000														259			11		0	0	0.020292	0	0
SLC6A13	6540	broad.mit.edu	37	12	347142	347142	+	Silent	SNP	G	T	T			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr12:347142G>T	uc001qic.2	-	4	603	c.513C>A	c.(511-513)tcC>tcA	p.S171S	SLC6A13_uc009zdj.2_Silent_p.S171S|SLC6A13_uc010sdl.2_Silent_p.S79S|SLC6A13_uc010sdm.1_Silent_p.S52S	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	171					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.S171C(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TACCATTCAGGGAGCCGTTGG	0.522000														276			11		4.36969e-10	4.68181e-10	0.016723	1	0
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	T	T			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr12:106820975C>T	uc001tlp.3	+	13	1324	c.1102_splice	c.e13-1	p.L368_splice	POLR3B_uc001tlq.3_Splice_Site_p.L310_splice	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274000														39			8		0	0	0.020292	0	0
MST1P2	11209	broad.mit.edu	37	1	16975913	16975918	+	RNA	DEL	CCTGTT	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr1:16975913_16975918delCCTGTT	uc010och.2	+	10		c.1935_1940delCCTGTT			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGTTGGGCACCCTGTTCCAGAACCCA	0.578													---	339	---	---	10	---					
MST1P9	11223	broad.mit.edu	37	1	17086085	17086086	+	Frame_Shift_Ins	INS	-	C	C			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr1:17086085_17086086insC	uc010ock.2	-	6	811_812	c.811_812insG	c.(811-813)gcgfs	p.A271fs	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GGCAAGGTACGCCGCGGTGGTG	0.649													---	69	---	---	12	---					
TCEB3	6924	broad.mit.edu	37	1	24078404	24078404	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr1:24078404delA	uc001bho.3	+	3	1447	c.1387delA	c.(1387-1389)aaafs	p.K463fs		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	463					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	p.N439fs*19(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TAAAGGACTTAAAAAAAATGA	0.413											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	796	---	---	7	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	C	C			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr1:28800272_28800273insC	uc001bpy.3	+	5	1295_1296	c.1060_1061insC	c.(1060-1062)tccfs	p.S354fs	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Frame_Shift_Ins_p.S344fs|PHACTR4_uc001bpx.3_Frame_Shift_Ins_p.S328fs	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													---	1081	---	---	11	---					
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr1:32670247_32670248delTG	uc021okt.1	+	4	706_707	c.574_575delTG	c.(574-576)tgtfs	p.C192fs	CCDC28B_uc001bul.1_Intron|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank	NM_024296	NP_077272	Q9BUN5	CC28B_HUMAN	Homo sapiens coiled-coil domain containing 28B (CCDC28B), mRNA.	0								p.A192V(1)		large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													---	1006	---	---	15	---					
ZMPSTE24	10269	broad.mit.edu	37	1	40756542	40756543	+	Frame_Shift_Ins	INS	-	T	T	rs137854889		TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	320	---	---	8	---					
TMEM48	55706	broad.mit.edu	37	1	54298190	54298192	+	In_Frame_Del	DEL	TTA	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr1:54298190_54298192delTTA	uc001cvs.3	-	2	542_544	c.251_253delTAA	c.(250-255)ataagt>agt	p.I84del	TMEM48_uc010onu.2_In_Frame_Del_p.I84del|TMEM48_uc001cvt.3_5'UTR|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_5'UTR	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	84					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						TTGAAAATACTTATTATTATTAT	0.305													---	243	---	---	8	---					
GBP5	115362	broad.mit.edu	37	1	89732166	89732166	+	Frame_Shift_Del	DEL	T	-	-	rs34148688		TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr1:89732166delT	uc001dnc.3	-	6	1268	c.731delA	c.(730-732)aagfs	p.K244fs	GBP5_uc001dnd.3_Frame_Shift_Del_p.K244fs|GBP5_uc001dne.1_Frame_Shift_Del_p.K244fs	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	244						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TTGGGCAAGCTTTTTTTGGTG	0.388													---	848	---	---	8	---					
BRDT	676	broad.mit.edu	37	1	92447228	92447230	+	In_Frame_Del	DEL	AGC	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	449	---	---	7	---					
SYCP1	6847	broad.mit.edu	37	1	115537600	115537601	+	Frame_Shift_Ins	INS	-	A	A			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	295	---	---	14	---					
NBPF10	100132406	broad.mit.edu	37	1	144615246	144615247	+	Splice_Site	INS	-	AG	AG	rs10625215		TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr1:144615246_144615247insAG	uc009wig.1	+	2	308	c.114_splice	c.e2+2	p.L38_splice	NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_5'UTR|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_5'UTR|NBPF10_uc009wif.1_Non-coding_Transcript|PFN1P2_uc001elf.4_5'Flank	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	38										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)		GTAAACCTCAAAGAGATGTTTT	0.470													---	635	---	---	19	---					
ANKRD35	148741	broad.mit.edu	37	1	145562117	145562117	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr1:145562117delA	uc001eob.1	+	9	1913	c.1805delA	c.(1804-1806)gaafs	p.E602fs	ANKRD35_uc010oyx.1_Frame_Shift_Del_p.E445fs	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	602										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTGGAGGGGAAAAGGCCCTA	0.577													---	408	---	---	8	---					
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr1:151773603delA	uc001ezf.1	-	1	1768	c.1578delT	c.(1576-1578)tttfs	p.F526fs	LINGO4_uc021oyu.1_Frame_Shift_Del_p.F526fs	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	526						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTATCCAGAAAAAAAGGCC	0.582													---	987	---	---	9	---					
LCE4A	199834	broad.mit.edu	37	1	152681693	152681698	+	In_Frame_Del	DEL	TGTGGT	-	-	rs74871420		TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr1:152681693_152681698delTGTGGT	uc001fak.2	+	0	171_176	c.142_147delTGTGGT	c.(142-147)tgtggtdel	p.CG48del		NM_178356	NP_848133	Q5TA78	LCE4A_HUMAN	Homo sapiens late cornified envelope 4A (LCE4A), mRNA.	48	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTCTGGGGGCTGTGGTTGCTGCAGCT	0.578													---	741	---	---	7	---					
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	-	-	rs11556342		TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr1:154245864_154245866delGAA	uc010peo.2	+	1	267_269	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_uc001fet.3_Intron|HAX1_uc001fes.3_In_Frame_Del_p.E40del|HAX1_uc009wou.3_5'UTR	NM_006118	NP_006109	O00165	HAX1_HUMAN	Homo sapiens HCLS1 associated protein X-1 (HAX1), transcript variant 1, mRNA.	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				---	355	---	---	13	---					
PRCC	5546	broad.mit.edu	37	1	156761535	156761536	+	Frame_Shift_Ins	INS	-	C	C			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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								---	506	---	---	7	---					
PRG4	10216	broad.mit.edu	37	1	186276044	186276046	+	In_Frame_Del	DEL	CCA	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr1:186276044_186276046delCCA	uc001gru.4	+	6	1244_1246	c.1193_1195delCCA	c.(1192-1197)cccacc>ccc	p.T401del	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_In_Frame_Del_p.T360del|PRG4_uc009wyl.3_In_Frame_Del_p.T308del|PRG4_uc009wym.3_In_Frame_Del_p.T267del|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	401	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T401P(4)|p.T400T(3)|p.T400>?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GAGCCTGCACCCACCACCACCAA	0.650													---	636	---	---	7	---					
PRG4	10216	broad.mit.edu	37	1	186276374	186276376	+	In_Frame_Del	DEL	CCA	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr1:186276374_186276376delCCA	uc001gru.4	+	6	1574_1576	c.1523_1525delCCA	c.(1522-1527)cccacc>ccc	p.T511del	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_In_Frame_Del_p.T470del|PRG4_uc009wyl.3_In_Frame_Del_p.T418del|PRG4_uc009wym.3_In_Frame_Del_p.T377del|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	511	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.P508H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GAGCCTGCACCCACCACCACCAA	0.645													---	874	---	---	7	---					
MAPKAPK2	9261	broad.mit.edu	37	1	206858676	206858678	+	In_Frame_Del	DEL	GCC	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr1:206858676_206858678delGCC	uc001hem.2	+	0	312_314	c.102_104delGCC	c.(100-105)cagccg>cag	p.P40del	MAPKAPK2_uc001hel.2_In_Frame_Del_p.P40del	NM_032960	NP_116584	P49137	MAPK2_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 2 (MAPKAPK2), transcript variant 2, mRNA.	40	Poly-Pro.|Pro-rich.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|nerve growth factor receptor signaling pathway|prostanoid metabolic process|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	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			ccccggcgcagccgccgccgccg	0.729													---	51	---	---	7	---					
ARV1	64801	broad.mit.edu	37	1	231131567	231131567	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr1:231131567delA	uc009xfl.1	+	3	539	c.510delA	c.(508-510)gcafs	p.A170fs	ARV1_uc001huh.3_Frame_Shift_Del_p.A170fs	NM_022786	NP_073623	Q9H2C2	ARV1_HUMAN	Homo sapiens ARV1 homolog (S. cerevisiae) (ARV1), mRNA.	170					sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CCATGACGGCAAAAAAAAAGC	0.383													---	364	---	---	9	---					
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr2:10917819_10917820delAG	uc002ras.3	+	10	1043_1044	c.934_935delAG	c.(934-936)agafs	p.R312fs	ATP6V1C2_uc002rat.3_Intron	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	312					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGACCGACAGAGAGAGAGAG	0.604													---	476	---	---	7	---					
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr2:26022304_26022306delCTG	uc002rgs.2	-	3	572_574	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S		NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	117	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463													---	649	---	---	8	---					
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr2:29295647_29295649delTCC	uc002rmt.2	-	0	1479_1481	c.1479_1481delGGA	c.(1477-1482)gaggaa>gaa	p.493_494EE>E		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	493					response to stimulus|visual perception	photoreceptor outer segment		p.E492K(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542													---	784	---	---	7	---					
CEBPZ	10153	broad.mit.edu	37	2	37454908	37454908	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr2:37454908delT	uc002rpz.3	-	1	1458	c.1428delA	c.(1426-1428)aaafs	p.K476fs		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	476					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATTCAACATCTTTTTTTTTGA	0.368													---	223	---	---	10	---					
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	1179	---	---	10	---					
LIPT1	51601	broad.mit.edu	37	2	99778781	99778781	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr2:99778781delA	uc002szp.4	+	2	522	c.484delA	c.(484-486)aaafs	p.K162fs	MRPL30_uc002szl.1_Intron|LIPT1_uc002szm.4_Frame_Shift_Del_p.K121fs|LIPT1_uc002szn.4_Frame_Shift_Del_p.K121fs|LIPT1_uc002szo.4_Frame_Shift_Del_p.K121fs|LIPT1_uc002szq.4_Frame_Shift_Del_p.K121fs|MRPL30_uc002szr.3_Intron|LIPT1_uc021vln.1_Frame_Shift_Del_p.K121fs|LIPT1_uc021vlo.1_Frame_Shift_Del_p.K121fs|LIPT1_uc021vlp.1_Frame_Shift_Del_p.K121fs	NM_145199	NP_660200	Q9Y234	LIPT_HUMAN	Homo sapiens lipoyltransferase 1 (LIPT1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	121					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	CTTTACAACCAAAAAAAAGTA	0.388													---	370	---	---	8	---					
SGOL2	151246	broad.mit.edu	37	2	201437003	201437004	+	Frame_Shift_Ins	INS	-	T	T			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr2:201437003_201437004insT	uc002uvw.2	+	6	2047_2048	c.1934_1935insT	c.(1933-1935)aatfs	p.N645fs	SGOL2_uc010zhd.1_Frame_Shift_Ins_p.N645fs|SGOL2_uc010zhe.1_Frame_Shift_Ins_p.N645fs	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	645					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.G644fs*18(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAAAAGGTAATTTTTTTTTCA	0.337													---	653	---	---	7	---					
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr2:242738494_242738496delTCC	uc002wcj.1	+	1	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 2 (GAL3ST2), mRNA.	20					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631													---	405	---	---	12	---					
TMEM40	55287	broad.mit.edu	37	3	12790198	12790200	+	In_Frame_Del	DEL	GAG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	779	---	---	7	---					
XPC	7508	broad.mit.edu	37	3	14219966	14219968	+	Splice_Site	DEL	CCT	-	-	rs72561774		TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr3:14219966_14219968delCCT	uc011ave.2	-	1	207	c.103_splice	c.e1+1	p.D35_splice	XPC_uc011avf.2_Splice_Site|XPC_uc011avg.2_Splice_Site_p.D35_splice|LSM3_uc003byn.3_5'Flank	NM_004628	NP_004619	Q01831	XPC_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA.	35	Glu-rich (acidic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	XPC complex|cytoplasm|nucleoplasm	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	p.E34delE(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGCTCTCACCCTCCTCCTCCTC	0.734			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				---	312	---	---	12	---					
SGOL1	151648	broad.mit.edu	37	3	20216050	20216050	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	199	---	---	8	---					
RG9MTD1	54931	broad.mit.edu	37	3	101284009	101284009	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr3:101284009delA	uc003duz.3	+	1	532	c.384delA	c.(382-384)gcafs	p.A128fs	RG9MTD1_uc021xbw.1_Frame_Shift_Del_p.A128fs	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 1 (RG9MTD1), nuclear gene encoding mitochondrial protein, mRNA.	128					tRNA processing	mitochondrion	methyltransferase activity|protein binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	16						CTAACACAGCaaaaaaaaaat	0.343													---	160	---	---	8	---					
PARP14	54625	broad.mit.edu	37	3	122433232	122433232	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr3:122433232delA	uc003efq.4	+	11	4015	c.3956delA	c.(3955-3957)gaafs	p.E1319fs	PARP14_uc021xdc.1_Frame_Shift_Del_p.E1183fs|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Frame_Shift_Del_p.E1036fs|PARP14_uc003efs.1_Frame_Shift_Del_p.E1036fs	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	1319	Macro 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAGGAGTGTGAAAAAAAAAAT	0.423													---	213	---	---	8	---					
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr3:169896635_169896637delTGG	uc003fgl.2	-	1	138_140	c.104_106delCCA	c.(103-108)accatc>atc	p.T35del	PHC3_uc010hws.1_In_Frame_Del_p.T23del|PHC3_uc011bpq.1_In_Frame_Del_p.T35del|PHC3_uc011bpr.1_In_Frame_Del_p.T35del|PHC3_uc003fgm.2_In_Frame_Del_p.T35del|PHC3_uc003fgo.1_In_Frame_Del_p.T23del|PHC3_uc003fgp.3_In_Frame_Del_p.T35del|PHC3_uc003fgq.3_In_Frame_Del_p.T35del|PHC3_uc003fgr.1_Non-coding_Transcript	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	23					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493													---	1305	---	---	7	---					
TMEM175	84286	broad.mit.edu	37	4	946206	946207	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr4:946206_946207delTG	uc003gbq.3	+	6	528_529	c.430_431delTG	c.(430-432)tgtfs	p.C144fs	TMEM175_uc010ibl.1_Frame_Shift_Del_p.C144fs|TMEM175_uc003gbp.1_Frame_Shift_Del_p.C62fs|TMEM175_uc003gbs.3_Frame_Shift_Del_p.C27fs|TMEM175_uc003gbt.3_Frame_Shift_Del_p.C27fs|TMEM175_uc003gbr.3_Frame_Shift_Del_p.C62fs	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	144						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTTCTTGTTCTGTGTGTGTGTG	0.515													---	962	---	---	10	---					
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr4:4204225_4204229delTTGAG	uc003ghp.1	-	3	706_710	c.676_680delCTCAA	c.(676-681)ctcaatfs	p.L226fs		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	226					biomineral tissue development	extracellular space|integral to membrane		p.L226fs*1(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502													---	582	---	---	10	---					
CPEB2	132864	broad.mit.edu	37	4	15067858	15067858	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr4:15067858delT	uc003gnk.2	+	11	2959	c.2959delT	c.(2959-2961)tttfs	p.F987fs	CPEB2_uc003gnl.2_Frame_Shift_Del_p.F960fs|CPEB2_uc003gnm.2_Frame_Shift_Del_p.F957fs|CPEB2_uc003gni.2_Frame_Shift_Del_p.F979fs|CPEB2_uc003gnn.2_Frame_Shift_Del_p.F952fs|CPEB2_uc003gnj.2_Frame_Shift_Del_p.F949fs	NM_001177382	NP_001170853	Q7Z5Q1	CPEB2_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 2 (CPEB2), transcript variant D, mRNA.	542					regulation of translation	cytoplasm	RNA binding|nucleotide binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						ATTTGCTCCCTTTTTTTGTGC	0.443													---	642	---	---	8	---					
LIMCH1	22998	broad.mit.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr4:41648508_41648509delGA	uc003gvz.4	+	16	2835_2836	c.2418_2419delGA	c.(2416-2421)cggagafs	p.R806fs	LIMCH1_uc003gwe.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvu.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvv.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvw.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvx.4_Frame_Shift_Del_p.R409fs|LIMCH1_uc003gvy.4_Frame_Shift_Del_p.R250fs|LIMCH1_uc003gwa.4_Frame_Shift_Del_p.R262fs|LIMCH1_uc011byu.2_Frame_Shift_Del_p.R255fs|LIMCH1_uc003gwc.4_Frame_Shift_Del_p.R267fs|LIMCH1_uc003gwd.4_Frame_Shift_Del_p.R255fs|LIMCH1_uc011byv.2_Frame_Shift_Del_p.R172fs	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	421	Glu-rich.				actomyosin structure organization		actin binding|zinc ion binding	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465													---	571	---	---	9	---					
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	339	---	---	11	---					
UTP3	57050	broad.mit.edu	37	4	71554620	71554622	+	In_Frame_Del	DEL	GAG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	254	---	---	7	---					
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr4:89618431_89618433delCCT	uc003hrx.3	-	0	591_593	c.473_475delAGG	c.(472-477)gaggct>gct	p.E158del	HERC3_uc011cdn.1_Intron|HERC3_uc003hrw.1_Intron|HERC3_uc011cdo.1_Intron	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN	Homo sapiens nucleosome assembly protein 1-like 5 (NAP1L5), mRNA.	158	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626													---	676	---	---	7	---					
ADAD1	132612	broad.mit.edu	37	4	123302211	123302211	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	418	---	---	14	---					
MAML3	55534	broad.mit.edu	37	4	140810639	140810641	+	In_Frame_Del	DEL	GCT	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr4:140810639_140810641delGCT	uc021xsg.1	-	1	2701_2703	c.1949_1951delAGC	c.(1948-1953)cagccg>ccg	p.Q650del	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	646	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGGTGGCGgctgctgctgctg	0.586													---	327	---	---	10	---					
SPOCK3	50859	broad.mit.edu	37	4	168155291	168155292	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	224	---	---	7	---					
PDZD2	23037	broad.mit.edu	37	5	32090059	32090061	+	In_Frame_Del	DEL	TCC	-	-	rs61744453	by1000genomes	TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr5:32090059_32090061delTCC	uc003jhl.3	+	19	6893_6895	c.6505_6507delTCC	c.(6505-6507)tccdel	p.S2173del	PDZD2_uc003jhm.3_In_Frame_Del_p.S2173del	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2173	Ser-rich.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAAACTGGCGTCCTCCTCCTCCT	0.527													---	841	---	---	7	---					
ZFR	51663	broad.mit.edu	37	5	32419951	32419953	+	In_Frame_Del	DEL	GGT	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr5:32419951_32419953delGGT	uc003jhr.1	-	2	473_475	c.393_395delACC	c.(391-396)ccaccc>ccc	p.131_132PP>P	ZFR_uc010iun.1_In_Frame_Del_p.131_132PP>P	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	131	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTAGCTGGGGGTGGTGGTGGTG	0.483													---	1004	---	---	9	---					
THBS4	7060	broad.mit.edu	37	5	79372774	79372776	+	In_Frame_Del	DEL	TGA	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr5:79372774_79372776delTGA	uc021yaw.1	+	15	2180_2182	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	668					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562													---	1231	---	---	7	---					
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	-	-	rs3045983		TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr5:79950742_79950750delCCCCCAGCT	uc003kgz.3	+	0	449_457	c.196_204delCCCCCAGCT	c.(196-204)cccccagctdel	p.PPA66del	DHFR_uc003kgy.1_5'UTR|DHFR_uc011ctl.2_In_Frame_Del_p.11_14GAGG>G|DHFR_uc011ctm.2_Non-coding_Transcript|DHFR_uc010jap.2_Non-coding_Transcript	NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	66					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)					---	31	---	---	17	---					
PCDHAC2	56134	broad.mit.edu	37	5	140230590	140230590	+	Frame_Shift_Del	DEL	T	-	-	rs17844337		TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr5:140230590delT	uc003lht.1	+	0	3234	c.2510delT	c.(2509-2511)attfs	p.I837fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron	NM_014005	NP_054724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 2, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCAGCAGATTTTTTTTCTG	0.279													---	976	---	---	9	---					
FBXO38	81545	broad.mit.edu	37	5	147806939	147806940	+	Frame_Shift_Ins	INS	-	A	A	rs78530338		TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr5:147806939_147806940insA	uc003lpf.1	+	14	2202_2203	c.2082_2083insA	c.(2080-2085)aagaaafs	p.K694fs	FBXO38_uc003lpg.1_Frame_Shift_Ins_p.K694fs|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	694						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTGAAAAGAAAAAAAACAA	0.500													---	227	---	---	7	---					
TIGD6	81789	broad.mit.edu	37	5	149375600	149375600	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr5:149375600delT	uc003lri.3	-	1	1074	c.312delA	c.(310-312)aaafs	p.K104fs	TIGD6_uc003lrj.3_Frame_Shift_Del_p.K104fs|TIGD6_uc021yft.1_Frame_Shift_Del_p.K104fs	NM_001243253	NP_001230182	Q17RP2	TIGD6_HUMAN	Homo sapiens tigger transposable element derived 6 (TIGD6), transcript variant 2, mRNA.	104	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGTTTAGTGCTTTTTTCCGAA	0.423													---	1146	---	---	7	---					
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr5:156378745_156378747delTTG	uc003lwh.2	-	2	512_514	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_uc010jii.2_In_Frame_Del_p.T152del	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	152	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537													---	1487	---	---	7	---					
BNIP1	662	broad.mit.edu	37	5	172578610	172578611	+	Frame_Shift_Ins	INS	-	T	T			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr5:172578610_172578611insT	uc003mci.4	+	2	323_324	c.219_220insT	c.(217-222)acatttfs	p.T73fs	BNIP1_uc003mcj.4_Intron|BNIP1_uc003mck.4_Frame_Shift_Ins_p.T73fs|BNIP1_uc003mcl.4_Intron|BNIP1_uc021yhw.1_Intron	NM_013979	NP_053582	Q12981	SEC20_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA.	59					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	SNARE complex|integral to endoplasmic reticulum membrane|nuclear envelope	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTGCTTCCACATTTTTTTTTAA	0.351													---	344	---	---	10	---					
HIST1H1D	3007	broad.mit.edu	37	6	26235094	26235094	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr6:26235094delT	uc003nhd.3	-	0	123	c.68delA	c.(67-69)aagfs	p.K23fs		NM_005320	NP_005311	P16402	H13_HUMAN	Homo sapiens histone cluster 1, H1d (HIST1H1D), mRNA.	23					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTTCTTCGCCTTTTTCTTCAC	0.507													---	497	---	---	7	---					
GABBR1	2550	broad.mit.edu	37	6	29573436	29573438	+	In_Frame_Del	DEL	CAG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr6:29573436_29573438delCAG	uc003nmt.4	-	19	2683_2685	c.2347_2349delCTG	c.(2347-2349)ctgdel	p.L783del	GABBR1_uc003nmp.4_In_Frame_Del_p.L666del|GABBR1_uc003nms.4_In_Frame_Del_p.L666del|GABBR1_uc003nmu.4_In_Frame_Del_p.L721del|GABBR1_uc011dlr.2_In_Frame_Del_p.L606del	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	783					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.L783M(2)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GGAAGATTCCCAGCAGCAGCAGC	0.512													---	447	---	---	8	---					
TNXB	7148	broad.mit.edu	37	6	32063513	32063514	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr6:32063513_32063514delAC	uc003nzl.2	-	2	2318_2319	c.2116_2117delGT	c.(2116-2118)gtafs	p.V706fs		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	706	EGF-like 18.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAAGCCCTCTACACACACACAC	0.668													---	227	---	---	8	---					
GABRR1	2569	broad.mit.edu	37	6	89891719	89891721	+	In_Frame_Del	DEL	AAG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr6:89891719_89891721delAAG	uc003pna.2	-	7	1307_1309	c.852_854delCTT	c.(850-855)ttcttg>ttg	p.F284del	GABRR1_uc011dzv.1_In_Frame_Del_p.F261del	NM_002042	NP_002033	P24046	GBRR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA.	284					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGTTTGGAGCAAGAAGAAGAAGA	0.522													---	572	---	---	9	---					
GABRR2	2570	broad.mit.edu	37	6	89975427	89975429	+	In_Frame_Del	DEL	AAG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr6:89975427_89975429delAAG	uc003pnb.2	-	6	875_877	c.867_869delCTT	c.(865-870)ttcttg>ttg	p.F289del	GABRR2_uc011dzx.1_In_Frame_Del_p.F165del	NM_002043	NP_002034	P28476	GBRR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA.	289					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TGTTTGGAGCAAGAAGAAGAAGA	0.517													---	386	---	---	13	---					
UFL1	23376	broad.mit.edu	37	6	96999786	96999786	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr6:96999786delA	uc003por.3	+	16	2020	c.1972delA	c.(1972-1974)aaafs	p.K658fs	UFL1_uc010kck.3_Non-coding_Transcript	NM_015323	NP_056138	O94874	UFL1_HUMAN	Homo sapiens UFM1-specific ligase 1 (UFL1), mRNA.	658					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	UFM1 conjugating enzyme activity|protein binding										AAGGGGAGACAAAAAAAGGGA	0.338													---	481	---	---	9	---					
PHACTR2	9749	broad.mit.edu	37	6	144086413	144086414	+	Frame_Shift_Ins	INS	-	A	A			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr6:144086413_144086414insA	uc010khi.3	+	5	909_910	c.710_711insA	c.(709-711)tcafs	p.S237fs	PHACTR2_uc003qjq.4_Frame_Shift_Ins_p.S226fs|PHACTR2_uc010khh.3_Frame_Shift_Ins_p.S146fs|PHACTR2_uc003qjr.4_Frame_Shift_Ins_p.S157fs	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	226							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TCCTCTCATTCAAAAAAAACAA	0.396													---	641	---	---	8	---					
ICA1	3382	broad.mit.edu	37	7	8198250	8198251	+	Frame_Shift_Ins	INS	-	T	T			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr7:8198250_8198251insT	uc003sro.4	-	6	747_748	c.611_612insA	c.(610-612)aacfs	p.N204fs	ICA1_uc010ktr.3_Frame_Shift_Ins_p.N204fs|ICA1_uc003srm.3_Frame_Shift_Ins_p.N204fs|ICA1_uc003srn.4_Frame_Shift_Ins_p.N130fs|ICA1_uc003srq.3_Frame_Shift_Ins_p.N204fs|ICA1_uc003srr.3_Frame_Shift_Ins_p.N203fs|ICA1_uc010kts.3_Non-coding_Transcript|ICA1_uc003srs.1_Frame_Shift_Ins_p.N204fs	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	204	AH.				neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		p.N204fs*5(6)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		ATTTGTCAAAGTTTTTTTTTGC	0.376													---	326	---	---	9	---					
PCLO	27445	broad.mit.edu	37	7	82595406	82595406	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr7:82595406delT	uc003uhx.2	-	3	3987	c.3698delA	c.(3697-3699)aagfs	p.K1233fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.K1233fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1172					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAGGAGTGGCTTTTTTTCTTC	0.388													---	1340	---	---	9	---					
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr7:92146721delT	uc003uly.3	-	4	1204	c.1108delA	c.(1108-1110)attfs	p.I370fs	PEX1_uc011khr.2_Frame_Shift_Del_p.I162fs|PEX1_uc010ley.3_Frame_Shift_Del_p.I370fs|PEX1_uc011khs.2_Intron|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	370					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353													---	577	---	---	12	---					
SFTPC	6440	broad.mit.edu	37	8	22021060	22021061	+	Splice_Site	DEL	GT	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr8:22021060_22021061delGT	uc003xaw.4	+	7	1285	c.582_splice	c.e7+1	p.Q194_splice	SFTPC_uc003xax.4_Splice_Site_p.Q145_splice|SFTPC_uc003xay.4_Splice_Site_p.Q145_splice|SFTPC_uc003xaz.3_Splice_Site_p.Q145_splice|SFTPC_uc011kza.1_Intron|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	NM_001172357	NP_001165828	P11686	PSPC_HUMAN	Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.	145	BRICHOS.				respiratory gaseous exchange	extracellular space		p.M146fs*41(1)		autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CAACTTCCAGGTGTGTGTGTGT	0.545													---	166	---	---	7	---					
RAB11FIP1	80223	broad.mit.edu	37	8	37728932	37728933	+	Frame_Shift_Ins	INS	-	T	T			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr8:37728932_37728933insT	uc003xkm.2	-	3	3443_3444	c.3387_3388insA	c.(3385-3390)aaagccfs	p.K1129fs	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Frame_Shift_Ins_p.K458fs|RAB11FIP1_uc003xko.1_Frame_Shift_Ins_p.K458fs|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	1129					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCTGCTGTGGCTTTTTTTTGAG	0.545											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	1020	---	---	8	---					
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	G	G			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr8:110455173_110455174insG	uc003yne.3	+	36	4498	c.4394_splice	c.e36-1	p.G1465_splice		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1465	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)			---	420	---	---	9	---					
BC080605	0	broad.mit.edu	37	9	68414118	68414118	+	RNA	DEL	G	-	-	rs71221469		TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr9:68414118delG	uc004aex.3	+	0		c.673delG								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		GCTCACGAAAGCCCCCTGTGG	0.667													---	197	---	---	9	---					
LOC642236	642236	broad.mit.edu	37	9	68435876	68435877	+	RNA	INS	-	C	C	rs80198979	by1000genomes	TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr9:68435876_68435877insC	uc022bht.1	-	4		c.604_605insG								Homo sapiens FSHD region gene 1 pseudogene (LOC642236), non-coding RNA.																		GCATCTGAACGCCAACAACAAG	0.342													---	211	---	---	8	---					
LOC642236	642236	broad.mit.edu	37	9	68438558	68438559	+	Splice_Site	INS	-	T	T			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr9:68438558_68438559insT	uc022bht.1	-	4		c.541_splice	c.e4+1							Homo sapiens FSHD region gene 1 pseudogene (LOC642236), non-coding RNA.																		AGACACAAACCTTCTTTGTGTG	0.421													---	502	---	---	9	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr9:119976989_119976991delCAG	uc004bjt.2	-	2	762_764	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_uc022bml.1_5'UTR|ASTN2_uc022bmm.1_5'UTR	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601													---	305	---	---	8	---					
PRDM12	59335	broad.mit.edu	37	9	133543701	133543702	+	Splice_Site	DEL	GT	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr9:133543701_133543702delGT	uc004bzt.1	+	3	630	c.570_splice	c.e3+1	p.E190_splice		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	Homo sapiens PR domain containing 12 (PRDM12), mRNA.	190	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GGCCATTGAGGTGTGTGTGTGT	0.594													---	359	---	---	18	---					
KIAA1217	56243	broad.mit.edu	37	10	24822125	24822127	+	In_Frame_Del	DEL	GAA	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr10:24822125_24822127delGAA	uc001iru.4	+	15	3776_3778	c.3373_3375delGAA	c.(3373-3375)gaadel	p.E1129del	KIAA1217_uc001irs.3_In_Frame_Del_p.E1049del|KIAA1217_uc001irt.4_In_Frame_Del_p.E1094del|KIAA1217_uc010qcy.2_In_Frame_Del_p.E1093del|KIAA1217_uc010qcz.2_In_Frame_Del_p.E1094del|KIAA1217_uc001irw.3_In_Frame_Del_p.E812del|KIAA1217_uc001irz.3_In_Frame_Del_p.E812del|KIAA1217_uc001irx.3_In_Frame_Del_p.E812del|KIAA1217_uc001iry.3_In_Frame_Del_p.E812del	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1129					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGATGAGGAGGAAGAAGAAGAAG	0.552													---	346	---	---	10	---					
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr10:30316501_30316503delCTG	uc009xle.2	-	2	2711_2713	c.2574_2576delCAG	c.(2572-2577)agcagt>agt	p.858_859SS>S	KIAA1462_uc001iux.3_In_Frame_Del_p.858_859SS>S|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_In_Frame_Del_p.720_721SS>S	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	858	Ser-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571													---	457	---	---	17	---					
OR10A2	341276	broad.mit.edu	37	11	6891253	6891255	+	In_Frame_Del	DEL	TTC	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr11:6891253_6891255delTTC	uc001meu.1	+	0	268_270	c.268_270delTTC	c.(268-270)ttcdel	p.F94del		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGATGTATTTCTTCTTCTTCT	0.517													---	718	---	---	7	---					
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	Splice_Site	DEL	GT	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr11:14276276_14276277delGT	uc001mle.3	+	9	1357	c.1089_splice	c.e9+1	p.E363_splice		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	364	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594													---	256	---	---	7	---					
UVRAG	7405	broad.mit.edu	37	11	75694430	75694431	+	Splice_Site	INS	-	A	A			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr11:75694430_75694431insA	uc001oxc.3	+	8	941	c.700_splice	c.e8-1	p.K234_splice	UVRAG_uc010rrw.2_Splice_Site_p.K133_splice|UVRAG_uc001oxd.3_Splice_Site|UVRAG_uc010rrx.2_Splice_Site|UVRAG_uc009yuh.1_Splice_Site	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	234					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TATTTATTTAGAAAAAAAAAAG	0.302													---	154	---	---	8	---					
PVRL1	5818	broad.mit.edu	37	11	119535678	119535680	+	In_Frame_Del	DEL	CCT	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	177	---	---	7	---					
CHD4	1108	broad.mit.edu	37	12	6711546	6711546	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	1462	---	---	7	---					
FAM86FP	653113	broad.mit.edu	37	12	8384922	8384922	+	RNA	DEL	C	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr12:8384922delC	uc010sgk.2	-	4		c.866delG								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		GGCAGAAAGGCGGCACCCACA	0.388													---	30	---	---	8	---					
DDX12P	440081	broad.mit.edu	37	12	9573305	9573305	+	RNA	DEL	G	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr12:9573305delG	uc021qut.1	-	10		c.2093delC			DDX12P_uc001qvx.4_Intron|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		gagggagggagggagCCCCCA	0.582													---	132	---	---	17	---					
SLCO1B3	28234	broad.mit.edu	37	12	21028267	21028267	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr12:21028267delT	uc010sil.2	+	6	891	c.826delT	c.(826-828)tttfs	p.F276fs	SLCO1B3_uc001rek.3_Frame_Shift_Del_p.F276fs|SLCO1B3_uc001rel.3_Frame_Shift_Del_p.F276fs|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	276					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTCCATACCATTTTTTTTCTT	0.363													---	518	---	---	9	---					
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr12:29450110delA	uc001rit.3	+	3	790	c.522delA	c.(520-522)ccafs	p.P174fs	FAR2_uc001ris.4_Frame_Shift_Del_p.P174fs|FAR2_uc009zjm.3_Frame_Shift_Del_p.P77fs|AX746523_uc001riu.1_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	Homo sapiens fatty acyl CoA reductase 2 (FAR2), mRNA.	174					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388													---	700	---	---	10	---					
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr12:46320707_46320708delTC	uc001rox.3	-	10	3063_3064	c.2776_2777delGA	c.(2776-2778)gaafs	p.E926fs	SCAF11_uc001row.3_Frame_Shift_Del_p.E611fs|SCAF11_uc001roy.1_Frame_Shift_Del_p.E1000fs	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	926	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446													---	829	---	---	15	---					
SLC39A5	283375	broad.mit.edu	37	12	56628997	56628999	+	In_Frame_Del	DEL	CTG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr12:56628997_56628999delCTG	uc010sqj.2	+	6	948_950	c.691_693delCTG	c.(691-693)ctgdel	p.L234del	SLC39A5_uc010sqi.2_In_Frame_Del_p.L125del|SLC39A5_uc010sqk.2_In_Frame_Del_p.L234del	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	234					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCCCTATCCCTGCTGCTGCTGC	0.635													---	1106	---	---	7	---					
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr12:72094757delT	uc001sws.3	+	5	1576	c.993delT	c.(991-993)ggtfs	p.G331fs		NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	331						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433													---	884	---	---	8	---					
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr12:121134166_121134168delGAA	uc001tyy.1	+	4	848_850	c.697_699delGAA	c.(697-699)gaadel	p.E238del		NM_014730	NP_055545	Q14165	MLEC_HUMAN	Homo sapiens malectin (MLEC), mRNA.	238	Poly-Glu.				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458													---	845	---	---	18	---					
TEP1	7011	broad.mit.edu	37	14	20852647	20852647	+	Frame_Shift_Del	DEL	C	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr14:20852647delC	uc001vxe.3	-	22	3282	c.3242delG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_uc010ahk.3_Frame_Shift_Del_p.G431fs|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Frame_Shift_Del_p.G973fs|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1081					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGCTGCCACACCCCCCCACTC	0.587													---	1212	---	---	10	---					
MAX	4149	broad.mit.edu	37	14	65472891	65472892	+	Splice_Site	DEL	TG	-	-	rs74781178		TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr14:65472891_65472892delTG	uc001xic.1	-	4	452	c.282_splice	c.e4+1		CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|CHURC1-FNTB_uc001xia.3_Intron	NM_197957	NP_932061	P61244	MAX_HUMAN	Homo sapiens MYC associated factor X (MAX), transcript variant 6, mRNA.						transcription from RNA polymerase II promoter	MLL1 complex|cytoplasm	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		TTTTTTTTTTTGCCACCATTTC	0.366													---	546	---	---	8	---					
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	693	---	---	9	---					
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr14:73572607_73572608delAG	uc010ttu.2	+	11	1471_1472	c.1195_1196delAG	c.(1195-1197)agafs	p.R399fs	RBM25_uc001xno.3_Frame_Shift_Del_p.R399fs|RBM25_uc001xnp.3_Frame_Shift_Del_p.R194fs	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446													---	124	---	---	8	---					
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	-	-	rs139532153		TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr14:89629149_89629151delGAG	uc001xxo.4	-	6	1217_1219	c.1080_1082delCTC	c.(1078-1083)tcctca>tca	p.360_361SS>S	FOXN3_uc001xxn.4_In_Frame_Del_p.338_339SS>S|FOXN3_uc010atk.3_In_Frame_Del_p.338_339SS>S	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	360					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.650													---	251	---	---	7	---					
C14orf49	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr14:95921888_95921890delCTC	uc001yei.4	-	4	976_978	c.961_963delGAG	c.(961-963)gagdel	p.E321del	C14orf49_uc010avi.3_In_Frame_Del_p.E321del|C14orf49_uc001yej.1_In_Frame_Del_p.E321del	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	321					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CCCGCAGCCGCTCCTCCTCCTCC	0.616													---	692	---	---	7	---					
abParts	0	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	AGTAATACACGGCA	AGTAATACACGGCA			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr14:106774086_106774087insAGTAATACACGGCA	uc021ser.1	-	684		c.18723_splice	c.e684+1							Parts of antibodies, mostly variable regions.																		GCCTCTTGCACGTGTCCTCAGC	0.550													---	46	---	---	11	---					
abParts	0	broad.mit.edu	37	14	106877821	106877826	+	RNA	DEL	CTACTG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr14:106877821_106877826delCTACTG	uc021ser.1	-	409		c.13099_13104delCAGTAG								Parts of antibodies, mostly variable regions.																		GTAGTAACTACTACTGCTGATGGAGC	0.607													---	510	---	---	11	---					
SRP14	6727	broad.mit.edu	37	15	40328597	40328599	+	In_Frame_Del	DEL	TGC	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr15:40328597_40328599delTGC	uc001zkq.2	-	4	418_420	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14_uc001zkr.2_3'UTR|LOC100131089_uc021sjc.1_5'Flank|LOC100131089_uc021sjd.1_5'Flank|LOC100131089_uc021sje.1_5'Flank|LOC100131089_uc001zks.2_5'Flank	NM_003134	NP_003125	P37108	SRP14_HUMAN	Homo sapiens signal recognition particle 14kDa (homologous Alu RNA binding protein) (SRP14), mRNA.	116	Ala/Thr-rich.				SRP-dependent cotranslational protein targeting to membrane|negative regulation of translational elongation|response to drug	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478													---	333	---	---	10	---					
ZFP106	64397	broad.mit.edu	37	15	42742957	42742957	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr15:42742957delA	uc001zpw.3	-	1	1771	c.1444delT	c.(1444-1446)tccfs	p.S482fs	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Frame_Shift_Del_p.S265fs|ZFP106_uc001zpy.1_Frame_Shift_Del_p.S505fs	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	482						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TCTCCAGGGGAAAAAAAATTT	0.393													---	1156	---	---	8	---					
SPATA5L1	79029	broad.mit.edu	37	15	45710840	45710841	+	Frame_Shift_Ins	INS	-	T	T			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr15:45710840_45710841insT	uc001zve.3	+	6	2163_2164	c.2054_2055insT	c.(2053-2055)tgtfs	p.C685fs	SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	685						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GCAGAAACCTGTTTTTTTTCTG	0.361													---	331	---	---	9	---					
NOX5	79400	broad.mit.edu	37	15	69331226	69331226	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr15:69331226delT	uc002ars.2	+	8	1442	c.1401delT	c.(1399-1401)cctfs	p.P467fs	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Frame_Shift_Del_p.P421fs|NOX5_uc002arp.2_Frame_Shift_Del_p.P449fs|NOX5_uc010bid.2_Frame_Shift_Del_p.P432fs|NOX5_uc010bie.2_Frame_Shift_Del_p.P267fs|NOX5_uc002arr.2_Frame_Shift_Del_p.P439fs|NOX5_uc010bif.2_Intron	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	467	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity	p.H452fs*10(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGCGGCCCCCTTTTTTTCACT	0.537													---	884	---	---	12	---					
TNRC6A	27327	broad.mit.edu	37	16	24807240	24807240	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr16:24807240delA	uc002dmm.3	+	8	3655	c.3541delA	c.(3541-3543)aaafs	p.K1181fs	TNRC6A_uc010bxs.3_Frame_Shift_Del_p.K928fs|TNRC6A_uc010vcc.1_Frame_Shift_Del_p.K928fs|TNRC6A_uc002dmn.3_Frame_Shift_Del_p.K928fs|TNRC6A_uc002dmo.3_Frame_Shift_Del_p.K869fs	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	1181	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTGAGTGGCAAAAAAAGGAG	0.398													---	828	---	---	15	---					
APOBR	55911	broad.mit.edu	37	16	28507398	28507424	+	In_Frame_Del	DEL	GGGACAGCCTCAGGAGGGGAGGAGGCC	-	-	rs71657822		TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr16:28507398_28507424delGGGACAGCCTCAGGAGGGGAGGAGGCC	uc002dqb.2	+	1	1069_1095	c.1036_1062delGGGACAGCCTCAGGAGGGGAGGAGGCC	c.(1036-1062)gggacagcctcaggaggggaggaggccdel	p.GTASGGEEA355del	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_5'UTR	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	355	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		p.G360E(1)|p.D361D(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CGGGGAGGCTGGGACAGCCTCAGGAGGGGAGGAGGCCGGGACAGCCT	0.705													---	79	---	---	20	---					
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr16:67300017_67300019delGAG	uc002esm.3	+	14	2170_2172	c.2107_2109delGAG	c.(2107-2109)gagdel	p.E708del	SLC9A5_uc010cee.3_In_Frame_Del_p.E413del|SLC9A5_uc010vji.2_In_Frame_Del_p.E212del	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	708					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571													---	316	---	---	8	---					
NFAT5	10725	broad.mit.edu	37	16	69726420	69726422	+	In_Frame_Del	DEL	CAG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	301	---	---	7	---					
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	511	---	---	7	---					
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	-	-	rs4788682	by1000genomes	TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	501	---	---	13	---					
ADAMTS18	170692	broad.mit.edu	37	16	77334227	77334228	+	Frame_Shift_Ins	INS	-	G	G	rs148849944	by1000genomes	TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr16:77334227_77334228insG	uc002ffc.4	-	16	3025_3026	c.2606_2607insC	c.(2605-2607)ccafs	p.P869fs	ADAMTS18_uc010chc.1_Frame_Shift_Ins_p.P457fs|ADAMTS18_uc002ffe.1_Frame_Shift_Ins_p.P565fs	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	869	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						TTTTTGTGGCTGGTGGAGTTCC	0.460													---	461	---	---	8	---					
ANKRD11	29123	broad.mit.edu	37	16	89349640	89349641	+	Frame_Shift_Ins	INS	-	T	T			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr16:89349640_89349641insT	uc002fmx.1	-	8	3770_3771	c.3309_3310insA	c.(3307-3312)aaagatfs	p.K1103fs	ANKRD11_uc002fmy.1_Frame_Shift_Ins_p.K1103fs|ANKRD11_uc002fnc.1_Frame_Shift_Ins_p.K1103fs|ANKRD11_uc002fnb.1_Frame_Shift_Ins_p.K1060fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1103	Lys-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)		TTCTTGTCATCTTTTTTTTCAG	0.465													---	892	---	---	11	---					
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	1274	---	---	7	---					
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr17:38978766_38978768delTCC	uc002hvi.3	-	0	96_98	c.70_72delGGA	c.(70-72)ggadel	p.G24del	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.	24	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)				ctcctccacatcctcctcctcct	0.547													---	227	---	---	13	---					
COIL	8161	broad.mit.edu	37	17	55028117	55028118	+	Frame_Shift_Ins	INS	-	T	T			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr17:55028117_55028118insT	uc002iuu.3	-	1	516_517	c.485_486insA	c.(484-486)aacfs	p.N162fs		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	162						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TTTTTCTCTTGTTTTTTTTGCT	0.366													---	667	---	---	20	---					
NEDD4L	23327	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr18:55992284_55992286delTCC	uc002lgy.3	+	8	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_uc002lgz.3_In_Frame_Del_p.P194del|NEDD4L_uc002lgx.3_In_Frame_Del_p.P194del|NEDD4L_uc010xee.1_In_Frame_Del_p.P73del|NEDD4L_uc002lhc.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhd.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhb.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhe.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhf.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhg.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhh.2_In_Frame_Del_p.P73del|NEDD4L_uc010dpm.1_In_Frame_Del_p.P45del	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	194	WW 1.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498													---	941	---	---	14	---					
DNMT1	1786	broad.mit.edu	37	19	10262139	10262139	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr19:10262139delT	uc002mng.3	-	22	2332	c.2152delA	c.(2152-2154)atgfs	p.M718fs	DNMT1_uc010xlc.2_Frame_Shift_Del_p.M734fs|DNMT1_uc002mnh.3_Frame_Shift_Del_p.M613fs|DNMT1_uc010xld.2_Frame_Shift_Del_p.M718fs	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	718					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCCTGGTGCATTTTTTTGGGT	0.507													---	870	---	---	8	---					
ZNF569	148266	broad.mit.edu	37	19	37903917	37903917	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr19:37903917delT	uc002ogj.3	-	8	2647	c.1715delA	c.(1714-1716)aagfs	p.K572fs	ZNF569_uc002ogh.3_Frame_Shift_Del_p.K389fs|ZNF569_uc002ogi.3_Frame_Shift_Del_p.K548fs	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCATAAGGCTTTTCCCCTGT	0.388													---	604	---	---	7	---					
ZFP36	7538	broad.mit.edu	37	19	39898948	39898950	+	In_Frame_Del	DEL	CAC	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	1136	---	---	7	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr19:47935681_47935683delTCC	uc010ele.3	-	7	2146_2148	c.2130_2132delGGA	c.(2128-2133)gaggac>gac	p.E710del	SLC8A2_uc002pgx.3_In_Frame_Del_p.E710del|SLC8A2_uc010xyq.2_In_Frame_Del_p.E466del|SLC8A2_uc010xyr.2_In_Frame_Del_p.E173del			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													---	628	---	---	9	---					
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	307	---	---	10	---					
BRSK1	84446	broad.mit.edu	37	19	55815036	55815036	+	Splice_Site	DEL	C	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr19:55815036delC	uc002qkf.3	+	14	1302	c.1175_splice	c.e14-1	p.D392_splice	BRSK1_uc002qkg.3_Splice_Site_p.D376_splice|BRSK1_uc002qkh.3_Splice_Site_p.D71_splice|Mir_324_uc021vbt.1_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	376					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.R379fs*9(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GTCCCTCAGACCCCCCCCGGA	0.582													---	451	---	---	11	---					
DSTN	11034	broad.mit.edu	37	20	17581679	17581680	+	Frame_Shift_Ins	INS	-	T	T			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr20:17581679_17581680insT	uc002wpr.3	+	1	555_556	c.300_301insT	c.(298-303)atgtttfs	p.M100fs	DSTN_uc002wpq.3_Frame_Shift_Ins_p.M83fs|DSTN_uc010gck.3_Frame_Shift_Ins_p.M83fs	NM_006870	NP_001011546	P60981	DEST_HUMAN	Homo sapiens destrin (actin depolymerizing factor) (DSTN), transcript variant 1, mRNA.	100	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AAGAGTTGATGTTTTTTTTGTG	0.356													---	387	---	---	13	---					
ZNF337	26152	broad.mit.edu	37	20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr20:25657231_25657232delTG	uc002wva.3	-	3	1214_1215	c.692_693delCA	c.(691-693)acafs	p.T231fs	ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Frame_Shift_Del_p.T199fs|ZNF337_uc002wvc.3_Frame_Shift_Del_p.T231fs	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTCTCTCCTGTGTGTGTGTT	0.510													---	445	---	---	7	---					
KIF3B	9371	broad.mit.edu	37	20	30898763	30898765	+	In_Frame_Del	DEL	GAG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	232	---	---	8	---					
LPIN3	64900	broad.mit.edu	37	20	39981287	39981287	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr20:39981287delA	uc010ggh.3	+	9	1499	c.1408delA	c.(1408-1410)aaafs	p.K470fs	LPIN3_uc002xjx.3_Frame_Shift_Del_p.K469fs|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	469					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	p.N470Y(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GGACCTCACCAAAAACCCCGG	0.562													---	1399	---	---	7	---					
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr21:34799292delT	uc002yrp.4	+	3	1162	c.514delT	c.(514-516)tttfs	p.F172fs		NM_005534	NP_005525	P38484	INGR2_HUMAN	Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	172	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													---	1654	---	---	9	---					
UMODL1	89766	broad.mit.edu	37	21	43496114	43496114	+	Splice_Site	DEL	A	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr21:43496114delA	uc002zag.1	+	2	77	c.77_splice	c.e2-1	p.E26_splice	UMODL1_uc002zad.1_Splice_Site|UMODL1_uc002zae.1_Splice_Site|UMODL1_uc002zaf.1_Splice_Site_p.E26_splice|AX748362_uc002zah.1_Non-coding_Transcript	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	26						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCTCTTTCAGAAAAAGGCCTC	0.567													---	996	---	---	7	---					
HIRA	7290	broad.mit.edu	37	22	19373136	19373138	+	In_Frame_Del	DEL	GCT	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	308	---	---	9	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	-	-	rs141985009	byFrequency	TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	617	---	---	7	---					
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr22:41650469_41650471delTCC	uc003azs.3	-	9	2571_2573	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	RANGAP1_uc003azt.3_In_Frame_Del_p.367_368EE>E|RANGAP1_uc003azu.3_In_Frame_Del_p.367_368EE>E|RANGAP1_uc011aoz.2_In_Frame_Del_p.312_313EE>E	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	367	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562													---	653	---	---	11	---					
TCF20	6942	broad.mit.edu	37	22	42605990	42605992	+	In_Frame_Del	DEL	CTG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chr22:42605990_42605992delCTG	uc003bcj.1	-	0	5454_5456	c.5320_5322delCAG	c.(5320-5322)cagdel	p.Q1774del	TCF20_uc003bck.1_In_Frame_Del_p.Q1774del	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1774					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						TCTGCTCCTTCTGCTGCTGCTGC	0.601													---	561	---	---	7	---					
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	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													---	823	---	---	14	---					
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chrX:21627678_21627680delGAG	uc004czx.2	+	19	3115_3117	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_uc004czw.3_In_Frame_Del_p.E886del|CNKSR2_uc011mjn.2_In_Frame_Del_p.E837del|CNKSR2_uc011mjo.2_In_Frame_Del_p.E856del|CNKSR2_uc004czy.3_In_Frame_Del_p.E478del	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	886	Poly-Glu.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517													---	124	---	---	7	---					
PRRG1	5638	broad.mit.edu	37	X	37312611	37312611	+	Frame_Shift_Del	DEL	C	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chrX:37312611delC	uc004ddn.3	+	4	647	c.394delC	c.(394-396)cccfs	p.P132fs	PRRG1_uc004ddo.3_Frame_Shift_Del_p.P132fs|PRRG1_uc022buu.1_Frame_Shift_Del_p.P132fs|PRRG1_uc022buv.1_Frame_Shift_Del_p.P132fs	NM_000950	NP_001166961	O14668	TMG1_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 1 (PRRG1), transcript variant 1, mRNA.	132	Poly-Pro.					extracellular region|integral to plasma membrane	calcium ion binding	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TATCACCCCACCCCCCCCACC	0.488													---	462	---	---	7	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	-	-	rs78182391		TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	uc010njt.3	-	0						NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			---	31	---	---	12	---					
FAM120C	54954	broad.mit.edu	37	X	54209302	54209303	+	In_Frame_Ins	INS	-	GGCGGC	GGCGGC			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chrX:54209302_54209303insGGCGGC	uc004dsz.4	-	0	412_413	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_uc011moh.2_In_Frame_Ins_p.110_110P>PPP|FAM120C_uc004dta.2_In_Frame_Ins_p.110_110P>PPP	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	110										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748													---	13	---	---	8	---					
GNL3L	54552	broad.mit.edu	37	X	54578339	54578341	+	In_Frame_Del	DEL	GAA	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chrX:54578339_54578341delGAA	uc022bxi.1	+	11	1369_1371	c.1113_1115delGAA	c.(1111-1116)gggaag>ggg	p.K375del	GNL3L_uc004dti.3_Non-coding_Transcript|GNL3L_uc004dth.2_In_Frame_Del_p.K375del	NM_001184819	NP_061940	Q9NVN8	GNL3L_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar)-like (GNL3L), transcript variant 1, mRNA.	375					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCGTTTGGGGAAGAAGAAGAAG	0.557													---	235	---	---	9	---					
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	RNA	DEL	AC	-	-			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chrX:73047124_73047125delAC	uc004ebn.2	+	0		c.35085_35086delAC			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GCCACACATGACACACACACAC	0.470													---	325	---	---	8	---					
XIST	7503	broad.mit.edu	37	X	73071845	73071846	+	RNA	INS	-	A	A			TCGA-F2-7276-01A-11D-2154-08	TCGA-F2-7276-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc12b1a6-7f32-40c4-950c-e99392389a8e	b1a1bd8b-59e5-47d3-8a7f-65495eaacb3f	g.chrX:73071845_73071846insA	uc004ebm.1	-	0		c.743_744insT								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GATGGGCGATGAAAAAAAAAAA	0.411													---	89	---	---	7	---					
