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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
GNB1	2782	broad.mit.edu	37	1	1722017	1722018	+	Frame_Shift_Ins	INS	-	-	AGATTGCTAAATT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:1722017_1722018insAGATTGCTAAATT	ENST00000378609.4	-	9	846_847	c.515_516insAATTTAGCAATCT	c.(514-516)gagfs	p.-172fs		NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	NA					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GCTGGCCGGTCTCGATGTCCCA	0.535		NA											False	0	False	1:1722017	0
EXTL2	2135	broad.mit.edu	37	1	101339575	101339576	+	Frame_Shift_Ins	INS	-	-	ATGTATTTTTTTAAGCAAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:101339575_101339576insATGTATTTTTTTAAGCAAC	ENST00000370114.3	-	5	2351_2352	c.915_916insGTTGCTTAAAAAAATACAT	c.(913-918)gatagcfs	p.S306fs	EXTL2_ENST00000370113.3_Frame_Shift_Ins_p.S306fs|EXTL2_ENST00000535414.1_Frame_Shift_Ins_p.S293fs	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	306					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		AAGGGCATGCTATCATAGATAT	0.351		NA											False	0	False	1:101339575	0
SORT1	6272	broad.mit.edu	37	1	109888457	109888458	+	Frame_Shift_Ins	INS	-	-	GTTATATTTAGTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:109888457_109888458insGTTATATTTAGTA	ENST00000256637.6	-	8	936_937	c.878_879insTACTAAATATAAC	c.(877-879)ggafs	p.-293fs	SORT1_ENST00000538502.1_Frame_Shift_Ins_p.-156fs	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	NA					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TGAAGCTTTTTCCCAAGTCTGA	0.396		NA											False	0	True	1:109888457	0
CCAR1	55749	broad.mit.edu	37	10	70531138	70531139	+	In_Frame_Ins	INS	-	-	TAGCCAAATTTCAACAGAAATAAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:70531138_70531139insTAGCCAAATTTCAACAGAAATAAT	ENST00000265872.6	+	18	2593_2594	c.2474_2475insTAGCCAAATTTCAACAGAAATAAT	c.(2473-2478)ccaaaa>ccTAGCCAAATTTCAACAGAAATAATaaaa	p.825_826PK>PSQISTEIIK	CCAR1_ENST00000543719.1_In_Frame_Ins_p.810_811PK>PSQISTEIIK|CCAR1_ENST00000535016.1_In_Frame_Ins_p.810_811PK>PSQISTEIIK	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	825	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						actgatgaaccaaaacccaaac	0.327		NA											False	0	True	10:70531138	0
KCNMA1	3778	broad.mit.edu	37	10	78647200	78647201	+	In_Frame_Ins	INS	-	-	CCCCCCTTTTTTTTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:78647200_78647201insCCCCCCTTTTTTTTT	ENST00000286627.5	-	27	4312_4313	c.3360_3361insAAAAAAAAAGGGGGG	c.(3358-3363)tttgac>tttAAAAAAAAAGGGGGGgac	p.1120_1121FD>FKKKGGD	KCNMA1_ENST00000404771.3_In_Frame_Ins_p.1178_1179FD>FKKKGGD|KCNMA1_ENST00000286628.8_In_Frame_Ins_p.1178_1179FD>FKKKGGD|KCNMA1_ENST00000404857.1_In_Frame_Ins_p.1161_1162FD>FKKKGGD|KCNMA1_ENST00000406533.3_In_Frame_Ins_p.1182_1183FD>FKKKGGD|KCNMA1_ENST00000354353.5_In_Frame_Ins_p.1181_1182FD>FKKKGGD|KCNMA1_ENST00000372440.1_In_Frame_Ins_p.1120_1121FD>FKKKGGD|KCNMA1_ENST00000372443.1_In_Frame_Ins_p.1147_1148FD>FKKKGGD	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1178					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GCATTGTGGTCAAACTGCATTA	0.569		NA											False	0	True	10:78647200	0
PAPSS2	9060	broad.mit.edu	37	10	89501117	89501118	+	Frame_Shift_Ins	INS	-	-	CATTGTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:89501117_89501118insCATTGTT	ENST00000361175.4	+	9	1566_1567	c.1197_1198insCATTGTT	c.(1198-1200)atgfs	p.M400fs	PAPSS2_ENST00000427144.2_Frame_Shift_Ins_p.M404fs|PAPSS2_ENST00000456849.1_Frame_Shift_Ins_p.M405fs	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	400					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		AATGTAAAGAAATGAATGCTGG	0.426		NA											False	0	True	10:89501117	0
PKD2L1	9033	broad.mit.edu	37	10	102057321	102057336	+	Frame_Shift_Del	DEL	GTGGGAGAAGCCCCCC	GTGGGAGAAGCCCCCC	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	GTGGGAGAAGCCCCCC	GTGGGAGAAGCCCCCC	-	-	GTGGGAGAAGCCCCCC	GTGGGAGAAGCCCCCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:102057321_102057336delGTGGGAGAAGCCCCCC	ENST00000318222.3	-	5	1141_1156	c.759_774delGGGGGGCTTCTCCCAC	c.(757-774)ttggggggcttctcccacfs	p.LGGFSH253fs	PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Frame_Shift_Del_p.LGGFSH253fs	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	253					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	p.G255fs*64(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GCCTGCCCCAGTGGGAGAAGCCCCCCAACTCATCCT	0.583		NA											False	1	False	10:102057321	0
XPNPEP1	7511	broad.mit.edu	37	10	111637623	111637624	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:111637623_111637624insGA	ENST00000502935.1	-	14	1362_1363	c.1243_1244insTC	c.(1243-1245)caafs	p.Q415fs	XPNPEP1_ENST00000369680.4_Frame_Shift_Ins_p.Q372fs|XPNPEP1_ENST00000369683.1_Frame_Shift_Ins_p.Q301fs|XPNPEP1_ENST00000322238.8_Frame_Shift_Ins_p.Q415fs			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	372					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GTCTGCCTGTTGCCTGTAACAG	0.5		NA											False	0	True	10:111637623	0
ST5	6764	broad.mit.edu	37	11	8717060	8717061	+	In_Frame_Ins	INS	-	-	ATACTGGGG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:8717060_8717061insATACTGGGG	ENST00000526099.1	-	16	1969_1970	c.1867_1868insCCCCAGTAT	c.(1867-1869)gaa>gCCCCAGTATaa	p.623_623E>APV*	RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000313726.6_In_Frame_Ins_p.1110_1110E>APV*|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000534278.1_In_Frame_Ins_p.301_301E>APV*|ST5_ENST00000530991.1_In_Frame_Ins_p.582_582E>APV*|ST5_ENST00000357665.1_In_Frame_Ins_p.1110_1110E>APV*|ST5_ENST00000534127.1_In_Frame_Ins_p.1110_1110E>APV*|ST5_ENST00000526757.1_In_Frame_Ins_p.690_690E>APV*|ST5_ENST00000530438.1_In_Frame_Ins_p.690_690E>APV*			P78524	ST5_HUMAN	suppression of tumorigenicity 5	1110					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GTCTGGGAGTTCTTCTAAGTAC	0.485		NA											False	0	False	11:8717060	0
ST5	6764	broad.mit.edu	37	11	8752684	8752685	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:8752684_8752685insA	ENST00000534127.1	-	6	537_538	c.152_153insT	c.(151-153)gaafs	p.E51fs	ST5_ENST00000313726.6_Frame_Shift_Ins_p.E51fs|ST5_ENST00000357665.1_Frame_Shift_Ins_p.E51fs|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	51	Pro-rich.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AGGCTGAGGTTTCACTATCACT	0.584		NA											False	0	True	11:8752684	0
ST5	6764	broad.mit.edu	37	11	8752685	8752686	+	Frame_Shift_Ins	INS	-	-	TTGGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:8752685_8752686insTTGGA	ENST00000534127.1	-	6	536_537	c.151_152insTCCAA	c.(151-153)gaafs	p.E51fs	ST5_ENST00000313726.6_Frame_Shift_Ins_p.E51fs|ST5_ENST00000357665.1_Frame_Shift_Ins_p.E51fs|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	51	Pro-rich.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGCTGAGGTTTCACTATCACTG	0.579		NA											False	0	True	11:8752685	0
USP47	55031	broad.mit.edu	37	11	11974420	11974421	+	Splice_Site	INS	-	-	CATCATTCTATTTCCTCTG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:11974420_11974421insCATCATTCTATTTCCTCTG	ENST00000339865.5	+	24	4273		c.e24+2		USP47_ENST00000539466.1_Splice_Site|USP47_ENST00000527733.1_Splice_Site|USP47_ENST00000305481.6_Splice_Site|USP47_ENST00000399455.2_Splice_Site	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	NA					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CGAGAGAAGGTAAGTTCATTTT	0.342		NA											False	0	False	11:11974420	0
DNAJC24	120526	broad.mit.edu	37	11	31451923	31451924	+	Frame_Shift_Ins	INS	-	-	ACCC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:31451923_31451924insACCC	ENST00000465995.1	+	5	531_532	c.425_426insACCC	c.(424-429)attatafs	p.I143fs		NM_181706.4	NP_859057.4	Q6P3W2	DJC24_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 24	142					protein folding		heat shock protein binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2)	11						TGTTCACTAATTATAGAACTCC	0.366		NA											False	0	False	11:31451923	0
DNAJC24	120526	broad.mit.edu	37	11	31451924	31451925	+	Frame_Shift_Ins	INS	-	-	TAAAAGGTGCAGAGTTTATTCC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:31451924_31451925insTAAAAGGTGCAGAGTTTATTCC	ENST00000465995.1	+	5	532_533	c.426_427insTAAAAGGTGCAGAGTTTATTCC	c.(427-429)atafs	p.I143fs		NM_181706.4	NP_859057.4	Q6P3W2	DJC24_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 24	142					protein folding		heat shock protein binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2)	11						GTTCACTAATTATAGAACTCCT	0.366		NA											False	0	False	11:31451924	0
MAGI3	260425	broad.mit.edu	37	1	114128213	114128214	+	In_Frame_Ins	INS	-	-	TTACTAATGTTG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:114128213_114128214insTTACTAATGTTG	ENST00000307546.9	+	4	833_834	c.758_759insTTACTAATGTTG	c.(757-762)aacgca>aaTTACTAATGTTGcgca	p.253_254NA>NY*CCA	MAGI3_ENST00000369617.4_In_Frame_Ins_p.253_254NA>NY*CCA|MAGI3_ENST00000369615.1_In_Frame_Ins_p.253_254NA>NY*CCA|MAGI3_ENST00000369611.4_In_Frame_Ins_p.253_254NA>NY*CCA	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	253	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCAGTGGAAACGCAGGTTTGT	0.356		NA											False	0	True	1:114128213	0
CASQ2	845	broad.mit.edu	37	1	116243875	116243877	+	In_Frame_Del	DEL	TCG	TCG	-	rs7413162	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:116243875_116243877delTCG	ENST00000261448.5	-	11	1424_1426	c.1185_1187delCGA	c.(1183-1188)gacgat>gat	p.395_396DD>D	CASQ2_ENST00000456138.2_In_Frame_Del_p.324_325DD>D	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	395	Asp/Glu-rich (acidic).				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		Ttcatcatcatcgtcatcactgt	0.404		NA											False	1	True	1:116243875	0
CD2	914	broad.mit.edu	37	1	117297419	117297420	+	In_Frame_Ins	INS	-	-	TTACTGAGAGTC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:117297419_117297420insTTACTGAGAGTC	ENST00000369478.3	+	2	336_337	c.228_229insTTACTGAGAGTC	c.(229-231)act>TTACTGAGAGTCact	p.76_77insLLRV	CD2_ENST00000369477.1_In_Frame_Ins_p.76_77insLLRV	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	76	Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AAGAGAAAGAGACTTTCAAGGA	0.307		NA											False	0	False	1:117297419	0
NXF1	10482	broad.mit.edu	37	11	62564003	62564004	+	Frame_Shift_Ins	INS	-	-	AGCTTAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:62564003_62564004insAGCTTAG	ENST00000532297.1	-	15	1843_1844	c.1214_1215insCTAAGCT	c.(1213-1215)gggfs	p.-405fs	NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Frame_Shift_Ins_p.-405fs			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	NA					gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATCCAGGAGCCCTTGTCGGTC	0.51		NA											False	0	True	11:62564003	0
PELI3	246330	broad.mit.edu	37	11	66236318	66236319	+	Frame_Shift_Ins	INS	-	-	GATTATT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:66236318_66236319insGATTATT	ENST00000320740.7	+	3	327_328	c.167_168insGATTATT	c.(166-171)ggaggtfs	p.G57fs	PELI3_ENST00000349459.6_Intron|PELI3_ENST00000524466.1_Frame_Shift_Ins_p.G57fs|PELI3_ENST00000531856.1_Intron	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	57						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						tgtgaggaaggaggtgaggaaa	0.53		NA											False	0	True	11:66236318	0
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000530235.1_Intron	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
CCDC83	220047	broad.mit.edu	37	11	85627207	85627208	+	Frame_Shift_Ins	INS	-	-	TTAATTATGTATACATTTTGAACATATAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:85627207_85627208insTTAATTATGTATACATTTTGAACATATAC	ENST00000280245.4	+	11	1616_1617	c.1104_1105insTTAATTATGTATACATTTTGAACATATAC	c.(1105-1107)aacfs	p.N369fs	CCDC83_ENST00000376067.1_Frame_Shift_Ins_p.N238fs|CCDC83_ENST00000342404.3_Frame_Shift_Ins_p.N338fs	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	338										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ATAAAGAGGAAAACTCAGGCAC	0.376		NA											False	0	True	11:85627207	0
ANKRD49	54851	broad.mit.edu	37	11	94230103	94230104	+	In_Frame_Ins	INS	-	-	GTATTCCAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:94230103_94230104insGTATTCCAT	ENST00000544253.1	+	2	362_363	c.244_245insGTATTCCAT	c.(244-246)gct>gGTATTCCATct	p.82_82A>GIPS	ANKRD49_ENST00000540349.1_In_Frame_Ins_p.82_82A>GIPS|ANKRD49_ENST00000544612.1_In_Frame_Ins_p.82_82A>GIPS|ANKRD49_ENST00000302755.4_In_Frame_Ins_p.82_82A>GIPS			Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	82					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCTTTGGGCTGCTGAAAAAAAT	0.396		NA											False	0	False	11:94230103	0
RP11-693N9.2	0	broad.mit.edu	37	11	104776340	104776341	+	RNA	INS	-	-	AGAAGAATTTGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:104776340_104776341insAGAAGAATTTGT	ENST00000532510.1	-	0	3091_3092										NA											NA						TTTTTTGTTTACATTTTTGTTT	0.361		NA											False	0	False	11:104776340	0
OR6T1	219874	broad.mit.edu	37	11	123813849	123813850	+	In_Frame_Ins	INS	-	-	TCCGCAATGACA	rs76651236	by1000genomes	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:123813849_123813850insTCCGCAATGACA	ENST00000321252.2	-	1	730_731	c.696_697insTGTCATTGCGGA	c.(694-699)gctgag>gctTGTCATTGCGGAgag	p.232_233AE>ACHCGE		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A232A(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTCCTTCGCTCAGCAGCTGTAG	0.51		NA											False	0	False	11:123813849	0
WNK1	65125	broad.mit.edu	37	12	970306	970307	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:970306_970307insG	ENST00000315939.6	+	7	2391_2392	c.1748_1749insG	c.(1747-1752)aagcagfs	p.Q584fs	WNK1_ENST00000340908.4_Frame_Shift_Ins_p.Q177fs|WNK1_ENST00000537687.1_Frame_Shift_Ins_p.Q584fs|WNK1_ENST00000530271.2_Frame_Shift_Ins_p.Q584fs|WNK1_ENST00000535572.1_Frame_Shift_Ins_p.Q584fs	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	584					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.K583N(2)|p.?(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GAAAAAAAAAAGCAGGAAGAGA	0.47		NA											False	1	True	12:970306	0
WNK1	65125	broad.mit.edu	37	12	970308	970309	+	In_Frame_Ins	INS	-	-	ATTGTAAAAAAAGTAGAGAAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:970308_970309insATTGTAAAAAAAGTAGAGAAG	ENST00000315939.6	+	7	2393_2394	c.1750_1751insATTGTAAAAAAAGTAGAGAAG	c.(1750-1752)cag>cATTGTAAAAAAAGTAGAGAAGag	p.584_584Q>HCKKSREE	WNK1_ENST00000340908.4_In_Frame_Ins_p.177_177Q>HCKKSREE|WNK1_ENST00000537687.1_In_Frame_Ins_p.584_584Q>HCKKSREE|WNK1_ENST00000530271.2_In_Frame_Ins_p.584_584Q>HCKKSREE|WNK1_ENST00000535572.1_In_Frame_Ins_p.584_584Q>HCKKSREE	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	584					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AAAAAAAAAGCAGGAAGAGAGC	0.47		NA											False	0	False	12:970308	0
FAM90A1	55138	broad.mit.edu	37	12	8374781	8374782	+	In_Frame_Ins	INS	-	-	ACG	rs138330958	by1000genomes	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:8374781_8374782insACG	ENST00000538603.1	-	7	1589_1590	c.1031_1032insCGT	c.(1030-1032)acg>acCGTg	p.344_345insV	FAM90A1_ENST00000307435.6_In_Frame_Ins_p.344_345insV	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	344				T -> TV (in Ref. 1; BAA91593).			nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCTGGGGTGACGTACGTGGTCC	0.673		NA											False	0	True	12:8374781	0
TAS2R7	50837	broad.mit.edu	37	12	10954459	10954460	+	Frame_Shift_Ins	INS	-	-	TCTATTCTAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:10954459_10954460insTCTATTCTAA	ENST00000240687.2	-	1	766_767	c.710_711insTTAGAATAGA	c.(709-711)gtcfs	p.-237fs		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	NA					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						GGAAGGAAATGACAGCTTTCAG	0.5		NA											False	0	False	12:10954459	0
AQP6	363	broad.mit.edu	37	12	50369430	50369431	+	In_Frame_Ins	INS	-	-	CCACAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:50369430_50369431insCCACAG	ENST00000551733.1	+	6	801_802	c.303_304insCCACAG	c.(304-306)gcc>CCACAGgcc	p.101_102insPQ	AQP6_ENST00000315520.5_In_Frame_Ins_p.275_276insPQ			Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	275					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CGGGTTCGGGAGCCGTGGAGAT	0.683		NA											False	0	False	12:50369430	0
KRT82	3888	broad.mit.edu	37	12	52788940	52788941	+	Frame_Shift_Ins	INS	-	-	CTCCCTTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:52788940_52788941insCTCCCTTT	ENST00000257974.2	-	9	1437_1438	c.1360_1361insAAAGGGAG	c.(1360-1362)tgtfs	p.C454fs	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	454	Tail.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GCTGACCCCACATGGCTCGTAC	0.639		NA											False	0	False	12:52788940	0
SMARCC2	6601	broad.mit.edu	37	12	56572288	56572289	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:56572288_56572289insT	ENST00000394023.3	-	14	1314_1315	c.1209_1210insA	c.(1207-1212)aagggafs	p.G404fs	SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.G404fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.G404fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.G404fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	404					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTCTGCTCTCCCTTGTTCCCCG	0.525		NA											False	0	True	12:56572288	0
SMARCC2	6601	broad.mit.edu	37	12	56572289	56572290	+	In_Frame_Ins	INS	-	-	CAAATAAGTTAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:56572289_56572290insCAAATAAGTTAT	ENST00000394023.3	-	14	1313_1314	c.1208_1209insATAACTTATTTG	c.(1207-1209)aag>aaATAACTTATTTGg	p.403_404ins*LIW	SMARCC2_ENST00000550164.1_In_Frame_Ins_p.403_404ins*LIW|SMARCC2_ENST00000267064.4_In_Frame_Ins_p.403_404ins*LIW|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_In_Frame_Ins_p.403_404ins*LIW	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	403					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCTGCTCTCCCTTGTTCCCCGT	0.525		NA											False	0	True	12:56572289	0
SMARCC2	6601	broad.mit.edu	37	12	56574867	56574868	+	Frame_Shift_Ins	INS	-	-	AATTTAGCTGGTTATTGGAATTACG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:56574867_56574868insAATTTAGCTGGTTATTGGAATTACG	ENST00000394023.3	-	11	1079_1080	c.974_975insCGTAATTCCAATAACCAGCTAAATT	c.(973-975)actfs	p.-325fs	SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.-325fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.-325fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.-325fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	NA					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCTTTGACTTAGTGTAAGGTGT	0.51		NA											False	0	False	12:56574867	0
NDUFA4L2	56901	broad.mit.edu	37	12	57630863	57630864	+	Frame_Shift_Ins	INS	-	-	ATTCTTCCCCTAAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:57630863_57630864insATTCTTCCCCTAAG	ENST00000554503.1	-	1	257_258	c.5_6insCTTAGGGGAAGAAT	c.(4-6)gcafs	p.-2fs	NDUFA4L2_ENST00000556732.1_Frame_Shift_Ins_p.-2fs|NDUFA4L2_ENST00000393825.1_Frame_Shift_Ins_p.-2fs			Q9NRX3	NUA4L_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2	NA										lung(1)|prostate(1)	2					NADH(DB00157)	GACTGGCTCCTGCCATATCGTT	0.609		NA											False	0	False	12:57630863	0
IL22	50616	broad.mit.edu	37	12	68647271	68647272	+	Translation_Start_Site	INS	-	-	GTATACATCTC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:68647271_68647272insGTATACATCTC	ENST00000538666.1	-	0	27_28				IL22_ENST00000328087.4_De_novo_Start_OutOfFrame			Q9GZX6	IL22_HUMAN	interleukin 22	NA					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		TGGGGAAGGAGAACCTGGTCGA	0.47		NA											False	0	False	12:68647271	0
GIT2	9815	broad.mit.edu	37	12	110385123	110385124	+	Frame_Shift_Ins	INS	-	-	ACTAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:110385123_110385124insACTAA	ENST00000355312.3	-	15	1577_1578	c.1578_1579insTTAGT	c.(1576-1581)ctcccafs	p.P527fs	GIT2_ENST00000354574.4_Frame_Shift_Ins_p.P479fs|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000457474.2_Frame_Shift_Ins_p.P479fs|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000551209.1_Frame_Shift_Ins_p.P476fs|GIT2_ENST00000360185.4_Frame_Shift_Ins_p.P477fs|GIT2_ENST00000343646.5_Frame_Shift_Ins_p.P447fs|GIT2_ENST00000361006.5_Frame_Shift_Ins_p.P527fs	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	527					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TCTCCCATTGGGAGATATGGTT	0.569		NA											False	0	True	12:110385123	0
HCAR2	338442	broad.mit.edu	37	12	123187505	123187506	+	Frame_Shift_Ins	INS	-	-	AATT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:123187505_123187506insAATT	ENST00000328880.5	-	1	384_385	c.325_326insAATT	c.(325-327)atgfs	p.M109fs	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	109					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	CTGGCGGTTCATAGCCAACATG	0.564		NA											False	0	False	12:123187505	0
TMEM132B	114795	broad.mit.edu	37	12	126138392	126138393	+	In_Frame_Ins	INS	-	-	TCACTGAAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:126138392_126138393insTCACTGAAC	ENST00000299308.3	+	9	2381_2382	c.2373_2374insTCACTGAAC	c.(2374-2376)agt>TCACTGAACagt	p.792_792S>SLNS	TMEM132B_ENST00000535886.1_In_Frame_Ins_p.304_304S>SLNS	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	792						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AATTCGAACCAAGTAGTGATGA	0.426		NA											False	0	False	12:126138392	0
MIPEP	4285	broad.mit.edu	37	13	24444305	24444306	+	In_Frame_Ins	INS	-	-	CAGTGATAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr13:24444305_24444306insCAGTGATAA	ENST00000382172.3	-	6	730_731	c.632_633insTTATCACTG	c.(631-633)aaa>aaTTATCACTGa	p.211_211K>NYH*		NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	211					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AATCCAAGATTTTAACATTGAG	0.332		NA											False	0	True	13:24444305	0
KBTBD7	84078	broad.mit.edu	37	13	41767920	41767921	+	Frame_Shift_Ins	INS	-	-	GCAGAAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr13:41767920_41767921insGCAGAAG	ENST00000379483.3	-	1	781_782	c.473_474insCTTCTGC	c.(472-474)gaafs	p.E158fs		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	158							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AGGCACAGGCTTCCCGCACATA	0.574		NA											False	0	True	13:41767920	0
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs142857579		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661		NA											False	1	False	1:152671515	0
AQP10	89872	broad.mit.edu	37	1	154296269	154296270	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:154296269_154296270insAA	ENST00000484864.1	+	5	730_731	c.694_695insAA	c.(694-696)cctfs	p.P232fs	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Frame_Shift_Ins_p.P232fs			Q96PS8	AQP10_HUMAN	aquaporin 10	232					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGCTGGGGTCCTGAAGTCTTC	0.619		NA											False	0	False	1:154296269	0
TDRD3	81550	broad.mit.edu	37	13	61102576	61102578	+	In_Frame_Del	DEL	ATA	ATA	-	rs148917045		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	ATA	ATA	-	-	ATA	ATA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr13:61102576_61102578delATA	ENST00000196169.3	+	11	1726_1728	c.938_940delATA	c.(937-942)gataat>gat	p.N315del	TDRD3_ENST00000535286.1_In_Frame_Del_p.N408del|TDRD3_ENST00000377894.2_In_Frame_Del_p.N315del|TDRD3_ENST00000377881.2_In_Frame_Del_p.N315del	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	315					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GGAGTAAAAGATAATAATCATCT	0.384		NA											False	2	False	13:61102576	0
PYGL	5836	broad.mit.edu	37	14	51375640	51375641	+	Frame_Shift_Ins	INS	-	-	AAAACCAACAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:51375640_51375641insAAAACCAACAA	ENST00000216392.7	-	18	2542_2543	c.2210_2211insTTGTTGGTTTT	c.(2209-2211)ccafs	p.-737fs	PYGL_ENST00000532462.1_Frame_Shift_Ins_p.-737fs|PYGL_ENST00000544180.2_Frame_Shift_Ins_p.-703fs	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	NA					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GCTTCAGCTCTGGAAGTGCCTC	0.421		NA											False	0	False	14:51375640	0
ACTR10	55860	broad.mit.edu	37	14	58698916	58698917	+	In_Frame_Ins	INS	-	-	AAGGATTTATTCTGAACTGTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:58698916_58698917insAAGGATTTATTCTGAACTGTA	ENST00000254286.4	+	12	1083_1084	c.1003_1004insAAGGATTTATTCTGAACTGTA	c.(1003-1005)gca>gAAGGATTTATTCTGAACTGTAca	p.335_335A>EGFILNCT	ACTR10_ENST00000554402.1_3'UTR	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	335						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						ATATAAAAAAGCACTTGGCACT	0.361		NA											False	0	False	14:58698916	0
ACTR10	55860	broad.mit.edu	37	14	58698918	58698919	+	Frame_Shift_Ins	INS	-	-	AATAATG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:58698918_58698919insAATAATG	ENST00000254286.4	+	12	1085_1086	c.1005_1006insAATAATG	c.(1006-1008)cttfs	p.L336fs	ACTR10_ENST00000554402.1_3'UTR	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	336						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						ATAAAAAAGCACTTGGCACTAA	0.356		NA											False	0	False	14:58698918	0
KIAA0586	9786	broad.mit.edu	37	14	58934617	58934618	+	Frame_Shift_Ins	INS	-	-	GAAAAGTCTAATATACCATCTGGATCTTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:58934617_58934618insGAAAAGTCTAATATACCATCTGGATCTTA	ENST00000423743.3	+	17	2545_2546	c.2287_2288insGAAAAGTCTAATATACCATCTGGATCTTA	c.(2287-2289)gatfs	p.D763fs	KIAA0586_ENST00000556134.1_Frame_Shift_Ins_p.D792fs|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Frame_Shift_Ins_p.D731fs|KIAA0586_ENST00000354386.6_Frame_Shift_Ins_p.D860fs	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	731										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAAAAAAAGGATCCTCCTCAG	0.361		NA											False	0	False	14:58934617	0
DAAM1	23002	broad.mit.edu	37	14	59834291	59834292	+	Frame_Shift_Ins	INS	-	-	TCAATGTTTCATGAGAATTCCACAATCAAATATAAAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:59834291_59834292insTCAATGTTTCATGAGAATTCCACAATCAAATATAAAT	ENST00000395125.1	+	24	3024_3025	c.3001_3002insTCAATGTTTCATGAGAATTCCACAATCAAATATAAAT	c.(3001-3003)gaafs	p.E1001fs	DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Frame_Shift_Ins_p.E1001fs|DAAM1_ENST00000360909.3_Frame_Shift_Ins_p.E991fs	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1001	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GGAGGAAGAAGAACGTCGAGCT	0.411		NA											False	0	True	14:59834291	0
ZFYVE26	23503	broad.mit.edu	37	14	68251142	68251143	+	Frame_Shift_Ins	INS	-	-	TGAATTTTTTATTCTTATATAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:68251142_68251143insTGAATTTTTTATTCTTATATAA	ENST00000347230.4	-	20	3672_3673	c.3534_3535insTTATATAAGAATAAAAAATTCA	c.(3532-3537)gaggtcfs	p.V1179fs	ZFYVE26_ENST00000555452.1_Frame_Shift_Ins_p.V1179fs	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1179					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CCTACCTTGACCTCCACATGAT	0.47		NA											False	0	False	14:68251142	0
EML1	2009	broad.mit.edu	37	14	100363601	100363602	+	Frame_Shift_Ins	INS	-	-	ATAAAATACCATATAAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:100363601_100363602insATAAAATACCATATAAC	ENST00000262233.6	+	7	936_937	c.797_798insATAAAATACCATATAAC	c.(796-801)cattacfs	p.HY266fs	EML1_ENST00000334192.4_Frame_Shift_Ins_p.HY285fs|EML1_ENST00000327921.9_Frame_Shift_Ins_p.HY254fs	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	266						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CTGCAGAGGCATTACGCTGGCC	0.54		NA											False	0	False	14:100363601	0
EML1	2009	broad.mit.edu	37	14	100377875	100377876	+	In_Frame_Ins	INS	-	-	TCTAATCTCATCTGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:100377875_100377876insTCTAATCTCATCTGA	ENST00000262233.6	+	13	1595_1596	c.1456_1457insTCTAATCTCATCTGA	c.(1456-1458)tct>tTCTAATCTCATCTGAct	p.486_486S>F*SHLT	EML1_ENST00000334192.4_In_Frame_Ins_p.505_505S>F*SHLT|EML1_ENST00000327921.9_In_Frame_Ins_p.474_474S>F*SHLT	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	486						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AAAGCTCATTTCTTGGAGCGGA	0.416		NA											False	0	True	14:100377875	0
DYNC1H1	1778	broad.mit.edu	37	14	102476730	102476731	+	In_Frame_Ins	INS	-	-	CTATCTTTAATAACA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:102476730_102476731insCTATCTTTAATAACA	ENST00000360184.4	+	31	6503_6504	c.6339_6340insCTATCTTTAATAACA	c.(6340-6342)gag>CTATCTTTAATAACAgag	p.2113_2114insLSLIT		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2113					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGATAAAGAGGGAGAAAGAGGA	0.446		NA											False	0	True	14:102476730	0
DYNC1H1	1778	broad.mit.edu	37	14	102476731	102476732	+	In_Frame_Ins	INS	-	-	TATACTTTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:102476731_102476732insTATACTTTA	ENST00000360184.4	+	31	6504_6505	c.6340_6341insTATACTTTA	c.(6340-6342)gag>gTATACTTTAag	p.2114_2114E>VYFK		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2114					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GATAAAGAGGGAGAAAGAGGAA	0.446		NA											False	0	True	14:102476731	0
C14orf79	122616	broad.mit.edu	37	14	105455328	105455329	+	Translation_Start_Site	INS	-	-	TTGTGATAGAAATGAAATTTGTAATTGAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:105455328_105455329insTTGTGATAGAAATGAAATTTGTAATTGAT	ENST00000550614.1	+	0	28_29				C14orf79_ENST00000547315.1_Frame_Shift_Ins_p.T158fs|C14orf79_ENST00000549584.1_3'UTR			Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	NA										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			TCAAGAAATAACAGTCCAGCAG	0.376		NA											False	0	False	14:105455328	0
IGHV4-31	0	broad.mit.edu	37	14	106805242	106805263	+	RNA	DEL	AGTCACAGAGCTCAGCTTCAGG	AGTCACAGAGCTCAGCTTCAGG	-	rs61740532	by1000genomes	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	AGTCACAGAGCTCAGCTTCAGG	AGTCACAGAGCTCAGCTTCAGG	-	-	AGTCACAGAGCTCAGCTTCAGG	AGTCACAGAGCTCAGCTTCAGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:106805242_106805263delAGTCACAGAGCTCAGCTTCAGG	ENST00000438142.2	-	0	371_392										NA											NA						TGTCCGCGGCAGTCACAGAGCTCAGCTTCAGGGAGAACTGGT	0.559		NA											False	1	False	14:106805242	0
SNHG14	0	broad.mit.edu	37	15	25463971	25463972	+	RNA	INS	-	-	ATGCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr15:25463971_25463972insATGCA	ENST00000424208.1	+	0	2994				SNHG14_ENST00000453082.2_RNA	NR_003305.1					NA											NA						TGTCTCTGCACTCTAGTTTCCC	0.589		NA											False	0	False	15:25463971	0
RYR3	6263	broad.mit.edu	37	15	34130706	34130707	+	Frame_Shift_Ins	INS	-	-	GTGTCCTC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr15:34130706_34130707insGTGTCCTC	ENST00000389232.4	+	89	12595_12596	c.12525_12526insGTGTCCTC	c.(12526-12528)actfs	p.T4176fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.T4171fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4176					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAAAAAGATGACTGCGAAGGA	0.5		NA											False	0	False	15:34130706	0
BLOC1S6	26258	broad.mit.edu	37	15	45897711	45897712	+	Splice_Site	INS	-	-	AT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr15:45897711_45897712insAT	ENST00000568816.1	+	5	696_697	c.107_108insAT	c.(106-111)aaaaaa>aaATaaaa	p.K37fs	BLOC1S6_ENST00000220531.3_Splice_Site_p.K134fs|RP11-96O20.4_ENST00000564080.1_Intron|BLOC1S6_ENST00000564765.1_Intron|BLOC1S6_ENST00000565409.1_Splice_Site_p.K37fs|BLOC1S6_ENST00000567740.1_3'UTR|BLOC1S6_ENST00000565216.1_Splice_Site_p.K93fs|BLOC1S6_ENST00000562384.1_Splice_Site_p.K37fs|BLOC1S6_ENST00000567461.1_Splice_Site_p.K37fs|BLOC1S6_ENST00000565323.1_Splice_Site_p.K139fs					biogenesis of lysosomal organelles complex-1, subunit 6, pallidin	NA											NA						TCAAAGTTAAAAGTGAGTTGAA	0.282		NA											False	0	True	15:45897711	0
BLOC1S6	26258	broad.mit.edu	37	15	45897713	45897714	+	Splice_Site	INS	-	-	ACTAAAATATCAAAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr15:45897713_45897714insACTAAAATATCAAAA	ENST00000568816.1	+	5	697		c.e5+1		BLOC1S6_ENST00000220531.3_Splice_Site|RP11-96O20.4_ENST00000564080.1_Intron|BLOC1S6_ENST00000564765.1_Intron|BLOC1S6_ENST00000565409.1_Splice_Site|BLOC1S6_ENST00000567740.1_Splice_Site|BLOC1S6_ENST00000565216.1_Splice_Site|BLOC1S6_ENST00000562384.1_Splice_Site|BLOC1S6_ENST00000567461.1_Splice_Site|BLOC1S6_ENST00000565323.1_Splice_Site					biogenesis of lysosomal organelles complex-1, subunit 6, pallidin	NA											NA						AAAGTTAAAAGTGAGTTGAAAA	0.287		NA											False	0	False	15:45897713	0
HERC1	8925	broad.mit.edu	37	15	64021813	64021814	+	Frame_Shift_Ins	INS	-	-	GGAACTTTTTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr15:64021813_64021814insGGAACTTTTTT	ENST00000443617.2	-	15	2990_2991	c.2903_2904insAAAAAAGTTCC	c.(2902-2904)gatfs	p.D968fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	968					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTAGAAATTTATCACTATTCTT	0.366		NA											False	0	False	15:64021813	0
CELF6	60677	broad.mit.edu	37	15	72580718	72580719	+	In_Frame_Ins	INS	-	-	TGATTTCCTGAGATT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr15:72580718_72580719insTGATTTCCTGAGATT	ENST00000543764.2	-	9	1011_1012	c.837_838insAATCTCAGGAAATCA	c.(835-840)ttcctg>ttcAATCTCAGGAAATCActg	p.279_280FL>FNLRKSL	RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000539635.1_In_Frame_Ins_p.277_278FL>FNLRKSL|CELF6_ENST00000567083.1_In_Frame_Ins_p.389_390FL>FNLRKSL|CELF6_ENST00000395258.2_In_Frame_Ins_p.303_304FL>FNLRKSL|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000287202.5_In_Frame_Ins_p.416_417FL>FNLRKSL	NM_001172685.1	NP_001166156.1	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	416	Ala-rich.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CCAAAGGGCAGGAATGTCTGTA	0.53		NA											False	0	False	15:72580718	0
HMOX2	3163	broad.mit.edu	37	16	4559693	4559698	+	In_Frame_Del	DEL	TCCAGT	TCCAGT	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	TCCAGT	TCCAGT	-	-	TCCAGT	TCCAGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:4559693_4559698delTCCAGT	ENST00000570646.1	+	6	1492_1497	c.887_892delTCCAGT	c.(886-894)ctccagttc>ctc	p.QF297del	HMOX2_ENST00000458134.3_In_Frame_Del_p.QF297del|HMOX2_ENST00000414777.1_In_Frame_Del_p.QF297del|HMOX2_ENST00000406590.2_In_Frame_Del_p.QF297del|HMOX2_ENST00000575120.1_In_Frame_Del_p.QF268del|HMOX2_ENST00000398595.3_In_Frame_Del_p.QF297del|HMOX2_ENST00000219700.6_In_Frame_Del_p.QF297del	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	297					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	AAGCCCAGCCTCCAGTTCATCCTGGC	0.607		NA											False	1	False	16:4559693	0
USP7	7874	broad.mit.edu	37	16	9015098	9015099	+	Frame_Shift_Ins	INS	-	-	AGTCCTTTAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:9015098_9015099insAGTCCTTTAT	ENST00000344836.4	-	4	635_636	c.437_438insATAAAGGACT	c.(436-438)gatfs	p.D146fs	USP7_ENST00000381886.4_Frame_Shift_Ins_p.D130fs|USP7_ENST00000535863.1_Frame_Shift_Ins_p.D47fs	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	146	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACGACTTTTCATCATCTCTGTA	0.356		NA											False	0	False	16:9015098	0
DEXI	28955	broad.mit.edu	37	16	11035750	11035751	+	In_Frame_Ins	INS	-	-	ACC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:11035750_11035751insACC	ENST00000331808.4	-	1	566_567	c.112_113insGGT	c.(112-114)gtg>gGGTtg	p.38_38V>GL	RP11-876N24.4_ENST00000573379.1_RNA|DEXI_ENST00000469379.1_5'UTR	NM_014015.3	NP_054734.2	O95424	DEXI_HUMAN	Dexi homolog (mouse)	38										endometrium(2)|lung(1)	3						CAGGATCAGCACATTGACGAAG	0.653		NA											False	0	False	16:11035750	0
UAP1	6675	broad.mit.edu	37	1	162551155	162551156	+	Frame_Shift_Ins	INS	-	-	ATCAAAATCCATCATAAAGGTAACACAAAGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:162551155_162551156insATCAAAATCCATCATAAAGGTAACACAAAGA	ENST00000367926.4	+	5	1042_1043	c.740_741insATCAAAATCCATCATAAAGGTAACACAAAGA	c.(739-744)attcatfs	p.H248fs	UAP1_ENST00000367925.1_Frame_Shift_Ins_p.H248fs|UAP1_ENST00000271469.3_Frame_Shift_Ins_p.H248fs|UAP1_ENST00000367924.1_Frame_Shift_Ins_p.H248fs	NM_003115.4	NP_003106.3	Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	248					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ATTTGGAGCATTCATGTCTATT	0.436		NA											False	0	False	1:162551155	0
DDR2	4921	broad.mit.edu	37	1	162749980	162749981	+	Frame_Shift_Ins	INS	-	-	CGGGGGAAAGGGAAGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:162749980_162749981insCGGGGGAAAGGGAAGT	ENST00000367922.2	+	19	2950_2951	c.2512_2513insCGGGGGAAAGGGAAGT	c.(2512-2514)aacfs	p.N838fs	DDR2_ENST00000367921.3_Frame_Shift_Ins_p.N838fs	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	838	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			AGATACGAAGAACCGTCCCTCA	0.5		NA											False	0	False	1:162749980	0
DCAF6	55827	broad.mit.edu	37	1	167944217	167944218	+	In_Frame_Ins	INS	-	-	AGAAAGCAGTTAATGGTAACTTAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:167944217_167944218insAGAAAGCAGTTAATGGTAACTTAT	ENST00000367840.3	+	4	496_497	c.402_403insAGAAAGCAGTTAATGGTAACTTAT	c.(403-405)tgc>AGAAAGCAGTTAATGGTAACTTATtgc	p.134_135insRKQLMVTY	DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000312263.6_In_Frame_Ins_p.134_135insRKQLMVTY|DCAF6_ENST00000432587.2_In_Frame_Ins_p.103_104insRKQLMVTY|DCAF6_ENST00000367843.3_In_Frame_Ins_p.134_135insRKQLMVTY	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	134					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CCAACAGACAATGCCAATTTAC	0.307		NA											False	0	False	1:167944217	0
ATP1B1	481	broad.mit.edu	37	1	169096638	169096639	+	In_Frame_Ins	INS	-	-	CTGGGC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:169096638_169096639insCTGGGC	ENST00000367816.1	+	5	1088_1089	c.559_560insCTGGGC	c.(559-561)aaa>aCTGGGCaa	p.187_187K>TGQ	ATP1B1_ENST00000499679.3_In_Frame_Ins_p.131_131K>TGQ|ATP1B1_ENST00000367815.3_In_Frame_Ins_p.187_187K>TGQ|ATP1B1_ENST00000367813.3_In_Frame_Ins_p.179_179K>TGQ			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	187					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					TCTAGGCTTCAAACCTAAGGCA	0.332		NA											False	0	True	1:169096638	0
BLZF1	8548	broad.mit.edu	37	1	169351345	169351346	+	Frame_Shift_Ins	INS	-	-	AATGTAAAAATTAATAATAGTAAATAGGTAAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:169351345_169351346insAATGTAAAAATTAATAATAGTAAATAGGTAAT	ENST00000367808.3	+	6	1266_1267	c.843_844insAATGTAAAAATTAATAATAGTAAATAGGTAAT	c.(844-846)actfs	p.T282fs	BLZF1_ENST00000329281.2_Frame_Shift_Ins_p.T282fs			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	282					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GAAGAGAGCAAACTTACTCCCC	0.416		NA											False	0	True	1:169351345	0
BLZF1	8548	broad.mit.edu	37	1	169351347	169351348	+	In_Frame_Ins	INS	-	-	AAATAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:169351347_169351348insAAATAT	ENST00000367808.3	+	6	1268_1269	c.845_846insAAATAT	c.(844-849)acttac>acAAATATttac	p.282_283TY>TNIY	BLZF1_ENST00000329281.2_In_Frame_Ins_p.282_283TY>TNIY			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	282					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					AGAGAGCAAACTTACTCCCCTA	0.421		NA											False	0	False	1:169351347	0
F5	2153	broad.mit.edu	37	1	169510790	169510791	+	In_Frame_Ins	INS	-	-	AGCCATACA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:169510790_169510791insAGCCATACA	ENST00000367796.3	-	13	3753_3754	c.3552_3553insTGTATGGCT	c.(3550-3555)catgaa>catTGTATGGCTgaa	p.1184_1185HE>HCMAE	F5_ENST00000367797.3_In_Frame_Ins_p.1179_1180HE>HCMAE			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1179	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGCCAGACTTCATGTTCTGAGG	0.51		NA											False	0	False	1:169510790	0
PIGC	5279	broad.mit.edu	37	1	172411015	172411016	+	Frame_Shift_Ins	INS	-	-	TAACTAGTATAGAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:172411015_172411016insTAACTAGTATAGAA	ENST00000367728.1	-	1	2210_2211	c.747_748insTTCTATACTAGTTA	c.(745-750)gtgggafs	p.G250fs	C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000344529.4_Frame_Shift_Ins_p.G250fs|PIGC_ENST00000258324.1_Frame_Shift_Ins_p.G250fs			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	250					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						AGTACGGCTCCCACAGCACTAA	0.485		NA											False	0	True	1:172411015	0
KLHL20	27252	broad.mit.edu	37	1	173726276	173726277	+	In_Frame_Ins	INS	-	-	ATC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:173726276_173726277insATC	ENST00000209884.4	+	7	1265_1266	c.1129_1130insATC	c.(1129-1131)tct>tATCct	p.377_377S>YP	KLHL20_ENST00000546011.1_In_Frame_Ins_p.188_188S>YP	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	377					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TGATGGATCCTCTTATCTCAAT	0.371		NA											False	0	False	1:173726276	0
KLHL20	27252	broad.mit.edu	37	1	173726278	173726279	+	In_Frame_Ins	INS	-	-	GAAGCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:173726278_173726279insGAAGCA	ENST00000209884.4	+	7	1267_1268	c.1131_1132insGAAGCA	c.(1132-1134)tat>GAAGCAtat	p.377_378insEA	KLHL20_ENST00000546011.1_In_Frame_Ins_p.188_189insEA	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	377					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ATGGATCCTCTTATCTCAATAG	0.366		NA											False	0	False	1:173726278	0
KIF22	3835	broad.mit.edu	37	16	29811016	29811036	+	In_Frame_Del	DEL	TAGACACAGTCTCCGCACTCA	TAGACACAGTCTCCGCACTCA	-	rs142042059	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	TAGACACAGTCTCCGCACTCA	TAGACACAGTCTCCGCACTCA	-	-	TAGACACAGTCTCCGCACTCA	TAGACACAGTCTCCGCACTCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:29811016_29811036delTAGACACAGTCTCCGCACTCA	ENST00000400751.5	+	7	1479_1499	c.854_874delTAGACACAGTCTCCGCACTCA	c.(853-876)ctagacacagtctccgcactcaac>cac	p.285_292LDTVSALN>H	KIF22_ENST00000561482.1_In_Frame_Del_p.285_292LDTVSALN>H|KIF22_ENST00000160827.4_In_Frame_Del_p.353_360LDTVSALN>H|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000569382.2_In_Frame_Del_p.285_292LDTVSALN>H			Q14807	KIF22_HUMAN	kinesin family member 22	353	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CGCTTCTACCTAGACACAGTCTCCGCACTCAACTTTGCTGC	0.566		NA											False	1	False	16:29811016	0
ITGAM	3684	broad.mit.edu	37	16	31332934	31332935	+	Frame_Shift_Ins	INS	-	-	CCTTCAAACAGGAAACATTCCT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:31332934_31332935insCCTTCAAACAGGAAACATTCCT	ENST00000544665.3	+	16	2062_2063	c.1991_1992insCCTTCAAACAGGAAACATTCCT	c.(1990-1995)gatcggfs	p.R665fs	ITGAM_ENST00000287497.8_Frame_Shift_Ins_p.R664fs	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	664					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGCACACGGGATCGGCTAAGAG	0.53		NA											False	0	False	16:31332934	0
CHD9	80205	broad.mit.edu	37	16	53342763	53342764	+	Frame_Shift_Ins	INS	-	-	TAAGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:53342763_53342764insTAAGA	ENST00000566029.1	+	34	7380_7381	c.7171_7172insTAAGA	c.(7171-7173)tcafs	p.S2391fs	CHD9_ENST00000398510.3_Frame_Shift_Ins_p.S2407fs|CHD9_ENST00000564845.1_Frame_Shift_Ins_p.S2391fs|CHD9_ENST00000447540.1_Frame_Shift_Ins_p.S2392fs			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2407	Binds A/T-rich DNA.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CATACCAGTATCAGGTGAATAT	0.386		NA											False	0	False	16:53342763	0
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635		NA											False	1	False	16:72991713	0
CAMTA2	23125	broad.mit.edu	37	17	4875750	4875751	+	Frame_Shift_Ins	INS	-	-	TTATATT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:4875750_4875751insTTATATT	ENST00000572543.1	-	16	2711_2712	c.2599_2600insAATATAA	c.(2599-2601)ggcfs	p.G867fs	CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.G885fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.G862fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.G864fs|CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.G861fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.G862fs			O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	862					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGGGGGACTGCCATCTGGGGCA	0.624		NA											False	0	False	17:4875750	0
RANGRF	29098	broad.mit.edu	37	17	8192764	8192769	+	In_Frame_Del	DEL	AGGGCG	AGGGCG	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	AGGGCG	AGGGCG	-	-	AGGGCG	AGGGCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:8192764_8192769delAGGGCG	ENST00000439238.3	+	3	494_499	c.383_388delAGGGCG	c.(382-390)aagggcggt>agt	p.128_130KGG>S	SLC25A35_ENST00000580340.1_Intron|RANGRF_ENST00000407006.4_Intron|SLC25A35_ENST00000579192.1_Intron|RANGRF_ENST00000226105.6_Intron|RANGRF_ENST00000580434.1_Intron|SLC25A35_ENST00000396278.1_Intron|SLC25A35_ENST00000380067.2_3'UTR			Q9HD47	MOG1_HUMAN	RAN guanine nucleotide release factor	0					protein transport	cytoplasm|nucleus	guanyl-nucleotide exchange factor activity			endometrium(1)	1						ATGTCCTGGAAGGGCGGTAGCGGGGA	0.583		NA											False	1	True	17:8192764	0
NPHS2	7827	broad.mit.edu	37	1	179533907	179533908	+	Frame_Shift_Ins	INS	-	-	ATTCTCACTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:179533907_179533908insATTCTCACTT	ENST00000367615.4	-	2	363_364	c.295_296insAAGTGAGAAT	c.(295-297)gggfs	p.G99fs	NPHS2_ENST00000367616.4_Frame_Shift_Ins_p.G99fs	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	99					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CTCACAGGCCCCTAAGCCGGAG	0.406		NA											False	0	True	1:179533907	0
FAM129A	116496	broad.mit.edu	37	1	184777276	184777277	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:184777276_184777277insCC	ENST00000367511.3	-	10	1459_1460	c.1266_1267insGG	c.(1264-1269)gatctcfs	p.L423fs	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	423					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CGGCTCTTGAGATCCTGCAGGC	0.52		NA											False	0	False	1:184777276	0
NSRP1	84081	broad.mit.edu	37	17	28512494	28512495	+	Frame_Shift_Ins	INS	-	-	TTTATCATTATTTTCATATCTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:28512494_28512495insTTTATCATTATTTTCATATCTT	ENST00000247026.5	+	7	1542_1543	c.1479_1480insTTTATCATTATTTTCATATCTT	c.(1480-1482)tcafs	p.S494fs	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	494					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						CTAATTCTGAATCATCACTGGG	0.431		NA											False	0	False	17:28512494	0
ATAD5	79915	broad.mit.edu	37	17	29195431	29195432	+	Splice_Site	INS	-	-	CTTTCTTGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:29195431_29195432insCTTTCTTGT	ENST00000321990.4	+	12	3691		c.e12+1			NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	NA					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAACATGAAGGTATTTTGTGTG	0.277		NA											False	0	False	17:29195431	0
DDX52	11056	broad.mit.edu	37	17	36002238	36002239	+	Frame_Shift_Ins	INS	-	-	ATTTCTGTCATGTTTTTTCTCTTTAATTTTTTTCAGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:36002238_36002239insATTTCTGTCATGTTTTTTCTCTTTAATTTTTTTCAGT	ENST00000349699.2	-	2	229_230	c.186_187insACTGAAAAAAATTAAAGAGAAAAAACATGACAGAAAT	c.(184-189)tcacaafs	p.Q63fs	DDX52_ENST00000394367.3_De_novo_Start_InFrame	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	63						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TGATGTGTTTGTGATGCTCCAC	0.436		NA											False	0	False	17:36002238	0
TOP2A	7153	broad.mit.edu	37	17	38560479	38560480	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:38560479_38560480insT	ENST00000423485.1	-	19	2365_2366	c.2207_2208insA	c.(2206-2208)cggfs	p.R736fs		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	736					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	p.R736L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GCTTGTCATTCCGTTTGAAGCA	0.376		NA											False	0	False	17:38560479	0
TOP2A	7153	broad.mit.edu	37	17	38560480	38560481	+	In_Frame_Ins	INS	-	-	AAAACAGATTTGGTGAAAGTATAAGCTCATATATTCATA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:38560480_38560481insAAAACAGATTTGGTGAAAGTATAAGCTCATATATTCATA	ENST00000423485.1	-	19	2364_2365	c.2206_2207insTATGAATATATGAGCTTATACTTTCACCAAATCTGTTTT	c.(2206-2208)cgg>cTATGAATATATGAGCTTATACTTTCACCAAATCTGTTTTgg	p.736_736R>L*IYELILSPNLFW		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	736					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	p.R736L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CTTGTCATTCCGTTTGAAGCAA	0.371		NA											False	0	True	17:38560480	0
SLC4A1	6521	broad.mit.edu	37	17	42335957	42335958	+	Frame_Shift_Ins	INS	-	-	TCAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:42335957_42335958insTCAT	ENST00000262418.6	-	10	1065_1066	c.910_911insATGA	c.(910-912)cgafs	p.R304fs	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	304					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGCTCCCCTCGGCTCTGAGCC	0.649		NA											False	0	False	17:42335957	0
TEX14	56155	broad.mit.edu	37	17	56694979	56694980	+	Splice_Site	INS	-	-	G			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:56694979_56694980insG	ENST00000389934.3	-	6	672_673	c.555_556insC	c.(553-558)ggaaac>ggaCaac	p.N186fs	TEX14_ENST00000240361.8_Splice_Site_p.N186fs|TEX14_ENST00000349033.5_Splice_Site_p.N186fs	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	186						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCATTAGGGTTTCTAGAAATAT	0.381		NA											False	0	True	17:56694979	0
TEX14	56155	broad.mit.edu	37	17	56694980	56694981	+	Splice_Site	INS	-	-	TCTTTTCTTTTTTGCCC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:56694980_56694981insTCTTTTCTTTTTTGCCC	ENST00000389934.3	-	6	672	c.555_555insGGGCAAAAAAGAAAAGA	c.(553-555)gga>ggGGGCAAAAAAGAAAAGAa	p.-185fs	TEX14_ENST00000240361.8_Splice_Site_p.-185fs|TEX14_ENST00000349033.5_Splice_Site_p.-185fs	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	NA						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CATTAGGGTTTCTAGAAATATT	0.381		NA											False	0	True	17:56694980	0
DDX42	11325	broad.mit.edu	37	17	61885261	61885262	+	Splice_Site	INS	-	-	CACACCC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:61885261_61885262insCACACCC	ENST00000578681.1	+	10	1624		c.e10+1		DDX42_ENST00000389924.2_Splice_Site|DDX42_ENST00000583590.1_Splice_Site|DDX42_ENST00000359353.5_Splice_Site|DDX42_ENST00000457800.2_Splice_Site	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	NA					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTGCCAGCAGGTATGTGCTTTC	0.45		NA											False	0	False	17:61885261	0
LRRC37A16P	0	broad.mit.edu	37	17	66126509	66126510	+	RNA	INS	-	-	ATTATTTTAAGTATTTGTTTTTAAATTTATT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:66126509_66126510insATTATTTTAAGTATTTGTTTTTAAATTTATT	ENST00000590019.1	-	0	298										NA											NA						AAAGCAGTTACTTGAGTAGGCA	0.47		NA											False	0	False	17:66126509	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74625193	74625194	+	Frame_Shift_Ins	INS	-	-	TAGACTTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:74625193_74625194insTAGACTTT	ENST00000156626.7	-	2	930_931	c.731_732insAAAGTCTA	c.(730-732)acgfs	p.-244fs	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	NA					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TTCTCTGCGTCGTGGGGCTCTG	0.54		NA											False	0	False	17:74625193	0
SLC38A10	124565	broad.mit.edu	37	17	79219501	79219503	+	In_Frame_Del	DEL	ATG	ATG	-	rs10569617		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	ATG	ATG	-	-	ATG	ATG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:79219501_79219503delATG	ENST00000374759.3	-	16	3596_3598	c.3213_3215delCAT	c.(3211-3216)atcatt>att	p.1071_1072II>I		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	1071				Missing (in Ref. 5; AAG17235).	amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTTAAGGCCAATGATGACCCCAT	0.685		NA											False	2	False	17:79219501	0
MOCOS	55034	broad.mit.edu	37	18	33800182	33800183	+	Splice_Site	INS	-	-	AGAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr18:33800182_33800183insAGAC	ENST00000261326.5	+	9	1981		c.e9+2			NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	NA					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	AAGCCAAAGGTGGGAAAACTGC	0.475		NA											False	0	True	18:33800182	0
C18orf25	147339	broad.mit.edu	37	18	43820137	43820138	+	Frame_Shift_Ins	INS	-	-	GAAAGAAAATGTATACTTGTAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr18:43820137_43820138insGAAAGAAAATGTATACTTGTAT	ENST00000282059.6	+	3	1256_1257	c.882_883insGAAAGAAAATGTATACTTGTAT	c.(883-885)ctgfs	p.L295fs	C18orf25_ENST00000321319.6_Intron	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	295										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TTCTAGAGGAGCTGAATGCAGA	0.53		NA											False	0	False	18:43820137	0
ALPK2	115701	broad.mit.edu	37	18	56274671	56274672	+	Splice_Site	DEL	CC	CC	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr18:56274671_56274672delCC	ENST00000361673.3	-	3	323	c.110delGG	c.(109-111)ggg>gg	p.G37fs		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	37	Ig-like 1.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTGGGCTGACCTGACAATAAA	0.351		NA											False	2	True	18:56274671	0
MALT1	10892	broad.mit.edu	37	18	56377299	56377300	+	Frame_Shift_Ins	INS	-	-	TTTGTGTTTTAAAAATACG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr18:56377299_56377300insTTTGTGTTTTAAAAATACG	ENST00000348428.3	+	6	1178_1179	c.920_921insTTTGTGTTTTAAAAATACG	c.(919-924)atcatafs	p.I308fs	MALT1_ENST00000345724.3_Frame_Shift_Ins_p.I308fs|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	308					activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GTAGAAATCATCATAGGTAAGA	0.347		NA	T	BIRC3	MALT								False	0	False	18:56377299	0
REXO1	57455	broad.mit.edu	37	19	1825928	1825930	+	In_Frame_Del	DEL	CTC	CTC	-	rs3217458		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:1825928_1825930delCTC	ENST00000170168.4	-	3	2018_2020	c.1924_1926delGAG	c.(1924-1926)gagdel	p.E642del		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	642						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCACTCTTCTCTTCCTTGGGG	0.606		NA											False	1	True	19:1825928	0
ZNF556	80032	broad.mit.edu	37	19	2876193	2876194	+	Frame_Shift_Ins	INS	-	-	GTAATTCAGGTGTTTAATTGTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:2876193_2876194insGTAATTCAGGTGTTTAATTGTT	ENST00000586426.1	+	3	320_321	c.233_234insGTAATTCAGGTGTTTAATTGTT	c.(232-237)aatatafs	p.NI78fs	ZNF556_ENST00000307635.2_Frame_Shift_Ins_p.NI78fs			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAAGAAAGAATATATGGGCCT	0.386		NA											False	0	True	19:2876193	0
UBXN6	80700	broad.mit.edu	37	19	4452392	4452393	+	Frame_Shift_Ins	INS	-	-	AACTA	rs143712546		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:4452392_4452393insAACTA	ENST00000301281.6	-	4	533_534	c.409_410insTAGTT	c.(409-411)cggfs	p.R137fs	UBXN6_ENST00000394765.3_Frame_Shift_Ins_p.R84fs	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	137						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GCAGGCGTCCCGCTGGTCCTTC	0.629		NA											False	0	True	19:4452392	0
UBXN6	80700	broad.mit.edu	37	19	4452393	4452394	+	Frame_Shift_Ins	INS	-	-	GTGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:4452393_4452394insGTGT	ENST00000301281.6	-	4	532_533	c.408_409insACAC	c.(406-411)cagcggfs	p.R137fs	UBXN6_ENST00000394765.3_Frame_Shift_Ins_p.R84fs	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	137						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CAGGCGTCCCGCTGGTCCTTCC	0.634		NA											False	0	False	19:4452393	0
CLEC4M	10332	broad.mit.edu	37	19	7833825	7833826	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:7833825_7833826insTG	ENST00000327325.5	+	7	1269_1270	c.1151_1152insTG	c.(1150-1155)gacaatfs	p.N385fs	CLEC4M_ENST00000359059.5_Frame_Shift_Ins_p.N318fs|CLEC4M_ENST00000357361.2_3'UTR|CLEC4M_ENST00000248228.4_Frame_Shift_Ins_p.N363fs|CLEC4M_ENST00000595496.1_Frame_Shift_Ins_p.N249fs|CLEC4M_ENST00000334806.5_Frame_Shift_Ins_p.N334fs|CLEC4M_ENST00000597522.1_3'UTR|CLEC4M_ENST00000596363.1_3'UTR|CLEC4M_ENST00000394122.2_Frame_Shift_Ins_p.N373fs|CLEC4M_ENST00000596707.1_Frame_Shift_Ins_p.N318fs	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	385	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TGTGACGTTGACAATTACTGGA	0.5		NA											False	0	False	19:7833825	0
CLEC4M	10332	broad.mit.edu	37	19	7833826	7833827	+	In_Frame_Ins	INS	-	-	TTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:7833826_7833827insTTT	ENST00000327325.5	+	7	1270_1271	c.1152_1153insTTT	c.(1153-1155)aat>TTTaat	p.384_385insF	CLEC4M_ENST00000359059.5_In_Frame_Ins_p.317_318insF|CLEC4M_ENST00000357361.2_3'UTR|CLEC4M_ENST00000248228.4_In_Frame_Ins_p.362_363insF|CLEC4M_ENST00000595496.1_In_Frame_Ins_p.248_249insF|CLEC4M_ENST00000334806.5_In_Frame_Ins_p.333_334insF|CLEC4M_ENST00000597522.1_3'UTR|CLEC4M_ENST00000596363.1_3'UTR|CLEC4M_ENST00000394122.2_In_Frame_Ins_p.372_373insF|CLEC4M_ENST00000596707.1_In_Frame_Ins_p.317_318insF	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	384	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GTGACGTTGACAATTACTGGAT	0.505		NA											False	0	False	19:7833826	0
MUC16	94025	broad.mit.edu	37	19	9091031	9091032	+	Frame_Shift_Ins	INS	-	-	CTTTTTCCATGACACT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:9091031_9091032insCTTTTTCCATGACACT	ENST00000397910.4	-	1	986_987	c.783_784insAGTGTCATGGAAAAAG	c.(781-786)actggafs	p.TG261fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	261	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGGATATCCAGTGGTTGATA	0.45		NA											False	0	False	19:9091031	0
DHPS	1725	broad.mit.edu	37	19	12791111	12791112	+	Frame_Shift_Ins	INS	-	-	TTAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:12791111_12791112insTTAA	ENST00000210060.7	-	2	370_371	c.235_236insTTAA	c.(235-237)cagfs	p.Q79fs	DHPS_ENST00000351660.5_Frame_Shift_Ins_p.Q79fs|DHPS_ENST00000599481.1_5'UTR|DHPS_ENST00000594424.1_Frame_Shift_Ins_p.Q37fs	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	79					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	GTCTTCATCCTGTGACAGTGGT	0.545		NA											False	0	False	19:12791111	0
RFX1	5989	broad.mit.edu	37	19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71		NA											False	1	False	19:14083667	0
MUC16	94025	broad.mit.edu	37	19	9060883	9060884	+	Frame_Shift_Ins	INS	-	-	GACAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:9060883_9060884insGACAG	ENST00000397910.4	-	3	26765_26766	c.26562_26563insCTGTC	c.(26560-26565)tcttccfs	p.SS8854fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8856	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACACCAGGGAAGATGGAGGGC	0.515		NA											False	0	False	19:9060883	0
GSK3A	2931	broad.mit.edu	37	19	42741064	42741065	+	Frame_Shift_Ins	INS	-	-	CTGCAGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:42741064_42741065insCTGCAGA	ENST00000398249.4	-	2	1967_1968	c.254_255insTCTGCAG	c.(253-255)ctgfs	p.-85fs	AC006486.9_ENST00000594664.1_Frame_Shift_Ins_p.-80fs|GSK3A_ENST00000222330.3_Frame_Shift_Ins_p.-167fs			P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	NA					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				TGCAGTGGTCCAGCTTACGCAT	0.525		NA											False	0	False	19:42741064	0
PPP1R15A	23645	broad.mit.edu	37	19	49377834	49377835	+	Frame_Shift_Ins	INS	-	-	TCCTCTCCTGGCT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:49377834_49377835insTCCTCTCCTGGCT	ENST00000200453.5	+	2	1613_1614	c.1344_1345insTCCTCTCCTGGCT	c.(1345-1347)gatfs	p.D449fs		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	449	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		ATGAGGATGTGGATAGTGAGGA	0.569		NA											False	0	False	19:49377834	0
SYT14	255928	broad.mit.edu	37	1	210187063	210187064	+	Frame_Shift_Ins	INS	-	-	GAAACCCCAAACATTAAGTTAGCTTACTACC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:210187063_210187064insGAAACCCCAAACATTAAGTTAGCTTACTACC	ENST00000367015.1	+	3	339_340	c.33_34insGAAACCCCAAACATTAAGTTAGCTTACTACC	c.(34-36)ttcfs	p.F12fs	SYT14_ENST00000537238.1_Frame_Shift_Ins_p.F12fs|SYT14_ENST00000422431.1_Frame_Shift_Ins_p.F95fs|SYT14_ENST00000399639.2_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000472886.1_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000534859.1_Frame_Shift_Ins_p.F50fs			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	50						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TTAATAAGAAGTTCTGTTTTGA	0.351		NA											False	0	False	1:210187063	0
HHAT	55733	broad.mit.edu	37	1	210761421	210761422	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:210761421_210761422insA	ENST00000367010.1	+	10	1450_1451	c.1223_1224insA	c.(1222-1227)actcccfs	p.P409fs	HHAT_ENST00000541565.1_Frame_Shift_Ins_p.P272fs|HHAT_ENST00000537898.1_Frame_Shift_Ins_p.P344fs|HHAT_ENST00000367009.1_Frame_Shift_Ins_p.P99fs|HHAT_ENST00000261458.3_Frame_Shift_Ins_p.P409fs|HHAT_ENST00000391905.3_Frame_Shift_Ins_p.P409fs|HHAT_ENST00000308852.6_Frame_Shift_Ins_p.P364fs|HHAT_ENST00000545154.1_Frame_Shift_Ins_p.P410fs|HHAT_ENST00000545781.1_Frame_Shift_Ins_p.P346fs|HHAT_ENST00000413764.2_Frame_Shift_Ins_p.P409fs	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	409					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CTGGTGGAGACTCCCTGCATCC	0.579		NA											False	0	True	1:210761421	0
ZNF530	348327	broad.mit.edu	37	19	58118210	58118211	+	Frame_Shift_Ins	INS	-	-	CTCTCCAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:58118210_58118211insCTCTCCAG	ENST00000332854.6	+	3	1537_1538	c.1317_1318insCTCTCCAG	c.(1318-1320)tgtfs	p.C440fs	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGTGCAGTGAATGTGGGAAAGT	0.421		NA											False	0	False	19:58118210	0
ZNF586	54807	broad.mit.edu	37	19	58301755	58301756	+	Frame_Shift_Ins	INS	-	-	CCCCAAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:58301755_58301756insCCCCAAC	ENST00000598183.1	+	2	326_327	c.150_151insCCCCAAC	c.(151-153)atafs	p.I51fs	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Frame_Shift_Ins_p.I51fs			Q9NXT0	ZN586_HUMAN	zinc finger protein 586	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTTGACACTTATATCCTCCCT	0.465		NA											False	0	False	19:58301755	0
TMC2	117532	broad.mit.edu	37	20	2577908	2577909	+	Frame_Shift_Ins	INS	-	-	TTGAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:2577908_2577909insTTGAG	ENST00000358864.1	+	10	1203_1204	c.1188_1189insTTGAG	c.(1189-1191)gatfs	p.D397fs		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	397						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAGAGACAGCTGATAACAAATA	0.505		NA											False	0	False	20:2577908	0
DHX35	60625	broad.mit.edu	37	20	37632518	37632519	+	Frame_Shift_Ins	INS	-	-	AAAATAAAAGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:37632518_37632519insAAAATAAAAGT	ENST00000252011.3	+	11	1012_1013	c.979_980insAAAATAAAAGT	c.(979-981)gtgfs	p.V327fs	DHX35_ENST00000373323.4_Frame_Shift_Ins_p.V296fs|DHX35_ENST00000373325.2_Frame_Shift_Ins_p.V327fs	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	327	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GCAAATGAAAGTGTTTGAAAGG	0.495		NA											False	0	False	20:37632518	0
MMP9	4318	broad.mit.edu	37	20	44642047	44642048	+	Frame_Shift_Ins	INS	-	-	ACTTTCTTCT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:44642047_44642048insACTTTCTTCT	ENST00000372330.3	+	9	1503_1504	c.1484_1485insACTTTCTTCT	c.(1483-1488)ggtcccfs	p.P496fs		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	496					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	ggccccacaggtccccccactg	0.678		NA									OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	20:44642047	0
SLC12A5	57468	broad.mit.edu	37	20	44669103	44669104	+	Frame_Shift_Ins	INS	-	-	AGTCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:44669103_44669104insAGTCA	ENST00000243964.3	+	7	802_803	c.704_705insAGTCA	c.(703-708)acctgtfs	p.C236fs	SLC12A5_ENST00000454036.1_Frame_Shift_Ins_p.C259fs|SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000372315.1_Frame_Shift_Ins_p.C236fs	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	259					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTTTACGGCACCTGTGTGCTCA	0.545		NA											False	0	True	20:44669103	0
ADAMTS5	11096	broad.mit.edu	37	21	28327190	28327191	+	Splice_Site	INS	-	-	AAACACTTGTAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr21:28327190_28327191insAAACACTTGTAA	ENST00000284987.5	-	2	1226	c.1105_1105insTTACAAGTGTTT	c.(1105-1107)gat>TTACAAGTGTTTgat	p.368_369insLQVF		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	368	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCACATAAATCCTGCCCAGGAG	0.475		NA											False	0	False	21:28327190	0
CLDN17	26285	broad.mit.edu	37	21	31538725	31538726	+	In_Frame_Ins	INS	-	-	TATAAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr21:31538725_31538726insTATAAT	ENST00000286808.3	-	1	245_246	c.210_211insATTATA	c.(208-213)ttgttg>ttgATTATAttg	p.70_71LL>LIIL		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	70					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GGGAGAGCCAACAAGGAGCTAT	0.55		NA											False	0	False	21:31538725	0
CLDN17	26285	broad.mit.edu	37	21	31538727	31538728	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr21:31538727_31538728insTC	ENST00000286808.3	-	1	243_244	c.208_209insGA	c.(208-210)ttgfs	p.L70fs		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	70					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GAGAGCCAACAAGGAGCTATAG	0.55		NA											False	0	False	21:31538727	0
SON	6651	broad.mit.edu	37	21	34945731	34945732	+	In_Frame_Ins	INS	-	-	TTTTACAGTTAGAACTTGGTGACAGAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr21:34945731_34945732insTTTTACAGTTAGAACTTGGTGACAGAT	ENST00000381692.2	+	8	1128_1129	c.1087_1088insTTTTACAGTTAGAACTTGGTGACAGAT	c.(1087-1089)atc>aTTTTACAGTTAGAACTTGGTGACAGATtc	p.363_364insLQLELGDRF	SON_ENST00000356577.4_In_Frame_Ins_p.2335_2336insLQLELGDRF|AP000304.2_ENST00000439593.1_RNA|SON_ENST00000290239.6_3'UTR|SON_ENST00000470533.1_3'UTR			P18583	SON_HUMAN	SON DNA binding protein	2335					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TAAGGAACCCATCCTAGTTGAT	0.386		NA											False	0	False	21:34945731	0
ITSN1	6453	broad.mit.edu	37	21	35183426	35183427	+	In_Frame_Ins	INS	-	-	TCTTTAGATTGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr21:35183426_35183427insTCTTTAGATTGA	ENST00000381318.3	+	21	2755_2756	c.2467_2468insTCTTTAGATTGA	c.(2467-2469)cct>cTCTTTAGATTGAct	p.823_823P>LFRLT	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000399349.1_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000399352.1_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000379960.5_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000399353.1_In_Frame_Ins_p.781_781P>LFRLT|ITSN1_ENST00000399355.2_In_Frame_Ins_p.823_823P>LFRLT|ITSN1_ENST00000399367.3_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000399338.4_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000381285.4_In_Frame_Ins_p.823_823P>LFRLT|ITSN1_ENST00000381291.4_In_Frame_Ins_p.823_823P>LFRLT|ITSN1_ENST00000437442.2_In_Frame_Ins_p.818_818P>LFRLT	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	823					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AACATCTGCCCCTGCCCCCAAA	0.55		NA											False	0	True	21:35183426	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22657642	22657643	+	RNA	INS	-	-	TGCTTCGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:22657642_22657643insTGCTTCGT	ENST00000426066.1	+	0	54_55					NR_027293.1					NA											NA						GCACAAGGGAAAATCGGGCCCC	0.51		NA											False	0	True	22:22657642	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22657644	22657645	+	RNA	INS	-	-	AACGTTAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:22657644_22657645insAACGTTAG	ENST00000426066.1	+	0	56_57					NR_027293.1					NA											NA						ACAAGGGAAAATCGGGCCCCGA	0.51		NA											False	0	True	22:22657644	0
DUSP10	11221	broad.mit.edu	37	1	221879620	221879621	+	Frame_Shift_Ins	INS	-	-	TTGCTTTGAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:221879620_221879621insTTGCTTTGAT	ENST00000366899.3	-	3	1237_1238	c.999_1000insATCAAAGCAA	c.(997-1002)aatgagfs	p.E334fs	DUSP10_ENST00000323825.3_5'UTR|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	334					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GCATCCTGCTCATTGCCAAGGA	0.584		NA											False	0	False	1:221879620	0
SGSM1	129049	broad.mit.edu	37	22	25243745	25243746	+	In_Frame_Ins	INS	-	-	ACCTTG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:25243745_25243746insACCTTG	ENST00000400358.4	+	4	341_342	c.284_285insACCTTG	c.(283-288)gagcag>gaACCTTGgcag	p.95_96EQ>EPWQ	SGSM1_ENST00000400359.4_In_Frame_Ins_p.95_96EQ>EPWQ	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	95	RUN.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CAAGACCTGGAGCAGCTGATCG	0.589		NA											False	0	False	22:25243745	0
NEFH	4744	broad.mit.edu	37	22	29885067	29885068	+	In_Frame_Ins	INS	-	-	CCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:29885067_29885068insCCA	ENST00000310624.6	+	4	1471_1472	c.1438_1439insCCA	c.(1438-1440)gag>gCCAag	p.480_480E>AK		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	480	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						agaggccaaagaggaggagggc	0.525		NA											False	0	True	22:29885067	0
CYTH4	27128	broad.mit.edu	37	22	37688745	37688746	+	Splice_Site	INS	-	-	ACTTGCCCTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:37688745_37688746insACTTGCCCTA	ENST00000405206.3	+	2	185		c.e2+1		CYTH4_ENST00000248901.6_Splice_Site|CYTH4_ENST00000402997.1_Splice_Site|CYTH4_ENST00000439667.1_Splice_Site			Q9UIA0	CYH4_HUMAN	cytohesin 4	NA					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GGACATCCAGGTGAGTGCACAC	0.604		NA											False	0	False	22:37688745	0
IL1RAPL1	11141	broad.mit.edu	37	X	29938208	29938209	+	Frame_Shift_Ins	INS	-	-	AAGAAAGAAATGTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:29938208_29938209insAAGAAAGAAATGTA	ENST00000378993.1	+	8	1727_1728	c.1054_1055insAAGAAAGAAATGTA	c.(1054-1056)cgafs	p.R352fs	IL1RAPL1_ENST00000302196.4_Frame_Shift_Ins_p.R352fs	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	352					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.R352R(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CCTTCATAAACGAGGTGAGTGT	0.401		NA											False	0	False	X:29938208	0
CACNA1F	778	broad.mit.edu	37	X	49079450	49079451	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:49079450_49079451delGG	ENST00000376265.2	-	15	2116_2117	c.2055_2056delCC	c.(2053-2058)gaccagfs	p.DQ685fs	CACNA1F_ENST00000480889.1_5'UTR|CACNA1F_ENST00000323022.5_Frame_Shift_Del_p.DQ674fs|CACNA1F_ENST00000376251.1_Frame_Shift_Del_p.DQ620fs	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	685					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTGTGGGTCTGGTCAAAGTTGA	0.54		NA											False	2	False	X:49079450	0
CACNA1F	778	broad.mit.edu	37	X	49079451	49079452	+	Translation_Start_Site	INS	-	-	ATTTCATCATTCTCT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:49079451_49079452insATTTCATCATTCTCT	ENST00000480889.1	-	0	150_151				CACNA1F_ENST00000323022.5_In_Frame_Ins_p.674_674D>EENDEI|CACNA1F_ENST00000376265.2_In_Frame_Ins_p.685_685D>EENDEI|CACNA1F_ENST00000376251.1_In_Frame_Ins_p.620_620D>EENDEI			O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	NA					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TGTGGGTCTGGTCAAAGTTGAA	0.535		NA											False	0	False	X:49079451	0
SMC1A	8243	broad.mit.edu	37	X	53439889	53439890	+	In_Frame_Ins	INS	-	-	CTTGACTTGCAGTTTAGACAAATAGAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:53439889_53439890insCTTGACTTGCAGTTTAGACAAATAGAA	ENST00000322213.4	-	5	941_942	c.814_815insTTCTATTTGTCTAAACTGCAAGTCAAG	c.(814-816)aaa>aTTCTATTTGTCTAAACTGCAAGTCAAGaa	p.272_272K>ILFV*TASQE	SMC1A_ENST00000463684.1_5'UTR|SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	272					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						ccgcatcattttgcccagctcc	0.505		NA											False	0	True	X:53439889	0
IRS4	8471	broad.mit.edu	37	X	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-	rs2073114	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616		NA											False	2	True	X:107979510	0
TMEM255A	55026	broad.mit.edu	37	X	119402233	119402234	+	Frame_Shift_Ins	INS	-	-	AAAAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:119402233_119402234insAAAAA	ENST00000371369.4	-	8	910_911	c.684_685insTTTTT	c.(682-687)actctcfs	p.L229fs	TMEM255A_ENST00000309720.5_Frame_Shift_Ins_p.L253fs|TMEM255A_ENST00000371352.1_Frame_Shift_Ins_p.L89fs|TMEM255A_ENST00000440464.1_Frame_Shift_Ins_p.L145fs	NM_001104544.1	NP_001098014.1			transmembrane protein 255A	NA											NA						AGTGCTGGGAGAGTTGGGTTCT	0.386		NA											False	1	False	X:119402233	0
TMEM255A	55026	broad.mit.edu	37	X	119402235	119402236	+	In_Frame_Ins	INS	-	-	AACTCTGTATTACCC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:119402235_119402236insAACTCTGTATTACCC	ENST00000371369.4	-	8	908_909	c.682_683insGGGTAATACAGAGTT	c.(682-684)act>aGGGTAATACAGAGTTct	p.228_228T>RVIQSS	TMEM255A_ENST00000309720.5_In_Frame_Ins_p.252_252T>RVIQSS|TMEM255A_ENST00000371352.1_In_Frame_Ins_p.88_88T>RVIQSS|TMEM255A_ENST00000440464.1_In_Frame_Ins_p.144_144T>RVIQSS	NM_001104544.1	NP_001098014.1			transmembrane protein 255A	NA											NA						TGCTGGGAGAGTTGGGTTCTGT	0.386		NA											False	0	False	X:119402235	0
THOC2	57187	broad.mit.edu	37	X	122747350	122747351	+	Frame_Shift_Ins	INS	-	-	ATAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:122747350_122747351insATAG	ENST00000245838.8	-	36	4607_4608	c.4576_4577insCTAT	c.(4576-4578)aaafs	p.K1526fs	THOC2_ENST00000464992.1_5'UTR|THOC2_ENST00000355725.4_Frame_Shift_Ins_p.K1526fs|THOC2_ENST00000491737.1_Frame_Shift_Ins_p.K1411fs	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1526	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTCCTTGTCTTTCTCATTTGGA	0.337		NA											False	0	True	X:122747350	0
OR2T6	254879	broad.mit.edu	37	1	248551675	248551676	+	Frame_Shift_Ins	INS	-	-	CAGCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:248551675_248551676insCAGCA	ENST00000355728.2	+	1	766_767	c.766_767insCAGCA	c.(766-768)ttgfs	p.L256fs		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGGGCTGCCTTGTATACGTAT	0.475		NA											False	0	False	1:248551675	0
KIDINS220	57498	broad.mit.edu	37	2	8890457	8890458	+	In_Frame_Ins	INS	-	-	TTTATTTTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:8890457_8890458insTTTATTTTT	ENST00000256707.3	-	24	3379_3380	c.3198_3199insAAAAATAAA	c.(3196-3201)cgtgct>cgtAAAAATAAAgct	p.1066_1067RA>RKNKA	KIDINS220_ENST00000473731.1_In_Frame_Ins_p.1066_1067RA>RKNKA|KIDINS220_ENST00000427284.1_In_Frame_Ins_p.1066_1067RA>RKNKA|KIDINS220_ENST00000418530.1_In_Frame_Ins_p.1024_1025RA>RKNKA	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1066					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTCTGGCAGCACGAACATCTG	0.51		NA											False	0	False	2:8890457	0
APOB	338	broad.mit.edu	37	2	21236293	21236294	+	Frame_Shift_Ins	INS	-	-	TTACCACA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:21236293_21236294insTTACCACA	ENST00000233242.1	-	25	4081_4082	c.3954_3955insTGTGGTAA	c.(3952-3957)acaccafs	p.P1319fs		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1319					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGAGGGCTGGTGTCCTAACAG	0.431		NA											False	0	False	2:21236293	0
C2orf53	339779	broad.mit.edu	37	2	27360768	27360769	+	Frame_Shift_Ins	INS	-	-	CACA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:27360768_27360769insCACA	ENST00000335524.3	-	3	954_955	c.429_430insTGTG	c.(427-432)tgccagfs	p.Q144fs		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	144	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					gaaggggactggcaaggtgagt	0.614		NA											False	0	False	2:27360768	0
C2orf53	339779	broad.mit.edu	37	2	27360769	27360770	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:27360769_27360770insTT	ENST00000335524.3	-	3	953_954	c.428_429insAA	c.(427-429)tgcfs	p.C143fs		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	143	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					aaggggactggcaaggtgagtg	0.614		NA											False	0	False	2:27360769	0
LTBP1	4052	broad.mit.edu	37	2	33568029	33568030	+	Splice_Site	INS	-	-	AT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:33568029_33568030insAT	ENST00000402934.1	+	21	2831_2832	c.2718_2719insAT	c.(2719-2721)gat>ATgat	p.D907fs	LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000404816.2_Splice_Site_p.D1286fs|LTBP1_ENST00000404525.1_Splice_Site_p.D907fs|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000354476.3_Splice_Site_p.D1287fs|LTBP1_ENST00000407925.1_Splice_Site_p.D960fs|LTBP1_ENST00000390003.4_Splice_Site_p.D961fs			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1286	EGF-like 4; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGGGTGTGTGGGTGAGTTTTT	0.475		NA											False	0	True	2:33568029	0
LRPPRC	10128	broad.mit.edu	37	2	44161416	44161417	+	In_Frame_Ins	INS	-	-	GATTCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:44161416_44161417insGATTCA	ENST00000260665.7	-	25	2705_2706	c.2648_2649insTGAATC	c.(2647-2649)caa>caTGAATCa	p.883_883Q>HES		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	883					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CACCTTGTTCTTGGCTCACAAA	0.351		NA											False	0	False	2:44161416	0
MSH2	4436	broad.mit.edu	37	2	47637492	47637493	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:47637492_47637493insAG	ENST00000406134.1	+	3	688_689	c.626_627insAG	c.(625-630)gacatgfs	p.DM209fs	MSH2_ENST00000233146.2_Frame_Shift_Ins_p.DM209fs|MSH2_ENST00000543555.1_Frame_Shift_Ins_p.DM143fs			P43246	MSH2_HUMAN	mutS homolog 2	209					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACTGCTGGAGACATGGGGAAAC	0.436		NA	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				False	0	False	2:47637492	0
HK2	3099	broad.mit.edu	37	2	75107650	75107651	+	In_Frame_Ins	INS	-	-	AGGGCG	rs142174869		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:75107650_75107651insAGGGCG	ENST00000409174.1	+	10	1630_1631	c.1440_1441insAGGGCG	c.(1441-1443)gtc>AGGGCGgtc	p.480_481insRA	HK2_ENST00000290573.2_In_Frame_Ins_p.508_509insRA			P52789	HXK2_HUMAN	hexokinase 2	508	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.V509I(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CCAGTGCCCCCGTCAAGATGCT	0.594		NA											False	0	True	2:75107650	0
ELMOD3	84173	broad.mit.edu	37	2	85589382	85589383	+	Splice_Site	INS	-	-	CCAAAGATAATAGTTTAAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:85589382_85589383insCCAAAGATAATAGTTTAAA	ENST00000315658.7	+	3	387_388	c.128_129insCCAAAGATAATAGTTTAAA	c.(127-132)cctatc>ccCCAAAGATAATAGTTTAAAtatc	p.I44fs	ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000393852.4_Splice_Site_p.I44fs|ELMOD3_ENST00000428955.2_Splice_Site_p.I44fs|ELMOD3_ENST00000409890.2_Splice_Site_p.I44fs|ELMOD3_ENST00000409344.3_Splice_Site_p.I44fs|ELMOD3_ENST00000409013.3_Splice_Site_p.I44fs	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	44					phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						AGAGGAATCCCTGTATGTATCA	0.485		NA											False	0	True	2:85589382	0
ELMOD3	84173	broad.mit.edu	37	2	85589384	85589385	+	Splice_Site	INS	-	-	TCATACTTTTTTTTTTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:85589384_85589385insTCATACTTTTTTTTTTT	ENST00000315658.7	+	3	388		c.e3+1		ELMOD3_ENST00000490508.1_Splice_Site|ELMOD3_ENST00000393852.4_Splice_Site|ELMOD3_ENST00000428955.2_Splice_Site|ELMOD3_ENST00000409890.2_Splice_Site|ELMOD3_ENST00000409344.3_Splice_Site|ELMOD3_ENST00000409013.3_Splice_Site	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	NA					phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						AGGAATCCCTGTATGTATCACC	0.475		NA											False	0	True	2:85589384	0
IL1R1	3554	broad.mit.edu	37	2	102792134	102792135	+	In_Frame_Ins	INS	-	-	AAAAATAAGAGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:102792134_102792135insAAAAATAAGAGA	ENST00000424272.1	+	11	1573_1574	c.1332_1333insAAAAATAAGAGA	c.(1333-1335)tta>AAAAATAAGAGAtta	p.444_445insKNKR	AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409929.1_Intron|IL1R1_ENST00000409288.1_In_Frame_Ins_p.444_445insKNKR|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_In_Frame_Ins_p.444_445insKNKR|IL1R1_ENST00000410023.1_Intron|IL1R1_ENST00000233946.3_Intron			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	0	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	AGAGTAAAGGCTTATTGTTGTA	0.381		NA											False	0	False	2:102792134	0
SLC9A4	389015	broad.mit.edu	37	2	103120054	103120055	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:103120054_103120055insC	ENST00000295269.4	+	3	1325_1326	c.868_869insC	c.(868-870)tttfs	p.F290fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	290					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TATTTCTGCATTTATCACACGT	0.431		NA											False	0	True	2:103120054	0
SLC9A4	389015	broad.mit.edu	37	2	103120055	103120056	+	Frame_Shift_Ins	INS	-	-	TTGTAAAGGCAATTAACATATTG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:103120055_103120056insTTGTAAAGGCAATTAACATATTG	ENST00000295269.4	+	3	1326_1327	c.869_870insTTGTAAAGGCAATTAACATATTG	c.(868-873)tttatcfs	p.I291fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	291					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATTTCTGCATTTATCACACGTT	0.436		NA											False	0	True	2:103120055	0
CKAP2L	150468	broad.mit.edu	37	2	113509947	113509948	+	Frame_Shift_Ins	INS	-	-	AAGTCTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:113509947_113509948insAAGTCTT	ENST00000302450.6	-	5	1576_1577	c.1498_1499insAAGACTT	c.(1498-1500)ttcfs	p.-499fs	CKAP2L_ENST00000541405.1_Frame_Shift_Ins_p.-334fs	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	NA						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GCTCTTCCAGAATGAAATATTC	0.347		NA											False	0	False	2:113509947	0
PAX8	7849	broad.mit.edu	37	2	114004480	114004481	+	Frame_Shift_Ins	INS	-	-	GCTTGAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:114004480_114004481insGCTTGAC	ENST00000429538.3	-	3	235_236	c.41_42insGTCAAGC	c.(40-42)aacfs	p.N14fs	AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000397647.3_Frame_Shift_Ins_p.N14fs|PAX8_ENST00000348715.5_Frame_Shift_Ins_p.N14fs|PAX8_ENST00000263335.7_Frame_Shift_Ins_p.N14fs|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263334.5_Frame_Shift_Ins_p.N14fs|AC016683.6_ENST00000553869.2_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	14	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CTCCCAGCTGGTTCAGCCCTCC	0.589		NA	T	PPARG	follicular thyroid		Thyroid dysgenesis						False	0	False	2:114004480	0
UBXN4	23190	broad.mit.edu	37	2	136540358	136540359	+	Frame_Shift_Ins	INS	-	-	CATTATATCTACTAACACAGTACTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:136540358_136540359insCATTATATCTACTAACACAGTACTA	ENST00000272638.9	+	13	1739_1740	c.1428_1429insCATTATATCTACTAACACAGTACTA	c.(1429-1431)gacfs	p.D477fs	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	477					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AACGTGGAGACGACTTTAAAAA	0.371		NA											False	0	False	2:136540358	0
NEB	4703	broad.mit.edu	37	2	152512839	152512840	+	Frame_Shift_Ins	INS	-	-	CTAAATGGATAAGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:152512839_152512840insCTAAATGGATAAGA	ENST00000604864.1	-	47	6321_6322	c.6322_6323insTCTTATCCATTTAG	c.(6322-6324)aacfs	p.N2108fs	NEB_ENST00000409198.1_Frame_Shift_Ins_p.N2108fs|NEB_ENST00000172853.10_Frame_Shift_Ins_p.N2108fs|NEB_ENST00000397345.3_Frame_Shift_Ins_p.N2108fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.N2108fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.N2108fs			P20929	NEBU_HUMAN	nebulin	2108					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGTCTTTGTGTTCTCATAGTTT	0.48		NA											False	0	False	2:152512839	0
TMCO4	255104	broad.mit.edu	37	1	20009876	20009877	+	Frame_Shift_Ins	INS	-	-	CAGTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:20009876_20009877insCAGTA	ENST00000294543.6	-	16	1802_1803	c.1561_1562insTACTG	c.(1561-1563)cgcfs	p.R521fs	TMCO4_ENST00000375122.2_Frame_Shift_Ins_p.R481fs|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Frame_Shift_Ins_p.R521fs	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	521						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGGCTTGGTGCGGATGCCCACG	0.668		NA											False	0	False	1:20009876	0
EIF4G3	8672	broad.mit.edu	37	1	21307660	21307661	+	Frame_Shift_Ins	INS	-	-	TGTGGTATTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:21307660_21307661insTGTGGTATTA	ENST00000602326.1	-	7	694_695	c.111_112insTAATACCACA	c.(109-114)tccattfs	p.I38fs	EIF4G3_ENST00000264211.8_Frame_Shift_Ins_p.I31fs|EIF4G3_ENST00000400422.1_Frame_Shift_Ins_p.I31fs|EIF4G3_ENST00000374937.3_Frame_Shift_Ins_p.I38fs|EIF4G3_ENST00000374935.3_Frame_Shift_Ins_p.I31fs|EIF4G3_ENST00000374927.4_Frame_Shift_Ins_p.I31fs|EIF4G3_ENST00000356916.3_Frame_Shift_Ins_p.I42fs	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	31					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CCAGGACGAATGGAAGGACTGC	0.49		NA											False	0	False	1:21307660	0
MLTK	0	broad.mit.edu	37	2	174052350	174052351	+	Splice_Site	INS	-	-	TAATTCACATGTCTTATTCTTCCATGACT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:174052350_174052351insTAATTCACATGTCTTATTCTTCCATGACT	ENST00000338983.3	+	5	609_610	c.414_415insTAATTCACATGTCTTATTCTTCCATGACT	c.(415-417)gtt>TAATTCACATGTCTTATTCTTCCATGACTgtt	p.V139fs	MLTK_ENST00000375213.3_Splice_Site_p.V139fs|MLTK_ENST00000409176.2_Splice_Site_p.V139fs|MLTK_ENST00000431503.2_Splice_Site_p.V38fs|MLTK_ENST00000539448.1_Splice_Site_p.V139fs|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000480606.1_3'UTR	NM_133646.2	NP_598407.1				NA											NA						AGTCAAGAAACGGTAATGTAGT	0.312		NA											False	0	False	2:174052350	0
SCRN3	79634	broad.mit.edu	37	2	175264809	175264810	+	Frame_Shift_Ins	INS	-	-	AAAACCAGAAAAGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:175264809_175264810insAAAACCAGAAAAGT	ENST00000272732.6	+	3	401_402	c.319_320insAAAACCAGAAAAGT	c.(319-321)ctafs	p.L107fs	SCRN3_ENST00000409673.3_Frame_Shift_Ins_p.L100fs	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	107					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TGAAGAAGCACTATTAGGAATG	0.376		NA											False	0	False	2:175264809	0
GPR155	151556	broad.mit.edu	37	2	175346379	175346380	+	In_Frame_Ins	INS	-	-	TAAGTTAATTTTTATTTTTCAAGTGTTTAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:175346379_175346380insTAAGTTAATTTTTATTTTTCAAGTGTTTAA	ENST00000392552.2	-	2	543_544	c.305_306insTTAAACACTTGAAAAATAAAAATTAACTTA	c.(304-306)ttc>ttTTAAACACTTGAAAAATAAAAATTAACTTAc	p.102_103ins*TLEK*KLTY	GPR155_ENST00000295500.4_In_Frame_Ins_p.102_103ins*TLEK*KLTY|GPR155_ENST00000392551.2_In_Frame_Ins_p.102_103ins*TLEK*KLTY	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	102					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TACTATATAGGAAGGACCAGTC	0.366		NA											False	0	True	2:175346379	0
CHRNA1	1134	broad.mit.edu	37	2	175618381	175618382	+	Frame_Shift_Ins	INS	-	-	ATCATGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:175618381_175618382insATCATGT	ENST00000409219.1	-	6	644_645	c.627_628insACATGAT	c.(625-630)acctatfs	p.Y210fs	CHRNA1_ENST00000348749.5_Frame_Shift_Ins_p.Y210fs|CHRNA1_ENST00000409542.1_Frame_Shift_Ins_p.Y128fs|CHRNA1_ENST00000409323.1_Frame_Shift_Ins_p.Y210fs|CHRNA1_ENST00000261007.5_Frame_Shift_Ins_p.Y235fs|AC018890.6_ENST00000442996.1_RNA			P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	235					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CAGCAGGAATAGGTCACGGAGT	0.589		NA											False	0	False	2:175618381	0
HECW2	57520	broad.mit.edu	37	2	197138826	197138827	+	Frame_Shift_Ins	INS	-	-	TACTTTTTGCCCT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:197138826_197138827insTACTTTTTGCCCT	ENST00000409111.1	-	14	3102_3103	c.2088_2089insAGGGCAAAAAGTA	c.(2086-2091)catgcafs	p.A697fs	HECW2_ENST00000260983.2_Frame_Shift_Ins_p.A1053fs			Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1053					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGTGGTCCTGCATGTCGAGAAT	0.47		NA											False	0	False	2:197138826	0
EEF1B2	1933	broad.mit.edu	37	2	207026168	207026169	+	Frame_Shift_Ins	INS	-	-	CCTTTTCCAGAAAATACAAAATAACTTG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:207026168_207026169insCCTTTTCCAGAAAATACAAAATAACTTG	ENST00000392222.2	+	3	677_678	c.302_303insCCTTTTCCAGAAAATACAAAATAACTTG	c.(301-306)attgacfs	p.D102fs	EEF1B2_ENST00000236957.5_Frame_Shift_Ins_p.D102fs|EEF1B2_ENST00000392221.1_Frame_Shift_Ins_p.D102fs	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	102						cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						GATGATGACATTGACCTCTTTG	0.485		NA											False	0	False	2:207026168	0
PRKAG3	53632	broad.mit.edu	37	2	219688575	219688576	+	Frame_Shift_Ins	INS	-	-	AGCTATGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:219688575_219688576insAGCTATGA	ENST00000529249.1	-	13	1694_1695	c.1379_1380insTCATAGCT	c.(1378-1380)gagfs	p.E460fs	PRKAG3_ENST00000545803.1_Frame_Shift_Ins_p.E276fs|PRKAG3_ENST00000439262.2_Frame_Shift_Ins_p.E435fs			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	460	CBS 4.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATGCTGGGTCTCGTCCACTAG	0.604		NA											False	0	False	2:219688575	0
RIF1	55183	broad.mit.edu	37	2	152321847	152321848	+	In_Frame_Ins	INS	-	-	TTCTTT	rs139052966		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:152321847_152321848insTTCTTT	ENST00000243326.4	+	29	6296_6297	c.5813_5814insTTCTTT	c.(5812-5817)tctgaa>tcTTCTTTtgaa	p.1938_1939SE>SSFE	RIF1_ENST00000428287.2_In_Frame_Ins_p.1938_1939SE>SSFE|RIF1_ENST00000430328.2_In_Frame_Ins_p.1938_1939SE>SSFE|RIF1_ENST00000453091.2_In_Frame_Ins_p.1938_1939SE>SSFE|RIF1_ENST00000444746.2_In_Frame_Ins_p.1938_1939SE>SSFE			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1938	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ACTGGTATTTCTGAAGAAGCAG	0.351		NA											False	0	False	2:152321847	0
RIF1	55183	broad.mit.edu	37	2	152321849	152321850	+	In_Frame_Ins	INS	-	-	TCTCCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:152321849_152321850insTCTCCA	ENST00000243326.4	+	29	6298_6299	c.5815_5816insTCTCCA	c.(5815-5817)gaa>gTCTCCAaa	p.1939_1939E>VSK	RIF1_ENST00000428287.2_In_Frame_Ins_p.1939_1939E>VSK|RIF1_ENST00000430328.2_In_Frame_Ins_p.1939_1939E>VSK|RIF1_ENST00000453091.2_In_Frame_Ins_p.1939_1939E>VSK|RIF1_ENST00000444746.2_In_Frame_Ins_p.1939_1939E>VSK			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1939	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGGTATTTCTGAAGAAGCAGCA	0.351		NA											False	0	False	2:152321849	0
TTN	7273	broad.mit.edu	37	2	179428453	179428454	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:179428453_179428454insA	ENST00000589042.1	-	326	82629_82630	c.82405_82406insT	c.(82405-82407)ccafs	p.P27469fs	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.P25828fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.P18529fs|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.P24901fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.P18404fs|TTN_ENST00000342175.6_Frame_Shift_Ins_p.P18596fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25828							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGACCTGGTGGCTTATAAGGA	0.48		NA											False	0	False	2:179428453	0
TTN	7273	broad.mit.edu	37	2	179428455	179428456	+	Frame_Shift_Ins	INS	-	-	CATCTGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:179428455_179428456insCATCTGT	ENST00000589042.1	-	326	82627_82628	c.82403_82404insACAGATG	c.(82402-82404)aagfs	p.-27468fs	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.-25827fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.-18528fs|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.-24900fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.-18403fs|TTN_ENST00000342175.6_Frame_Shift_Ins_p.-18595fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	NA							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACCTGGTGGCTTATAAGGATT	0.48		NA											False	0	False	2:179428455	0
ZDBF2	57683	broad.mit.edu	37	2	207173128	207173129	+	Frame_Shift_Ins	INS	-	-	TTAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:207173128_207173129insTTAG	ENST00000374423.3	+	5	4262_4263	c.3876_3877insTTAG	c.(3877-3879)cttfs	p.-1293fs		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	NA							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CTCATGAACCCCTTCAGTCCGT	0.381		NA											False	0	True	2:207173128	0
COL6A3	1293	broad.mit.edu	37	2	238285600	238285601	+	In_Frame_Ins	INS	-	-	ATGGTAGAGAAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:238285600_238285601insATGGTAGAGAAA	ENST00000295550.4	-	7	3336_3337	c.2884_2885insTTTCTCTACCAT	c.(2884-2886)aac>aTTTCTCTACCATac	p.962_962N>ISLPY	COL6A3_ENST00000472056.1_In_Frame_Ins_p.355_355N>ISLPY|COL6A3_ENST00000346358.4_In_Frame_Ins_p.762_762N>ISLPY|COL6A3_ENST00000347401.3_In_Frame_Ins_p.761_761N>ISLPY|COL6A3_ENST00000392003.2_In_Frame_Ins_p.555_555N>ISLPY|COL6A3_ENST00000353578.4_In_Frame_Ins_p.756_756N>ISLPY|COL6A3_ENST00000392004.3_In_Frame_Ins_p.756_756N>ISLPY|COL6A3_ENST00000409809.1_In_Frame_Ins_p.756_756N>ISLPY	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	962	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCTTCAGGTTACTTGCTGGC	0.559		NA											False	0	False	2:238285600	0
SLC4A7	9497	broad.mit.edu	37	3	27460104	27460105	+	Frame_Shift_Ins	INS	-	-	TTTAATAAAATTTTTTTTG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:27460104_27460105insTTTAATAAAATTTTTTTTG	ENST00000295736.5	-	11	1574_1575	c.1504_1505insCAAAAAAAATTTTATTAAA	c.(1504-1506)tatfs	p.Y502fs	SLC4A7_ENST00000446700.1_Frame_Shift_Ins_p.Y494fs|SLC4A7_ENST00000437179.1_Frame_Shift_Ins_p.Y383fs|SLC4A7_ENST00000445684.1_Frame_Shift_Ins_p.Y498fs|SLC4A7_ENST00000440156.1_Frame_Shift_Ins_p.Y498fs|SLC4A7_ENST00000425128.2_Frame_Shift_Ins_p.Y494fs|SLC4A7_ENST00000454389.1_Frame_Shift_Ins_p.Y511fs|SLC4A7_ENST00000428386.1_Frame_Shift_Ins_p.Y378fs|SLC4A7_ENST00000388777.4_Frame_Shift_Ins_p.Y52fs|SLC4A7_ENST00000435667.2_Frame_Shift_Ins_p.Y387fs|SLC4A7_ENST00000455077.1_Frame_Shift_Ins_p.Y383fs	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	502						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TTTTGCTTTATAAGCTACATCA	0.312		NA											False	0	False	3:27460104	0
SACM1L	22908	broad.mit.edu	37	3	45744994	45744995	+	Translation_Start_Site	INS	-	-	AATGAAATGAAGACTTCTAAAAAACTACTTATTATGACAATTACAGAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:45744994_45744995insAATGAAATGAAGACTTCTAAAAAACTACTTATTATGACAATTACAGAG	ENST00000418611.1	+	0	362_363				SACM1L_ENST00000541314.1_In_Frame_Ins_p.14_15insNEMKTSKKLLIMTITE|SACM1L_ENST00000389061.5_In_Frame_Ins_p.33_33I>K*NEDF*KTTYYDNYRV|SACM1L_ENST00000464524.1_3'UTR			Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	NA						Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CGTACTTACCATTGACCGTGTG	0.337		NA											False	0	False	3:45744994	0
TLR9	54106	broad.mit.edu	37	3	52256448	52256449	+	In_Frame_Ins	INS	-	-	GAAGTC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:52256448_52256449insGAAGTC	ENST00000494383.1	-	5	2342_2343	c.2343_2344insGACTTC	c.(2341-2346)gagcgg>gagGACTTCcgg	p.781_782ER>EDFR	TLR9_ENST00000360658.2_In_Frame_Ins_p.627_628insRT|TLR9_ENST00000597542.1_In_Frame_Ins_p.651_652insRT			Q9NR96	TLR9_HUMAN	toll-like receptor 9	680					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	AGATCAAACCGCTCAGGCCTTG	0.624		NA											False	0	False	3:52256448	0
STPG1	90529	broad.mit.edu	37	1	24706298	24706299	+	In_Frame_Ins	INS	-	-	TTACTAAAATAAAAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:24706298_24706299insTTACTAAAATAAAAG	ENST00000374409.1	-	5	560_561	c.306_307insCTTTTATTTTAGTAA	c.(304-309)gacacc>gacCTTTTATTTTAGTAAacc	p.102_103DT>DLLF**T	STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000003583.8_In_Frame_Ins_p.55_56DT>DLLF**T|STPG1_ENST00000440416.1_In_Frame_Ins_p.55_56DT>DLLF**T|STPG1_ENST00000337248.4_In_Frame_Ins_p.102_103DT>DLLF**T	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1	NA											NA						GAAATGATGGTGTCCAATCGGG	0.426		NA											False	0	False	1:24706298	0
EYA3	2140	broad.mit.edu	37	1	28362170	28362171	+	Frame_Shift_Ins	INS	-	-	TTGATCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:28362170_28362171insTTGATCA	ENST00000373871.3	-	6	485_486	c.245_246insTGATCAA	c.(244-246)tcafs	p.-82fs	EYA3_ENST00000373863.3_Frame_Shift_Ins_p.-82fs|EYA3_ENST00000540618.1_Frame_Shift_Ins_p.-82fs|EYA3_ENST00000545175.1_Frame_Shift_Ins_p.-29fs|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373864.1_Intron|EYA3_ENST00000436342.2_5'UTR			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	NA					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		AAACAGGAACTGAGAGAATATG	0.401		NA											False	0	True	1:28362170	0
RBM15B	29890	broad.mit.edu	37	3	51430706	51430707	+	Frame_Shift_Ins	INS	-	-	TTTTACT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:51430706_51430707insTTTTACT	ENST00000323686.4	+	1	1976_1977	c.1876_1877insTTTTACT	c.(1876-1878)cggfs	p.R626fs		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	626					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCAGTCAGAGCGGGGCTCCGAC	0.614		NA											False	0	True	3:51430706	0
KBTBD8	84541	broad.mit.edu	37	3	67054436	67054437	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:67054436_67054437insT	ENST00000417314.2	+	3	1094_1095	c.1045_1046insT	c.(1045-1047)gagfs	p.E349fs	KBTBD8_ENST00000295568.4_Frame_Shift_Ins_p.E323fs|KBTBD8_ENST00000460576.1_Intron			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	349										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AAGCAGCAGTGAGGTCTCCATC	0.441		NA											False	0	False	3:67054436	0
KBTBD8	84541	broad.mit.edu	37	3	67054437	67054438	+	Frame_Shift_Ins	INS	-	-	CAGCCATT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:67054437_67054438insCAGCCATT	ENST00000417314.2	+	3	1095_1096	c.1046_1047insCAGCCATT	c.(1045-1050)gaggtcfs	p.EV349fs	KBTBD8_ENST00000295568.4_Frame_Shift_Ins_p.EV323fs|KBTBD8_ENST00000460576.1_Intron			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	349										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AGCAGCAGTGAGGTCTCCATCG	0.441		NA											False	0	False	3:67054437	0
EPHA6	285220	broad.mit.edu	37	3	97251389	97251389	+	Splice_Site	DEL	T	T	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:97251389delT	ENST00000514100.1	+	8	804		c.e8+2		EPHA6_ENST00000442602.2_Splice_Site|EPHA6_ENST00000502694.1_Splice_Site|EPHA6_ENST00000389672.5_Splice_Site	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	NA						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCACCAAAAGTAAGTTACTGA	0.358		NA											False	1	True	3:97251389	0
DZIP3	9666	broad.mit.edu	37	3	108351911	108351912	+	Frame_Shift_Ins	INS	-	-	CAATTAAGACTACCCAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:108351911_108351912insCAATTAAGACTACCCAT	ENST00000361582.3	+	9	1038_1039	c.808_809insCAATTAAGACTACCCAT	c.(808-810)agtfs	p.S270fs	DZIP3_ENST00000463306.1_Frame_Shift_Ins_p.S270fs	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	270					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GAAGAACACCAGTTATAAGGTA	0.233		NA											False	0	False	3:108351911	0
SLC35G2	80723	broad.mit.edu	37	3	136573909	136573910	+	Frame_Shift_Ins	INS	-	-	ACACAGATAAGACCTGAAAAACAGAACGGATAAAAAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:136573909_136573910insACACAGATAAGACCTGAAAAACAGAACGGATAAAAAT	ENST00000446465.2	+	2	1235_1236	c.607_608insACACAGATAAGACCTGAAAAACAGAACGGATAAAAAT	c.(607-609)acafs	p.T203fs	RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Frame_Shift_Ins_p.T203fs	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	203	DUF6 1.					Golgi apparatus|integral to membrane					NA						AGCCACAACTACAGTCTTCAGT	0.401		NA											False	0	False	3:136573909	0
IGSF10	285313	broad.mit.edu	37	3	151165331	151165332	+	Frame_Shift_Ins	INS	-	-	AATATAAACCCAACCATGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:151165331_151165332insAATATAAACCCAACCATGT	ENST00000282466.3	-	4	2436_2437	c.2437_2438insACATGGTTGGGTTTATATT	c.(2437-2439)gctfs	p.A813fs		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	813					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGGTTCAAAGCTTTAGTGGCC	0.47		NA											False	0	True	3:151165331	0
SEC62	7095	broad.mit.edu	37	3	169700583	169700584	+	Frame_Shift_Ins	INS	-	-	GGCATAAATTAGCAACACAAGAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:169700583_169700584insGGCATAAATTAGCAACACAAGAG	ENST00000337002.4	+	4	398_399	c.340_341insGGCATAAATTAGCAACACAAGAG	c.(340-342)aaafs	p.K114fs	SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000480708.1_Frame_Shift_Ins_p.K114fs	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	114					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						agataaaggaaaagctgaaagt	0.282		NA											False	0	True	3:169700583	0
ATP13A5	344905	broad.mit.edu	37	3	192992915	192992916	+	Frame_Shift_Ins	INS	-	-	TATATTTTCAATGAATTAAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:192992915_192992916insTATATTTTCAATGAATTAAA	ENST00000342358.4	-	30	3689_3690	c.3572_3573insTTTAATTCATTGAAAATATA	c.(3571-3573)ggcfs	p.-1191fs	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	NA					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGCTTTCATAGCCTCCGTTGAT	0.45		NA											False	0	False	3:192992915	0
LMLN	89782	broad.mit.edu	37	3	197701344	197701345	+	Splice_Site	INS	-	-	ACATAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:197701344_197701345insACATAC	ENST00000330198.4	+	2	338_339	c.316_317insACATAC	c.(316-318)gag>gACATACag	p.106_106E>DIQ	LMLN_ENST00000420910.2_Splice_Site_p.106_106E>DIQ|LMLN_ENST00000332636.5_Splice_Site_p.54_54E>DIQ|LMLN_ENST00000482695.1_Splice_Site_p.54_54E>DIQ	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	106			E -> D (in dbSNP:rs7373165).		cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		AAGTGTTGAAGAGTAAGTACAC	0.297		NA											False	0	True	3:197701344	0
LMLN	89782	broad.mit.edu	37	3	197701346	197701347	+	Splice_Site	INS	-	-	ATTAACCCACTGCAATCCAAACTTAAAATTAATGAAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:197701346_197701347insATTAACCCACTGCAATCCAAACTTAAAATTAATGAAC	ENST00000330198.4	+	2	339		c.e2+1		LMLN_ENST00000420910.2_Splice_Site|LMLN_ENST00000332636.5_Splice_Site|LMLN_ENST00000482695.1_Splice_Site	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	NA					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GTGTTGAAGAGTAAGTACACCA	0.292		NA											False	0	True	3:197701346	0
RNF212	285498	broad.mit.edu	37	4	1075255	1075256	+	Splice_Site	INS	-	-	CTAATCCATACAGTTGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:1075255_1075256insCTAATCCATACAGTTGA	ENST00000382968.5	-	7	513	c.416_416insTCAACTGTATGGATTAG	c.(415-417)aca>aTCAACTGTATGGATTAGca	p.T139fs	RNF212_ENST00000433731.2_Splice_Site_p.T139fs	NM_001131034.3|NM_194439.4	NP_001124506.1|NP_919420.1	Q495C1	RN212_HUMAN	ring finger protein 212	139							zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		GTGTGGTTTTGCTGGAAGAGTG	0.495		NA											False	0	False	4:1075255	0
HTT	3064	broad.mit.edu	37	4	3188389	3188390	+	Frame_Shift_Ins	INS	-	-	CTCATTTAAAAGCATT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:3188389_3188390insCTCATTTAAAAGCATT	ENST00000355072.5	+	38	5077_5078	c.4932_4933insCTCATTTAAAAGCATT	c.(4933-4935)tccfs	p.S1645fs		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1645					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGGCCCCTTCCTCCCTCCGTCC	0.46		NA											False	0	True	4:3188389	0
PUM1	9698	broad.mit.edu	37	1	31439012	31439013	+	Frame_Shift_Ins	INS	-	-	ATATGCTCTTAAGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:31439012_31439013insATATGCTCTTAAGA	ENST00000373747.3	-	13	2004_2005	c.1905_1906insTCTTAAGAGCATAT	c.(1903-1908)cagcagfs	p.Q636fs	PUM1_ENST00000373741.4_Frame_Shift_Ins_p.Q671fs|PUM1_ENST00000440538.2_Frame_Shift_Ins_p.Q609fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.Q576fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.Q491fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.Q635fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.Q393fs|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000257075.5_Frame_Shift_Ins_p.Q635fs	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	635					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TTATTgggctgctgctggggct	0.559		NA											False	0	True	1:31439012	0
CLSPN	63967	broad.mit.edu	37	1	36202191	36202192	+	Frame_Shift_Ins	INS	-	-	GAATT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:36202191_36202192insGAATT	ENST00000318121.3	-	25	3982_3983	c.3925_3926insAATTC	c.(3925-3927)ccafs	p.P1309fs	CLSPN_ENST00000251195.5_Intron|CLSPN_ENST00000466308.1_5'UTR|CLSPN_ENST00000373220.3_Frame_Shift_Ins_p.P1245fs|CLSPN_ENST00000520551.1_Frame_Shift_Ins_p.P1256fs	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1309					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATGAAAGATGGACCCCTTTTC	0.421		NA											False	0	False	1:36202191	0
SHROOM3	57619	broad.mit.edu	37	4	77680837	77680838	+	Frame_Shift_Ins	INS	-	-	GTCC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:77680837_77680838insGTCC	ENST00000296043.6	+	9	6291_6292	c.5338_5339insGTCC	c.(5338-5340)aatfs	p.N1780fs	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1780	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGCAGATGTCAATGAAAAGAAG	0.465		NA											False	0	False	4:77680837	0
SHROOM3	57619	broad.mit.edu	37	4	77680839	77680840	+	In_Frame_Ins	INS	-	-	TCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:77680839_77680840insTCA	ENST00000296043.6	+	9	6293_6294	c.5340_5341insTCA	c.(5341-5343)gaa>TCAgaa	p.1780_1781insS	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1780	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAGATGTCAATGAAAAGAAGGT	0.46		NA											False	0	True	4:77680839	0
THAP9	79725	broad.mit.edu	37	4	83838309	83838310	+	Frame_Shift_Ins	INS	-	-	CTGGACT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:83838309_83838310insCTGGACT	ENST00000302236.5	+	5	995_996	c.944_945insCTGGACT	c.(943-948)acgccafs	p.P316fs	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	316							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GCTGATGAAACGCCACTTGCTT	0.416		NA											False	0	False	4:83838309	0
CENPE	1062	broad.mit.edu	37	4	104057403	104057404	+	Frame_Shift_Ins	INS	-	-	ATTTAGTATTC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:104057403_104057404insATTTAGTATTC	ENST00000380026.3	-	38	6141_6142	c.6053_6054insGAATACTAAAT	c.(6052-6054)aaafs	p.K2018fs	CENPE_ENST00000265148.3_Frame_Shift_Ins_p.K2139fs			Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2070					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AGAGGTTTGCTTTAACTCTCAT	0.361		NA											False	0	True	4:104057403	0
CCDC109B	55013	broad.mit.edu	37	4	110606512	110606513	+	Frame_Shift_Ins	INS	-	-	GCAGATGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:110606512_110606513insGCAGATGA	ENST00000394650.4	+	7	1055_1056	c.922_923insGCAGATGA	c.(922-924)gacfs	p.D308fs		NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	308						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		GTTAAAAGAAGACCTTGCTAAG	0.381		NA											False	0	False	4:110606512	0
LRIT3	345193	broad.mit.edu	37	4	110791066	110791067	+	In_Frame_Ins	INS	-	-	AAGAAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:110791066_110791067insAAGAAA	ENST00000327908.3	+	4	1376_1377	c.612_613insAAGAAA	c.(613-615)tcc>AAGAAAtcc	p.204_205insKK	LRIT3_ENST00000409621.2_In_Frame_Ins_p.204_205insKK|LRIT3_ENST00000594814.1_In_Frame_Ins_p.387_388insKK|LRIT3_ENST00000379920.3_In_Frame_Ins_p.342_343insKK			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	342	LRRCT.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CATATCTTTGGtcctcttcctt	0.47		NA											False	0	False	4:110791066	0
BBS12	166379	broad.mit.edu	37	4	123663407	123663408	+	In_Frame_Ins	INS	-	-	CTGTTG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:123663407_123663408insCTGTTG	ENST00000314218.3	+	2	553_554	c.360_361insCTGTTG	c.(361-363)aac>CTGTTGaac	p.120_121insLL	BBS12_ENST00000542236.1_In_Frame_Ins_p.120_121insLL	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	120					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CAGAAGGCTTAAACTTTTGTAG	0.366		NA							Bardet-Biedl syndrome				False	0	True	4:123663407	0
FBXW7	0	broad.mit.edu	37	4	153268210	153268211	+	In_Frame_Ins	INS	-	-	TTGAAATGCCTCACTTAATTGCTGCAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:153268210_153268211insTTGAAATGCCTCACTTAATTGCTGCAA	ENST00000281708.4	-	4	1826_1827	c.597_598insTTGCAGCAATTAAGTGAGGCATTTCAA	c.(595-600)cttgta>cttTTGCAGCAATTAAGTGAGGCATTTCAAgta	p.199_200LV>LLQQLSEAFQV	FBXW7_ENST00000603548.1_In_Frame_Ins_p.199_200LV>LLQQLSEAFQV|FBXW7_ENST00000296555.5_In_Frame_Ins_p.81_82LV>LLQQLSEAFQV|FBXW7_ENST00000603841.1_In_Frame_Ins_p.199_200LV>LLQQLSEAFQV|FBXW7_ENST00000393956.3_In_Frame_Ins_p.23_24LV>LLQQLSEAFQV|FBXW7_ENST00000263981.5_In_Frame_Ins_p.119_120LV>LLQQLSEAFQV	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	199					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GAACATGGTACAAGCCCAGTGG	0.401		NA	"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								False	0	False	4:153268210	0
KLHL2	11275	broad.mit.edu	37	4	166235300	166235301	+	Frame_Shift_Ins	INS	-	-	AGAGATTTATATCATATTAGGTTTATTTAAATGAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:166235300_166235301insAGAGATTTATATCATATTAGGTTTATTTAAATGAC	ENST00000226725.6	+	13	1850_1851	c.1591_1592insAGAGATTTATATCATATTAGGTTTATTTAAATGAC	c.(1591-1593)atgfs	p.M531fs	KLHL2_ENST00000506761.1_Frame_Shift_Ins_p.M365fs|KLHL2_ENST00000538127.1_Frame_Shift_Ins_p.M443fs|KLHL2_ENST00000421009.2_Frame_Shift_Ins_p.M434fs|KLHL2_ENST00000514860.1_Frame_Shift_Ins_p.M535fs|KLHL2_ENST00000509028.1_3'UTR	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	531					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AGATATGAACATGTGCAGAAGA	0.356		NA											False	0	False	4:166235300	0
AADAT	51166	broad.mit.edu	37	4	171008362	171008363	+	In_Frame_Ins	INS	-	-	GGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:171008362_171008363insGGA	ENST00000337664.4	-	3	549_550	c.273_274insTCC	c.(271-276)caaata>caaTCCata	p.91_92QI>QSI	AADAT_ENST00000509167.1_In_Frame_Ins_p.95_96QI>QSI|AADAT_ENST00000353187.2_In_Frame_Ins_p.91_92QI>QSI|AADAT_ENST00000515480.1_In_Frame_Ins_p.91_92QI>QSI	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	91					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGCAATTTTATTTGTAACTGTT	0.361		NA											False	0	True	4:171008362	0
AADAT	51166	broad.mit.edu	37	4	171008365	171008367	+	In_Frame_Del	DEL	GTA	GTA	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	GTA	GTA	-	-	GTA	GTA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:171008365_171008367delGTA	ENST00000337664.4	-	3	545_547	c.269_271delTAC	c.(268-273)ttacaa>taa	p.90_91LQ>*	AADAT_ENST00000509167.1_In_Frame_Del_p.94_95LQ>*|AADAT_ENST00000353187.2_In_Frame_Del_p.90_91LQ>*|AADAT_ENST00000515480.1_In_Frame_Del_p.90_91LQ>*	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	90					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AATTTTATTTGTAACTGTTTTAG	0.355		NA											False	1	False	4:171008365	0
TENM3	55714	broad.mit.edu	37	4	183600995	183600996	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:183600995_183600996insA	ENST00000511685.1	+	8	1626_1627	c.1503_1504insA	c.(1504-1506)gcafs	p.A502fs	TENM3_ENST00000406950.2_Frame_Shift_Ins_p.A502fs					teneurin transmembrane protein 3	NA											NA						ATGGGAAAAATGCAGAGCAGGT	0.436		NA											False	0	False	4:183600995	0
TENM3	55714	broad.mit.edu	37	4	183600996	183600997	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:183600996_183600997insT	ENST00000511685.1	+	8	1627_1628	c.1504_1505insT	c.(1504-1506)gcafs	p.A502fs	TENM3_ENST00000406950.2_Frame_Shift_Ins_p.A502fs					teneurin transmembrane protein 3	NA											NA						TGGGAAAAATGCAGAGCAGGTG	0.431		NA											False	0	False	4:183600996	0
CASP3	836	broad.mit.edu	37	4	185550531	185550532	+	In_Frame_Ins	INS	-	-	AAGTGAGAAGATGGTATATTTGGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:185550531_185550532insAAGTGAGAAGATGGTATATTTGGT	ENST00000308394.4	-	8	990_991	c.728_729insACCAAATATACCATCTTCTCACTT	c.(727-729)gtg>gtACCAAATATACCATCTTCTCACTTg	p.243_244insPNIPSSHL	CASP3_ENST00000523916.1_In_Frame_Ins_p.243_244insPNIPSSHL|CASP3_ENST00000517513.1_3'UTR|CASP3_ENST00000393585.2_3'UTR	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	243					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	ATTCTGTTGCCACCTTTCGGTT	0.416		NA											False	0	False	4:185550531	0
CASP3	836	broad.mit.edu	37	4	185550533	185550534	+	In_Frame_Ins	INS	-	-	TGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:185550533_185550534insTGT	ENST00000308394.4	-	8	988_989	c.726_727insACA	c.(724-729)aaggtg>aagACAgtg	p.242_243KV>KTV	CASP3_ENST00000523916.1_In_Frame_Ins_p.242_243KV>KTV|CASP3_ENST00000517513.1_3'UTR|CASP3_ENST00000393585.2_3'UTR	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	242					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	TCTGTTGCCACCTTTCGGTTAA	0.416		NA											False	0	True	4:185550533	0
TRIO	7204	broad.mit.edu	37	5	14399169	14399170	+	Frame_Shift_Ins	INS	-	-	AAAAATAAAAACTGATGCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:14399169_14399170insAAAAATAAAAACTGATGCA	ENST00000344204.4	+	30	4628_4629	c.4604_4605insAAAAATAAAAACTGATGCA	c.(4603-4608)agcaaafs	p.SK1535fs	TRIO_ENST00000537187.1_Frame_Shift_Ins_p.SK1535fs|TRIO_ENST00000509967.2_Frame_Shift_Ins_p.SK1486fs	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1535	PH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTTTATAAAAGCAAATTGTTTG	0.356		NA											False	0	True	5:14399169	0
AP3B1	8546	broad.mit.edu	37	5	77423982	77423983	+	In_Frame_Ins	INS	-	-	AGG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:77423982_77423983insAGG	ENST00000519295.1	-	17	1963_1964	c.1692_1693insCCT	c.(1690-1695)gataga>gatCCTaga	p.564_565DR>DPR	AP3B1_ENST00000255194.6_In_Frame_Ins_p.613_614DR>DPR	NM_003664.3	NP_003655.3	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	613					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AAATGATCTCTATCTATTAAAA	0.371		NA							Hermansky-Pudlak syndrome				False	0	True	5:77423982	0
AP3B1	8546	broad.mit.edu	37	5	77423984	77423985	+	Splice_Site	INS	-	-	AG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:77423984_77423985insAG	ENST00000519295.1	-	17	1962	c.1691_1691insCT	c.(1690-1692)gat>gCTat	p.D564fs	AP3B1_ENST00000255194.6_Splice_Site_p.D613fs	NM_003664.3	NP_003655.3	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	613					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATGATCTCTATCTATTAAAAAT	0.366		NA							Hermansky-Pudlak syndrome				False	0	True	5:77423984	0
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534		NA											False	1	False	5:78610444	0
CHD1	1105	broad.mit.edu	37	5	98192165	98192167	+	In_Frame_Del	DEL	AGG	AGG	-	rs79267787		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	AGG	AGG	-	-	AGG	AGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:98192165_98192167delAGG	ENST00000284049.3	-	35	5199_5201	c.5050_5052delCCT	c.(5050-5052)cctdel	p.P1684del		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1684					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	p.P1684delP(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TGGAGCCATAAGGAGATCTCTGA	0.453		NA											False	1	False	5:98192165	0
DMXL1	1657	broad.mit.edu	37	5	118507561	118507562	+	Frame_Shift_Ins	INS	-	-	TAAAAAATAAAAGCATA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:118507561_118507562insTAAAAAATAAAAGCATA	ENST00000311085.8	+	25	6658_6659	c.6578_6579insTAAAAAATAAAAGCATA	c.(6577-6582)gtagttfs	p.V2194fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.V2194fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2194										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCCAAAACAGTAGTTGCCAATC	0.406		NA											False	0	False	5:118507561	0
MACF1	23499	broad.mit.edu	37	1	39888208	39888209	+	Splice_Site	INS	-	-	CTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:39888208_39888209insCTA	ENST00000372915.3	+	58	16080		c.e58+1		MACF1_ENST00000545844.1_Splice_Site|MACF1_ENST00000361689.2_Splice_Site|MACF1_ENST00000564288.1_Splice_Site|MACF1_ENST00000539005.1_Splice_Site|MACF1_ENST00000289893.4_Splice_Site|MACF1_ENST00000567887.1_Splice_Site|MACF1_ENST00000317713.7_Splice_Site			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	NA					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAATAAAAAGGTGAGTGACAAT	0.396		NA											False	0	True	1:39888208	0
RLF	6018	broad.mit.edu	37	1	40704145	40704146	+	Frame_Shift_Ins	INS	-	-	ATGTTTATTTTTATAAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:40704145_40704146insATGTTTATTTTTATAAT	ENST00000372771.4	+	8	3798_3799	c.3771_3772insATGTTTATTTTTATAAT	c.(3772-3774)gaafs	p.E1258fs		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1258					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	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;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AAACAGATTTGGAATCATCTTG	0.411		NA											False	0	False	1:40704145	0
CCDC30	728621	broad.mit.edu	37	1	43047133	43047134	+	In_Frame_Ins	INS	-	-	ACATAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:43047133_43047134insACATAG	ENST00000340612.4	+	7	1168_1169	c.1168_1169insACATAG	c.(1168-1170)aca>aACATAGca	p.390_390T>NIA	CCDC30_ENST00000342022.4_In_Frame_Ins_p.390_390T>NIA|CCDC30_ENST00000390640.4_In_Frame_Ins_p.179_179T>NIA|CCDC30_ENST00000428554.2_In_Frame_Ins_p.390_390T>NIA|CCDC30_ENST00000507855.1_In_Frame_Ins_p.179_179T>NIA			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	390										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AAAAGAAGCAACACAAAATGAA	0.406		NA											False	0	False	1:43047133	0
SRFBP1	153443	broad.mit.edu	37	5	121356395	121356396	+	Frame_Shift_Ins	INS	-	-	CTTTCTTCTGTGCTATCATCAAAATATTCCT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:121356395_121356396insCTTTCTTCTGTGCTATCATCAAAATATTCCT	ENST00000339397.4	+	6	1037_1038	c.965_966insCTTTCTTCTGTGCTATCATCAAAATATTCCT	c.(964-969)actcatfs	p.H323fs	SRFBP1_ENST00000504881.1_3'UTR	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		ACAGGTGAAACTCATGGGGATA	0.356		NA											False	0	False	5:121356395	0
NRG2	9542	broad.mit.edu	37	5	139267073	139267074	+	In_Frame_Ins	INS	-	-	ACTCCC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:139267073_139267074insACTCCC	ENST00000361474.1	-	2	947_948	c.723_724insGGGAGT	c.(721-726)aagatg>aagGGGAGTatg	p.241_242KM>KGSM	NRG2_ENST00000289409.4_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000541337.1_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000358522.3_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000394770.1_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000545385.1_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000289422.7_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000340391.3_In_Frame_Ins_p.38_39KM>KGSM	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	241	Ig-like C2-type.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCTCTTCATCTTCTTCAACT	0.579		NA											False	0	False	5:139267073	0
PCDHA1	0	broad.mit.edu	37	5	140167392	140167393	+	In_Frame_Ins	INS	-	-	CAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:140167392_140167393insCAC	ENST00000504120.2	+	1	1517_1518	c.1517_1518insCAC	c.(1516-1521)aactac>aaCACctac	p.506_507NY>NTY	PCDHA1_ENST00000378133.3_In_Frame_Ins_p.506_507NY>NTY|PCDHA1_ENST00000394633.3_In_Frame_Ins_p.506_507NY>NTY	NM_018900.2	NP_061723.1				NA										breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCTGTCGAACTACGTGTCAG	0.673		NA											False	0	False	5:140167392	0
ERVFRD-1	0	broad.mit.edu	37	6	11105171	11105172	+	Frame_Shift_Ins	INS	-	-	ATTACTTTTCCTC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:11105171_11105172insATTACTTTTCCTC	ENST00000472091.1	-	2	747_748	c.372_373insGAGGAAAAGTAAT	c.(370-375)cctattfs	p.I125fs	SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Frame_Shift_Ins_p.I125fs	NM_207582.2	NP_997465.1	P60508	EFRD1_HUMAN		125						integral to membrane|plasma membrane|virion				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						ATAACACAAATAGGGGCTATTC	0.391		NA											False	0	True	6:11105171	0
SLC17A1	6568	broad.mit.edu	37	6	25826860	25826861	+	Splice_Site	INS	-	-	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:25826860_25826861insT	ENST00000244527.4	-	3	150_151	c.35_36insA	c.(34-36)gtt>gtAt	p.V12fs	SLC17A1_ENST00000476801.1_Splice_Site_p.V12fs|SLC17A1_ENST00000427328.1_Splice_Site_p.V12fs|SLC17A1_ENST00000468082.1_Splice_Site_p.V12fs	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	12					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AGAAACCTGGAACTACAAAGTA	0.401		NA											False	0	False	6:25826860	0
HMGN4	10473	broad.mit.edu	37	6	26545481	26545482	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:26545481_26545482insTT	ENST00000377575.2	+	2	224_225	c.47_48insTT	c.(46-51)aaggtgfs	p.KV16fs		NM_006353.2	NP_006344.1	O00479	HMGN4_HUMAN	high mobility group nucleosomal binding domain 4	16						chromatin|nucleus	DNA binding			lung(2)|skin(1)	3						GATAAAGCAAAGGTGAAGGATG	0.525		NA											False	0	True	6:26545481	0
HMGN4	10473	broad.mit.edu	37	6	26545482	26545483	+	Frame_Shift_Ins	INS	-	-	ACTATATT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:26545482_26545483insACTATATT	ENST00000377575.2	+	2	225_226	c.48_49insACTATATT	c.(49-51)gtgfs	p.V17fs		NM_006353.2	NP_006344.1	O00479	HMGN4_HUMAN	high mobility group nucleosomal binding domain 4	17						chromatin|nucleus	DNA binding	p.V17L(1)		lung(2)|skin(1)	3						ATAAAGCAAAGGTGAAGGATGA	0.52		NA											False	0	False	6:26545482	0
ZNF165	7718	broad.mit.edu	37	6	28056518	28056519	+	In_Frame_Ins	INS	-	-	ATATTACCT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:28056518_28056519insATATTACCT	ENST00000377325.1	+	4	1284_1285	c.728_729insATATTACCT	c.(727-732)gagtct>gaATATTACCTgtct	p.243_244ES>EYYLS		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	243					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAATCAGGGGAGTCTCAGAGAC	0.446		NA											False	0	False	6:28056518	0
PGBD1	84547	broad.mit.edu	37	6	28265720	28265721	+	Frame_Shift_Ins	INS	-	-	AAATCATA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:28265720_28265721insAAATCATA	ENST00000405948.2	+	6	1241_1242	c.821_822insAAATCATA	c.(820-825)acttctfs	p.S275fs	PGBD1_ENST00000259883.3_Frame_Shift_Ins_p.S275fs	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	275					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAGCAAGAAACTTCTGAAGAAA	0.337		NA											False	0	False	6:28265720	0
ZKSCAN3	80317	broad.mit.edu	37	6	28333528	28333529	+	Frame_Shift_Ins	INS	-	-	CTTCTGC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:28333528_28333529insCTTCTGC	ENST00000377255.3	+	7	1380_1381	c.1083_1084insCTTCTGC	c.(1084-1086)agafs	p.R362fs	ZKSCAN3_ENST00000252211.2_Frame_Shift_Ins_p.R362fs|ZKSCAN3_ENST00000341464.5_Frame_Shift_Ins_p.R214fs	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	362					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TCATTCATCAGAGAGTCCACAC	0.49		NA											False	0	True	6:28333528	0
MDC1	9656	broad.mit.edu	37	6	30673587	30673588	+	In_Frame_Ins	INS	-	-	TTACTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:30673587_30673588insTTACTA	ENST00000376406.3	-	10	4019_4020	c.3372_3373insTAGTAA	c.(3370-3375)gcccct>gccTAGTAAcct	p.1124_1125AP>A**P	MDC1_ENST00000376405.2_In_Frame_Ins_p.860_861AP>A**P|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1124	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGGGGCTCAGGGGCAGCAGAGG	0.574		NA						Other conserved DNA damage response genes					False	0	True	6:30673587	0
LSM2	57819	broad.mit.edu	37	6	31765634	31765635	+	Frame_Shift_Ins	INS	-	-	AATACTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:31765634_31765635insAATACTT	ENST00000375661.5	-	5	413_414	c.187_188insAAGTATT	c.(187-189)cggfs	p.R63fs	LSM2_ENST00000491421.1_5'UTR	NM_021177.4	NP_067000.1	Q9Y333	LSM2_HUMAN	LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)	63					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytosol|nucleoplasm	U6 snRNA binding			large_intestine(1)|lung(1)	2						CACTGAGCCCCGAATGAAGCAG	0.505		NA											False	0	True	6:31765634	0
RING1	6015	broad.mit.edu	37	6	33179685	33179686	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	GT	GT	-	-	GT	GT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:33179685_33179686delGT	ENST00000374656.4	+	6	1233_1234	c.1025_1026delGT	c.(1024-1026)ggtfs	p.G342fs	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	342	Gly-rich.|Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GCCGGAGGAGGTGACGGTCCTG	0.668		NA											False	1	False	6:33179685	0
CUTA	51596	broad.mit.edu	37	6	33384521	33384522	+	Frame_Shift_Ins	INS	-	-	ATTTG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:33384521_33384522insATTTG	ENST00000374500.5	-	6	633_634	c.502_503insCAAAT	c.(502-504)attfs	p.I168fs	CUTA_ENST00000440279.3_Frame_Shift_Ins_p.I126fs|CUTA_ENST00000374496.3_Frame_Shift_Ins_p.I126fs|CUTA_ENST00000488478.1_Frame_Shift_Ins_p.-132fs|CUTA_ENST00000488034.1_Frame_Shift_Ins_p.I149fs|CUTA_ENST00000494751.1_Intron|CUTA_ENST00000607266.1_Frame_Shift_Ins_p.I126fs	NM_001014433.2	NP_001014433.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	149					protein localization|response to metal ion	membrane	enzyme binding		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						AGGCAATGCAATTACCTCGGCC	0.52		NA											False	0	True	6:33384521	0
CUL9	23113	broad.mit.edu	37	6	43153325	43153326	+	Frame_Shift_Ins	INS	-	-	AGATTCTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:43153325_43153326insAGATTCTA	ENST00000372647.2	+	3	801_802	c.727_728insAGATTCTA	c.(727-729)tttfs	p.F243fs	CUL9_ENST00000354495.3_Frame_Shift_Ins_p.F243fs|CUL9_ENST00000252050.4_Frame_Shift_Ins_p.F243fs			Q8IWT3	CUL9_HUMAN	cullin 9	243					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTGCATGGCCTTTGAGGGCATT	0.475		NA											False	0	True	6:43153325	0
CDC5L	988	broad.mit.edu	37	6	44371659	44371660	+	Frame_Shift_Ins	INS	-	-	TCATATGCCATGTGACAGGGATAAATTATCCCATACAGTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:44371659_44371660insTCATATGCCATGTGACAGGGATAAATTATCCCATACAGTT	ENST00000371477.3	+	6	952_953	c.653_654insTCATATGCCATGTGACAGGGATAAATTATCCCATACAGTT	c.(652-657)aaaaagfs	p.K218fs		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	218					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCATTTGAAAAAAAGCCTGCCC	0.391		NA											False	0	True	6:44371659	0
MYO6	4646	broad.mit.edu	37	6	76527372	76527373	+	In_Frame_Ins	INS	-	-	TTTTGAAATATATATAAAACAAAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:76527372_76527373insTTTTGAAATATATATAAAACAAAT	ENST00000369985.4	+	2	370_371	c.108_109insTTTTGAAATATATATAAAACAAAT	c.(109-111)aaa>TTTTGAAATATATATAAAACAAATaaa	p.36_37insF*NIYKTN	MYO6_ENST00000369977.3_In_Frame_Ins_p.36_37insF*NIYKTN|MYO6_ENST00000369975.1_In_Frame_Ins_p.36_37insF*NIYKTN|MYO6_ENST00000369981.3_In_Frame_Ins_p.36_37insF*NIYKTN			Q9UM54	MYO6_HUMAN	myosin VI	36	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CCTTGAATCAGAAAGGCAAGGT	0.406		NA											False	0	True	6:76527372	0
DIO1	1733	broad.mit.edu	37	1	54370453	54370454	+	Frame_Shift_Ins	INS	-	-	ACAAGCAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:54370453_54370454insACAAGCAC	ENST00000361921.3	+	2	476_477	c.452_453insACAAGCAC	c.(451-456)gtcattfs	p.I152fs	DIO1_ENST00000524406.1_Frame_Shift_Ins_p.I23fs|DIO1_ENST00000388876.3_Intron|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000322679.6_Frame_Shift_Ins_p.I152fs|DIO1_ENST00000532493.1_Intron|DIO1_ENST00000525202.1_Frame_Shift_Ins_p.I88fs	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	152					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GATTTTCTTGTCATTTACATTG	0.411		NA											False	0	False	1:54370453	0
OMA1	115209	broad.mit.edu	37	1	58999992	58999993	+	In_Frame_Ins	INS	-	-	TTATTG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:58999992_58999993insTTATTG	ENST00000371226.3	-	4	853_854	c.740_741insCAATAA	c.(739-741)gaa>gaCAATAAa	p.247_247E>DNK	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_5'UTR|OMA1_ENST00000358603.2_In_Frame_Ins_p.247_247E>DNK	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	247					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					CATTTTTAAATTCTTCCATCCA	0.327		NA											False	0	False	1:58999992	0
OMA1	115209	broad.mit.edu	37	1	58999994	58999995	+	Frame_Shift_Ins	INS	-	-	CTTATTTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:58999994_58999995insCTTATTTT	ENST00000371226.3	-	4	851_852	c.738_739insAAAATAAG	c.(736-741)gaagaafs	p.E247fs	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_5'UTR|OMA1_ENST00000358603.2_Frame_Shift_Ins_p.E247fs	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	247					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	p.E247*(1)		NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTTTTAAATTCTTCCATCCACT	0.322		NA											False	0	True	1:58999994	0
RPS12	6206	broad.mit.edu	37	6	133136193	133136194	+	In_Frame_Ins	INS	-	-	TCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:133136193_133136194insTCA	ENST00000230050.3	+	3	307_308	c.97_98insTCA	c.(97-99)cgt>cTCAgt	p.33_33R>LS		NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	33					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		TGGCCTAGCACGTGGAATTCGC	0.485		NA											False	0	False	6:133136193	0
HIVEP2	3097	broad.mit.edu	37	6	143081315	143081316	+	Frame_Shift_Ins	INS	-	-	AAAGAGATGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:143081315_143081316insAAAGAGATGT	ENST00000367604.1	-	8	6748_6749	c.6109_6110insACATCTCTTT	c.(6109-6111)aggfs	p.R2037fs	HIVEP2_ENST00000367603.2_Frame_Shift_Ins_p.R2037fs|HIVEP2_ENST00000012134.2_Frame_Shift_Ins_p.R2037fs			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2037					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGAGAAGTCCCTGGGAGAGGAG	0.47		NA											False	0	True	6:143081315	0
RMND1	55005	broad.mit.edu	37	6	151766776	151766777	+	Frame_Shift_Ins	INS	-	-	GGGTTCTAAATGG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:151766776_151766777insGGGTTCTAAATGG	ENST00000367303.4	-	2	292_293	c.170_171insCCATTTAGAACCC	c.(169-171)aaafs	p.K57fs	RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	57										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		CACTAGCTGTTTTATCAGGAAG	0.386		NA											False	0	True	6:151766776	0
KIAA1324L	222223	broad.mit.edu	37	7	86556230	86556231	+	Frame_Shift_Ins	INS	-	-	CCTCCTGGAACATTTTCAGATGGAACCAAAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:86556230_86556231insCCTCCTGGAACATTTTCAGATGGAACCAAAG	ENST00000416314.1	-	8	785_786	c.590_591insCTTTGGTTCCATCTGAAAATGTTCCAGGAGG	c.(589-591)acafs	p.-197fs	KIAA1324L_ENST00000297222.6_Frame_Shift_Ins_p.-124fs|KIAA1324L_ENST00000450689.2_Frame_Shift_Ins_p.-364fs|KIAA1324L_ENST00000444627.1_Frame_Shift_Ins_p.-364fs	NM_152748.3	NP_689961.3	A8MWY0	K132L_HUMAN	KIAA1324-like	NA						integral to membrane		p.T124T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ACATTATCTGTGTCTACaaaaa	0.376		NA											False	0	False	7:86556230	0
RUNDC3B	154661	broad.mit.edu	37	7	87436829	87436830	+	In_Frame_Ins	INS	-	-	CAGAGGAACCTAATGGTATCAATT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:87436829_87436830insCAGAGGAACCTAATGGTATCAATT	ENST00000338056.3	+	10	1560_1561	c.1149_1150insCAGAGGAACCTAATGGTATCAATT	c.(1150-1152)tat>CAGAGGAACCTAATGGTATCAATTtat	p.383_384insQRNLMVSI	RUNDC3B_ENST00000394654.3_In_Frame_Ins_p.366_367insQRNLMVSI|RUNDC3B_ENST00000493037.1_Intron	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	383										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					ATAAACAGTGGTATGAGTAAGT	0.381		NA											False	0	False	7:87436829	0
C7orf63	79846	broad.mit.edu	37	7	89912365	89912366	+	In_Frame_Ins	INS	-	-	ATATCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:89912365_89912366insATATCA	ENST00000389297.4	+	13	1783_1784	c.1532_1533insATATCA	c.(1531-1536)atgata>atATATCAgata	p.511_511M>IYQ	C7orf63_ENST00000316089.8_In_Frame_Ins_p.511_511M>IYQ|C7orf63_ENST00000497910.1_In_Frame_Ins_p.493_493M>IYQ	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	511							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ATTCAGCAAATGATAGGTAAAA	0.332		NA											False	0	False	7:89912365	0
YWHAG	7532	broad.mit.edu	37	7	75959197	75959198	+	Frame_Shift_Ins	INS	-	-	TACAAGG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:75959197_75959198insTACAAGG	ENST00000307630.3	-	2	662_663	c.440_441insCCTTGTA	c.(439-441)gtgfs	p.V147fs		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	147					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CGGAGGACTCCACCACCGTCGC	0.574		NA											False	0	False	7:75959197	0
RAVER2	55225	broad.mit.edu	37	1	65243760	65243761	+	Frame_Shift_Ins	INS	-	-	TCCATAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:65243760_65243761insTCCATAG	ENST00000371072.4	+	3	849_850	c.771_772insTCCATAG	c.(772-774)cctfs	p.P258fs	RAVER2_ENST00000430964.2_5'UTR|RAVER2_ENST00000294428.3_Frame_Shift_Ins_p.P258fs	NM_018211.3	NP_060681.2	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	258	RRM 3.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GTGTCCATAAACCTGTGTTTTG	0.322		NA											False	0	True	1:65243760	0
SLC44A5	204962	broad.mit.edu	37	1	75684247	75684248	+	In_Frame_Ins	INS	-	-	TCAAGTGGC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:75684247_75684248insTCAAGTGGC	ENST00000370855.5	-	17	1569_1570	c.1456_1457insGCCACTTGA	c.(1456-1458)tat>tGCCACTTGAat	p.486_486Y>CHLN	SLC44A5_ENST00000535611.1_In_Frame_Ins_p.356_356Y>CHLN|SLC44A5_ENST00000370859.3_In_Frame_Ins_p.486_486Y>CHLN	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	486						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GGCCCAGTAATAAGTAGCGAAT	0.431		NA											False	0	False	1:75684247	0
WEE2	494551	broad.mit.edu	37	7	141408664	141408665	+	In_Frame_Ins	INS	-	-	AGAAAATAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:141408664_141408665insAGAAAATAA	ENST00000397541.2	+	1	512_513	c.106_107insAGAAAATAA	c.(106-108)gct>gAGAAAATAAct	p.36_36A>EKIT	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	36					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AAGCAGGGAGGCTTCGAGCCAA	0.465		NA											False	0	False	7:141408664	0
CTSB	1508	broad.mit.edu	37	8	11705590	11705591	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:11705590_11705591insA	ENST00000353047.6	-	6	770_771	c.517_518insT	c.(517-519)tatfs	p.Y173fs	CTSB_ENST00000531089.1_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000453527.2_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000534510.1_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000530640.2_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000434271.1_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000533455.1_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000345125.3_Frame_Shift_Ins_p.Y173fs	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	173					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		ATGGGATTCATAGAGGCCACCA	0.45		NA											False	1	False	8:11705590	0
NEFL	4747	broad.mit.edu	37	8	24811789	24811790	+	RNA	INS	-	-	TTTGAAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:24811789_24811790insTTTGAAA	ENST00000221169.5	-	0	1668_1669							P07196	NFL_HUMAN	neurofilament, light polypeptide	NA					anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TTTGTGGTCCTCAATTCATTTT	0.351		NA											False	0	False	8:24811789	0
ADAM32	203102	broad.mit.edu	37	8	39068803	39068804	+	Frame_Shift_Ins	INS	-	-	TATACTTCTGGAAACACATTTCTATATGATATAAATTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:39068803_39068804insTATACTTCTGGAAACACATTTCTATATGATATAAATTA	ENST00000379907.4	+	12	1320_1321	c.1193_1194insTATACTTCTGGAAACACATTTCTATATGATATAAATTA	c.(1192-1197)agattgfs	p.RL398fs	ADAM32_ENST00000519315.1_Intron|ADAM32_ENST00000437682.2_Intron	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	398	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GGCAATGGCAGATTGGAGGGAA	0.327		NA											False	0	False	8:39068803	0
ADAM18	8749	broad.mit.edu	37	8	39525716	39525717	+	Splice_Site	INS	-	-	AAAAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:39525716_39525717insAAAAA	ENST00000265707.5	+	14	1570		c.e14+1		ADAM18_ENST00000541111.1_Splice_Site|ADAM18_ENST00000379866.1_Splice_Site	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	NA					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTGGAAAAGGTATTGCTCTTT	0.381		NA											False	0	False	8:39525716	0
ADAM18	8749	broad.mit.edu	37	8	39525717	39525718	+	Splice_Site	INS	-	-	AAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:39525717_39525718insAAA	ENST00000265707.5	+	14	1570		c.e14+2		ADAM18_ENST00000541111.1_Splice_Site|ADAM18_ENST00000379866.1_Splice_Site	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	NA					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTGGAAAAGGTATTGCTCTTTC	0.381		NA											False	1	False	8:39525717	0
UBXN2B	137886	broad.mit.edu	37	8	59345800	59345801	+	In_Frame_Ins	INS	-	-	TGAGTTAAAATTCACAAAGGATTATTCAGCAAAAAGTTATTATGTGAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:59345800_59345801insTGAGTTAAAATTCACAAAGGATTATTCAGCAAAAAGTTATTATGTGAT	ENST00000399598.2	+	4	543_544	c.421_422insTGAGTTAAAATTCACAAAGGATTATTCAGCAAAAAGTTATTATGTGAT	c.(421-423)gat>gTGAGTTAAAATTCACAAAGGATTATTCAGCAAAAAGTTATTATGTGATat	p.141_141D>VS*NSQRIIQQKVIM*Y	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	141	SEP.					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						TCAGCTGCAAGATGTAGGTACA	0.282		NA											False	0	False	8:59345800	0
CYP7B1	9420	broad.mit.edu	37	8	65517413	65517414	+	Splice_Site	INS	-	-	CTTAGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:65517413_65517414insCTTAGA	ENST00000310193.3	-	5	1231_1232	c.1058_1059insTCTAAG	c.(1057-1059)gaa>gaTCTAAGa	p.353_353E>DLR	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	353					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AAATGCTGCTTTCTGAAGGAAA	0.396		NA											False	0	True	8:65517413	0
CYP7B1	9420	broad.mit.edu	37	8	65517415	65517416	+	Splice_Site	INS	-	-	CTG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:65517415_65517416insCTG	ENST00000310193.3	-	5	1231		c.e5-1		CYP7B1_ENST00000523954.1_Splice_Site	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	NA					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				ATGCTGCTTTCTGAAGGAAAAA	0.396		NA											False	0	False	8:65517415	0
RAD54B	25788	broad.mit.edu	37	8	95384604	95384605	+	Translation_Start_Site	INS	-	-	TGGAGATCATTTAAATCTTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:95384604_95384605insTGGAGATCATTTAAATCTTA	ENST00000519348.1	-	0	89_90				RAD54B_ENST00000336148.5_Frame_Shift_Ins_p.E843fs			O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	NA					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ATGAATTTTTCCAACGAATCAC	0.351		NA						Direct reversal of damage;Homologous recombination					False	0	False	8:95384604	0
PABPC1	26986	broad.mit.edu	37	8	101719224	101719225	+	Splice_Site	INS	-	-	GGATGAGGTCTGGCACCCTGAGCAGTCCAGCGAGGACTTGGTCTTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:101719224_101719225insGGATGAGGTCTGGCACCCTGAGCAGTCCAGCGAGGACTTGGTCTTA	ENST00000318607.5	-	10	2465_2466	c.1337_1338insTAAGACCAAGTCCTCGCTGGACTGCTCAGGGTGCCAGACCTCATCC	c.(1336-1338)cca>ccTAAGACCAAGTCCTCGCTGGACTGCTCAGGGTGCCAGACCTCATCCa	p.-446fs	PABPC1_ENST00000522387.1_Splice_Site_p.-414fs|PABPC1_ENST00000519004.1_Splice_Site_p.-401fs|PABPC1_ENST00000519596.1_Intron	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	NA					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TATTTTGGAATGCTGCATTTTA	0.416		NA											False	0	False	8:101719224	0
MTBP	27085	broad.mit.edu	37	8	121500556	121500557	+	Frame_Shift_Ins	INS	-	-	ATTATCTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:121500556_121500557insATTATCTT	ENST00000305949.1	+	12	1368_1369	c.1323_1324insATTATCTT	c.(1324-1326)gaafs	p.E442fs		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	442					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAACAAAGACAGAAGAAGCCAA	0.351		NA											False	0	False	8:121500556	0
MTBP	27085	broad.mit.edu	37	8	121500557	121500558	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:121500557_121500558insTT	ENST00000305949.1	+	12	1369_1370	c.1324_1325insTT	c.(1324-1326)gaafs	p.E442fs		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	442					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AACAAAGACAGAAGAAGCCAAA	0.351		NA											False	0	False	8:121500557	0
ZC3H3	23144	broad.mit.edu	37	8	144620857	144620858	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:144620857_144620858insCC	ENST00000262577.5	-	2	710_711	c.679_680insGG	c.(679-681)aagfs	p.K227fs		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	227					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GAAGCTCGCCTTGACGGCAATC	0.658		NA											False	0	False	8:144620857	0
ZC3H3	23144	broad.mit.edu	37	8	144620858	144620859	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:144620858_144620859insC	ENST00000262577.5	-	2	709_710	c.678_679insG	c.(676-681)gtcaagfs	p.K227fs		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	227					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			AAGCTCGCCTTGACGGCAATCA	0.658		NA											False	0	False	8:144620858	0
PARP10	84875	broad.mit.edu	37	8	145059772	145059798	+	In_Frame_Del	DEL	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	-	rs146902781	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	-	-	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:145059772_145059798delCCTCCAGGCCCAGATTCTGGGCCTGCT	ENST00000524918.1	-	4	541_567	c.455_481delAGCAGGCCCAGAATCTGGGCCTGGAGG	c.(454-483)gagcaggcccagaatctgggcctggagggg>ggg	p.EQAQNLGLE152del	PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_In_Frame_Del_p.EQAQNLGLE164del|PARP10_ENST00000313028.7_In_Frame_Del_p.EQAQNLGLE152del			Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	152						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCAAGGTCCCCTCCAGGCCCAGATTCTGGGCCTGCTCCTCCAGGAC	0.648		NA											False	1	False	8:145059772	0
DNASE2B	58511	broad.mit.edu	37	1	84876638	84876639	+	Frame_Shift_Ins	INS	-	-	ATAAATCAGAAAAACAAAGCTTCTTTTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:84876638_84876639insATAAATCAGAAAAACAAAGCTTCTTTTA	ENST00000370665.3	+	4	536_537	c.503_504insATAAATCAGAAAAACAAAGCTTCTTTTA	c.(502-507)agtggcfs	p.SG168fs	DNASE2B_ENST00000370662.3_5'UTR	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	168					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		AATGGACAAAGTGGCATCTGCA	0.401		NA											False	0	False	1:84876638	0
SSX2IP	117178	broad.mit.edu	37	1	85116188	85116189	+	Frame_Shift_Ins	INS	-	-	GCTAAGGG	rs139023868	by1000genomes	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:85116188_85116189insGCTAAGGG	ENST00000437941.2	-	12	1797_1798	c.1445_1446insCCCTTAGC	c.(1444-1446)atafs	p.-482fs	SSX2IP_ENST00000370612.4_Frame_Shift_Ins_p.-509fs|SSX2IP_ENST00000603677.1_Frame_Shift_Ins_p.-28fs|SSX2IP_ENST00000605755.1_Frame_Shift_Ins_p.-482fs|SSX2IP_ENST00000342203.3_Frame_Shift_Ins_p.-509fs	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	NA					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCGAGTGCACTATAAGATTGTC	0.411		NA											False	0	False	1:85116188	0
RPAP2	79871	broad.mit.edu	37	1	92846390	92846391	+	Frame_Shift_Ins	INS	-	-	TGATAAGGGCAAAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:92846390_92846391insTGATAAGGGCAAAG	ENST00000370343.3	+	12	1907_1908	c.1798_1799insTGATAAGGGCAAAG	c.(1798-1800)agtfs	p.S600fs		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	600						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGACCTTGAAAGTCTAACCATC	0.351		NA											False	0	True	1:92846390	0
KIAA2026	158358	broad.mit.edu	37	9	5920807	5920807	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:5920807delA	ENST00000399933.3	-	8	5188	c.5189delT	c.(5188-5190)gtafs	p.V1731fs	KIAA2026_ENST00000381461.2_Frame_Shift_Del_p.V1701fs	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1731										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AGGAGACACTACTGGTTGTGT	0.403		NA											False	1	False	9:5920807	0
KIAA2026	158358	broad.mit.edu	37	9	5922066	5922067	+	Frame_Shift_Ins	INS	-	-	TACATTAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:5922066_5922067insTACATTAG	ENST00000399933.3	-	8	3928_3929	c.3929_3930insCTAATGTA	c.(3928-3930)tcafs	p.-1310fs	KIAA2026_ENST00000381461.2_Frame_Shift_Ins_p.-1280fs	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	NA										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AAGTGAAAACTGAACTTGAAGA	0.421		NA											False	0	False	9:5922066	0
NFIB	4781	broad.mit.edu	37	9	14120540	14120541	+	Frame_Shift_Ins	INS	-	-	TAAGATTAGCACCTAAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:14120540_14120541insTAAGATTAGCACCTAAG	ENST00000380959.3	-	8	1616_1617	c.1143_1144insCTTAGGTGCTAATCTTA	c.(1141-1146)tactttfs	p.F382fs	NFIB_ENST00000397581.2_Frame_Shift_Ins_p.F382fs|NFIB_ENST00000380924.1_Frame_Shift_Ins_p.F130fs|NFIB_ENST00000397575.3_Frame_Shift_Ins_p.F382fs|NFIB_ENST00000543693.1_Frame_Shift_Ins_p.F130fs|NFIB_ENST00000380934.4_Frame_Shift_Ins_p.F408fs|NFIB_ENST00000380953.1_Frame_Shift_Ins_p.F382fs|NFIB_ENST00000397579.2_Frame_Shift_Ins_p.F382fs	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	382					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GGATGAGAAAAGTAGCTCGATG	0.48		NA	T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								False	0	True	9:14120540	0
SLC24A2	25769	broad.mit.edu	37	9	19516348	19516349	+	In_Frame_Ins	INS	-	-	AGCATGAATGGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:19516348_19516349insAGCATGAATGGT	ENST00000341998.2	-	10	1849_1850	c.1788_1789insACCATTCATGCT	c.(1786-1791)gtggct>gtgACCATTCATGCTgct	p.596_597VA>VTIHAA	SLC24A2_ENST00000286344.3_In_Frame_Ins_p.579_580VA>VTIHAA	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	596					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTGCTGACAGCCACTGGCTGGA	0.55		NA											False	0	False	9:19516348	0
TLN1	7094	broad.mit.edu	37	9	35722212	35722213	+	Frame_Shift_Ins	INS	-	-	CCTAAGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:35722212_35722213insCCTAAGA	ENST00000314888.9	-	9	1204_1205	c.851_852insTCTTAGG	c.(850-852)aagfs	p.K284fs	TLN1_ENST00000540444.1_Frame_Shift_Ins_p.K284fs	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	284	FERM.|Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCCACAATTCTTGTGTGCCTG	0.45		NA											False	0	True	9:35722212	0
GBA2	57704	broad.mit.edu	37	9	35737876	35737877	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:35737876_35737877insTT	ENST00000378094.4	-	16	2886_2887	c.2373_2374insAA	c.(2371-2376)caggccfs	p.A792fs	GBA2_ENST00000545786.1_Frame_Shift_Ins_p.A798fs|GBA2_ENST00000378088.1_Frame_Shift_Ins_p.A93fs|GBA2_ENST00000378103.3_Frame_Shift_Ins_p.A792fs			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	792					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTGCAAAGGCCTGGACGTTCA	0.545		NA											False	0	False	9:35737876	0
IDNK	414328	broad.mit.edu	37	9	86258528	86258529	+	Frame_Shift_Ins	INS	-	-	TTTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:86258528_86258529insTTTA	ENST00000376419.4	+	5	401_402	c.397_398insTTTA	c.(397-399)ggafs	p.G133fs	IDNK_ENST00000454393.1_Frame_Shift_Ins_p.G176fs|IDNK_ENST00000277124.8_Frame_Shift_Ins_p.G87fs|IDNK_ENST00000405990.3_3'UTR|IDNK_ENST00000376417.4_3'UTR	NM_001001551.3	NP_001001551.2	Q5T6J7	GNTK_HUMAN	idnK, gluconokinase homolog (E. coli)	133					carbohydrate metabolic process	cytoplasm	ATP binding|gluconokinase activity|shikimate kinase activity				NA						GGTCATCTCTGGACGCTTACTC	0.515		NA											False	0	False	9:86258528	0
TSTD2	158427	broad.mit.edu	37	9	100388179	100388180	+	Frame_Shift_Ins	INS	-	-	AACCCTGATGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:100388179_100388180insAACCCTGATGA	ENST00000341170.4	-	3	647_648	c.265_266insTCATCAGGGTT	c.(265-267)caafs	p.Q89fs	TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000375165.1_5'UTR|TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	89										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GATGCTGGTTTGGTCTGTGAAT	0.406		NA											False	0	True	9:100388179	0
TMEFF1	8577	broad.mit.edu	37	9	103261138	103261139	+	Frame_Shift_Ins	INS	-	-	TATATATTTGGCTTTTTATTACGTG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:103261138_103261139insTATATATTTGGCTTTTTATTACGTG	ENST00000374879.4	+	2	720_721	c.288_289insTATATATTTGGCTTTTTATTACGTG	c.(289-291)tgtfs	p.C97fs	TMEFF1_ENST00000334943.6_Frame_Shift_Ins_p.C58fs|MSANTD3-TMEFF1_ENST00000502978.1_Frame_Shift_Ins_p.M60fs	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1	NA										NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				ATGGTTTGAAATGTGCATGCCA	0.327		NA											False	0	True	9:103261138	0
SMC2	10592	broad.mit.edu	37	9	106878586	106878587	+	In_Frame_Ins	INS	-	-	AATGCAAGTTTAGTAGTC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:106878586_106878587insAATGCAAGTTTAGTAGTC	ENST00000286398.7	+	14	2065_2066	c.1777_1778insAATGCAAGTTTAGTAGTC	c.(1777-1779)gtt>gAATGCAAGTTTAGTAGTCtt	p.593_593V>ECKFSSL	SMC2_ENST00000374793.3_In_Frame_Ins_p.593_593V>ECKFSSL|SMC2_ENST00000374787.3_In_Frame_Ins_p.593_593V>ECKFSSL|SMC2_ENST00000303219.8_In_Frame_Ins_p.593_593V>ECKFSSL	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	593	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						aactctgagagttgctcagaat	0.342		NA											False	0	False	9:106878586	0
ZNF483	158399	broad.mit.edu	37	9	114296606	114296607	+	In_Frame_Ins	INS	-	-	TTCTCC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:114296606_114296607insTTCTCC	ENST00000309235.5	+	5	852_853	c.694_695insTTCTCC	c.(694-696)gaa>gTTCTCCaa	p.232_232E>VLQ	ZNF483_ENST00000358151.4_In_Frame_Ins_p.232_232E>VLQ|ZNF483_ENST00000355824.3_In_Frame_Ins_p.232_232E>VLQ	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	232	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						ATGGCTGCTGGAAGAAGTCTCA	0.386		NA											False	0	False	9:114296606	0
ZNF483	158399	broad.mit.edu	37	9	114296608	114296609	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:114296608_114296609insG	ENST00000309235.5	+	5	854_855	c.696_697insG	c.(697-699)gaafs	p.E233fs	ZNF483_ENST00000358151.4_Frame_Shift_Ins_p.E233fs|ZNF483_ENST00000355824.3_Frame_Shift_Ins_p.E233fs	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	233	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GGCTGCTGGAAGAAGTCTCAAA	0.386		NA											False	1	False	9:114296608	0
BSPRY	54836	broad.mit.edu	37	9	116116618	116116619	+	Splice_Site	INS	-	-	ATTTTCTCCT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:116116618_116116619insATTTTCTCCT	ENST00000374183.4	+	2	339	c.300_300insATTTTCTCCT	c.(301-303)agc>agATTTTCTCCTc	p.S101fs	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	101					calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AAAGAGCAGTGGTAATTCCTCT	0.525		NA											False	0	False	9:116116618	0
ZBTB34	403341	broad.mit.edu	37	9	129642528	129642529	+	Frame_Shift_Ins	INS	-	-	CTCTATCTGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:129642528_129642529insCTCTATCTGA	ENST00000319119.4	+	2	935_936	c.850_851insCTCTATCTGA	c.(850-852)cagfs	p.Q284fs	ZBTB34_ENST00000373452.2_Frame_Shift_Ins_p.Q280fs	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						TTCTGTGCTCCAGCACGCATAC	0.53		NA											False	0	False	9:129642528	0
CIZ1	25792	broad.mit.edu	37	9	130948036	130948037	+	Frame_Shift_Ins	INS	-	-	AACCCTTC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:130948036_130948037insAACCCTTC	ENST00000393608.1	-	5	579_580	c.377_378insGAAGGGTT	c.(376-378)ggcfs	p.G126fs	CIZ1_ENST00000357558.5_Frame_Shift_Ins_p.G126fs|CIZ1_ENST00000325721.8_Frame_Shift_Ins_p.G102fs|CIZ1_ENST00000541172.1_Frame_Shift_Ins_p.G25fs|CIZ1_ENST00000538431.1_Frame_Shift_Ins_p.G126fs|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372954.1_Frame_Shift_Ins_p.G102fs|CIZ1_ENST00000277465.4_Frame_Shift_Ins_p.G126fs|CIZ1_ENST00000372948.3_Frame_Shift_Ins_p.G126fs|CIZ1_ENST00000372938.5_Frame_Shift_Ins_p.G126fs	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	126						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						GGGATGCCATGCCATAGCCTCG	0.609		NA											False	0	True	9:130948036	0
AKR1C3	8644	broad.mit.edu	37	10	5144829	5144830	+	Frame_Shift_Ins	INS	-	-	CATC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:5144829_5144830insCATC	ENST00000380554.3	+	7	1485_1486	c.833_834insCATC	c.(832-837)agacagfs	p.RQ278fs	AKR1C3_ENST00000439082.2_Frame_Shift_Ins_p.RQ159fs|AKR1C3_ENST00000605149.1_Frame_Shift_Ins_p.RQ255fs	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	278					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	CAGCGCATCAGACAGAACGTGC	0.599		NA											False	0	True	10:5144829	0
CUBN	8029	broad.mit.edu	37	10	17107592	17107593	+	Frame_Shift_Ins	INS	-	-	AGCTATA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:17107592_17107593insAGCTATA	ENST00000377833.4	-	22	3118_3119	c.3053_3054insTATAGCT	c.(3052-3054)aacfs	p.-1018fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	NA					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCATCAATGAGTTACCACTGCT	0.411		NA											False	0	False	10:17107592	0
CUBN	8029	broad.mit.edu	37	10	17107594	17107595	+	Frame_Shift_Ins	INS	-	-	TAGAATA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:17107594_17107595insTAGAATA	ENST00000377833.4	-	22	3116_3117	c.3051_3052insTATTCTA	c.(3049-3054)ggtaacfs	p.N1018fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1018	CUB 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATCAATGAGTTACCACTGCTTG	0.416		NA											False	0	False	10:17107594	0
RP11-85G18.6	0	broad.mit.edu	37	10	27536701	27536704	+	RNA	DEL	TAGA	TAGA	-	rs34638562		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	TAGA	TAGA	-	-	TAGA	TAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:27536701_27536704delTAGA	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA						NA											NA						TTCCTGTGGTTAGATAGTTTCTAA	0.407		NA											False	1	False	10:27536701	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0
OR10K2	391107	broad.mit.edu	37	1	158390039	158390039	+	Silent	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:158390039G>A	ENST00000314902.2	-	1	617	c.618C>T	c.(616-618)gtC>gtT	p.V206V		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GGATAGCCAGGACCAATGTAC	0.443		NA											False	0	False	1:158390039	0
IGSF1	3547	broad.mit.edu	37	X	130408064	130408064	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:130408064G>A	ENST00000370904.1	-	25	4751	c.3841C>T	c.(3841-3843)Cga>Tga	p.R1281*	IGSF1_ENST00000370910.1_Nonsense_Mutation_p.R1281*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.R1290*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.R1295*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1290					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TACCTGGTTCGCAGTCGAGGC	0.502		NA											False	0	False	X:130408064	0
SEMG2	6407	broad.mit.edu	37	20	43851593	43851593	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:43851593G>C	ENST00000372769.3	+	2	1410	c.1320G>C	c.(1318-1320)gaG>gaC	p.E440D		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	440	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AAACTGAAGAGAAAATACATG	0.383		NA											False	0	True	20:43851593	0
SACS	26278	broad.mit.edu	37	13	23906194	23906194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr13:23906194G>A	ENST00000382298.3	-	10	12409	c.11821C>T	c.(11821-11823)Caa>Taa	p.Q3941*	SACS_ENST00000402364.1_Nonsense_Mutation_p.Q3191*|SACS_ENST00000382292.3_Nonsense_Mutation_p.Q3941*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3941					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACTAACATTTGCACACCAATA	0.403		NA											False	0	True	13:23906194	0
TTC3	7267	broad.mit.edu	37	21	38572533	38572533	+	Splice_Site	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr21:38572533G>A	ENST00000399017.2	+	45	8598	c.5851G>A	c.(5851-5853)Gca>Aca	p.A1951T	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Splice_Site_p.A1951T|TTC3_ENST00000355666.1_Splice_Site_p.A1951T	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1951					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GTTTCCACAGGCACTGGGTGC	0.428		NA											False	0	False	21:38572533	0
FBN3	84467	broad.mit.edu	37	19	8130859	8130859	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:8130859G>A	ENST00000600128.1	-	64	8788	c.8374C>T	c.(8374-8376)Cag>Tag	p.Q2792*	FBN3_ENST00000601739.1_Nonsense_Mutation_p.Q2792*|FBN3_ENST00000270509.2_Nonsense_Mutation_p.Q2792*			Q75N90	FBN3_HUMAN	fibrillin 3	2792						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCCCTGGCTGCCCCTCTGGC	0.687		NA											False	0	True	19:8130859	0
KRT31	3881	broad.mit.edu	37	17	39551782	39551782	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:39551782T>C	ENST00000251645.2	-	4	734	c.682A>G	c.(682-684)Acc>Gcc	p.T228A		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	228	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGACTCCTGGTCTCGTTCAGC	0.597		NA											False	0	False	17:39551782	0
DGKB	1607	broad.mit.edu	37	7	14724956	14724956	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:14724956C>T	ENST00000403951.2	-	10	1162	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	DGKB_ENST00000406247.3_Missense_Mutation_p.R248Q|DGKB_ENST00000258767.5_Missense_Mutation_p.R248Q|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.R248Q|DGKB_ENST00000407950.1_Missense_Mutation_p.R241Q|DGKB_ENST00000444700.2_Missense_Mutation_p.R241Q|DGKB_ENST00000399322.3_Missense_Mutation_p.R248Q			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	248					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GTGCTTCAGTCGCCACACGTG	0.463		NA											False	0	False	7:14724956	0
GLI3	2737	broad.mit.edu	37	7	42004926	42004926	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:42004926A>C	ENST00000395925.3	-	15	3829	c.3745T>G	c.(3745-3747)Tgt>Ggt	p.C1249G	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1249					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGGCCTTACAGGGCTGTTCA	0.612		NA							Pallister-Hall syndrome;Greig Cephalopolysyndactyly				False	0	True	7:42004926	0
NRG1	3084	broad.mit.edu	37	8	32505402	32505402	+	Missense_Mutation	SNP	G	G	A	rs148668339		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:32505402G>A	ENST00000520502.2	+	1	166	c.166G>A	c.(166-168)Gtg>Atg	p.V56M	NRG1_ENST00000520407.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000405005.3_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287845.5_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	0	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GGGCCTGGCCGTGCCCTGCTG	0.602		NA											False	0	False	8:32505402	0
CLVS1	157807	broad.mit.edu	37	8	62212794	62212794	+	Silent	SNP	C	C	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:62212794C>T	ENST00000519846.1	+	3	880	c.408C>T	c.(406-408)taC>taT	p.Y136Y	RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Silent_p.Y136Y			Q8IUQ0	CLVS1_HUMAN	clavesin 1	136	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.Y136*(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGACCATTACGGCAGGAAGA	0.443		NA											False	0	False	8:62212794	0
DLGAP4	22839	broad.mit.edu	37	20	35060133	35060133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:35060133G>A	ENST00000373913.3	+	3	493	c.13G>A	c.(13-15)Ggt>Agt	p.G5S	DLGAP4_ENST00000339266.5_Missense_Mutation_p.G5S|DLGAP4_ENST00000373907.2_Missense_Mutation_p.G5S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G5S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	5					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GAAAGGCCTCGGTGACAGCCG	0.692		NA											False	0	False	20:35060133	0
TAF5L	27097	broad.mit.edu	37	1	229730411	229730411	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:229730411C>T	ENST00000258281.2	-	5	1568	c.1403G>A	c.(1402-1404)cGt>cAt	p.R468H	TAF5L_ENST00000366676.1_Missense_Mutation_p.R468H	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	468					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R468P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CACGGGGCCACGGTGGCCTGT	0.607		NA											False	0	False	1:229730411	0
TP53	7157	broad.mit.edu	37	17	7578206	7578206	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:7578206T>C	ENST00000420246.2	-	6	775	c.643A>G	c.(643-645)Agt>Ggt	p.S215G	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.S215G|TP53_ENST00000445888.2_Missense_Mutation_p.S215G|TP53_ENST00000269305.4_Missense_Mutation_p.S215G|TP53_ENST00000413465.2_Missense_Mutation_p.S215G|TP53_ENST00000455263.2_Missense_Mutation_p.S215G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	215	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.S215G(6)|p.?(5)|p.S215C(5)|p.H214fs*5(2)|p.S215R(2)|p.D208fs*1(1)|p.R213_S215>X(1)|p.S215fs*32(1)|p.R209fs*6(1)|p.T211fs*28(1)|p.S215fs*31(1)|p.D207_V216del10(1)|p.S215fs*27(1)|p.H214fs*7(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACCACCACACTATGTCGAAAA	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			False	0	False	17:7578206	0
SSMEM1	136263	broad.mit.edu	37	7	129856144	129856144	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:129856144G>T	ENST00000297819.3	+	3	620	c.569G>T	c.(568-570)aGt>aTt	p.S190I		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1	NA											NA						AATCTGGGAAGTTACCAAATG	0.507		NA											False	0	False	7:129856144	0
C5AR2	27202	broad.mit.edu	37	19	47844495	47844495	+	Missense_Mutation	SNP	C	C	T	rs149871591	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:47844495C>T	ENST00000595464.1	+	2	657	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	C5AR2_ENST00000600626.1_Missense_Mutation_p.R147W|C5AR2_ENST00000257267.2_Missense_Mutation_p.R147W	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2	NA											NA						TACGGTTCAGCGGGCGTGCGG	0.672		NA											False	0	True	19:47844495	0
DCHS1	8642	broad.mit.edu	37	11	6662161	6662161	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:6662161A>C	ENST00000299441.3	-	2	1095	c.684T>G	c.(682-684)taT>taG	p.Y228*		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	228	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACCACCATCATAGGCCTCCA	0.602		NA											False	0	False	11:6662161	0
PES1	23481	broad.mit.edu	37	22	30983324	30983324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:30983324C>T	ENST00000354694.7	-	4	423	c.317G>A	c.(316-318)cGt>cAt	p.R106H	PES1_ENST00000402281.1_5'UTR|PES1_ENST00000335214.6_Missense_Mutation_p.R106H|PES1_ENST00000405677.1_5'UTR|PES1_ENST00000402284.3_Missense_Mutation_p.R106H	NM_001243225.1|NM_014303.3	NP_001230154.1|NP_055118.1	O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	NA	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GTCCTTTAAACGCTCTACAGT	0.498		NA											False	0	True	22:30983324	0
RRAGC	64121	broad.mit.edu	37	1	39305328	39305328	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:39305328A>C	ENST00000373001.3	-	7	1273	c.1097T>G	c.(1096-1098)gTt>gGt	p.V366G	RRAGC_ENST00000474456.1_5'UTR	NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	366					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				CACCTCAAAAACCTCATGAAT	0.458		NA											False	0	True	1:39305328	0
MBOAT7	79143	broad.mit.edu	37	19	54691118	54691118	+	Silent	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:54691118G>A	ENST00000245615.1	-	4	738	c.258C>T	c.(256-258)ttC>ttT	p.F86F	MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000431666.2_Intron|MBOAT7_ENST00000338624.6_Intron|MBOAT7_ENST00000391754.1_Silent_p.F86F	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	86					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGAGGGCTCGGAAGAACAGGA	0.642		NA											False	0	False	19:54691118	0
GLI3	2737	broad.mit.edu	37	7	42004927	42004927	+	Silent	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:42004927G>A	ENST00000395925.3	-	15	3828	c.3744C>T	c.(3742-3744)ccC>ccT	p.P1248P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1248					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGCCTTACAGGGCTGTTCAT	0.617		NA							Pallister-Hall syndrome;Greig Cephalopolysyndactyly				False	0	True	7:42004927	0
FLG	2312	broad.mit.edu	37	1	152277769	152277769	+	Missense_Mutation	SNP	A	A	C	rs143183339		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:152277769A>C	ENST00000368799.1	-	3	9628	c.9593T>G	c.(9592-9594)gTc>gGc	p.V3198G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3198	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCCCTGGACTGCCTGTGA	0.552		NA							Ichthyosis				False	0	False	1:152277769	0
FOXJ2	55810	broad.mit.edu	37	12	8205432	8205432	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:8205432G>C	ENST00000162391.3	+	11	2856	c.1711G>C	c.(1711-1713)Gac>Cac	p.D571H	FOXJ2_ENST00000539192.1_3'UTR	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	571					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CTTCGACTGGGACTTGATCAC	0.552		NA											False	0	True	12:8205432	0
TFB2M	64216	broad.mit.edu	37	1	246704361	246704361	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:246704361A>T	ENST00000366514.4	-	8	1348	c.1163T>A	c.(1162-1164)cTg>cAg	p.L388Q		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	388					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TTCATCATACAGCCATTTATA	0.373		NA											False	0	False	1:246704361	0
UNC13A	23025	broad.mit.edu	37	19	17760372	17760372	+	Silent	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:17760372G>A	ENST00000428389.2	-	14	1727	c.1728C>T	c.(1726-1728)atC>atT	p.I576I	UNC13A_ENST00000550896.1_Silent_p.I488I|UNC13A_ENST00000551649.1_Silent_p.I488I|UNC13A_ENST00000519716.2_Silent_p.I488I|UNC13A_ENST00000252773.7_Silent_p.I488I|UNC13A_ENST00000552293.1_Silent_p.I488I			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	488					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.I488I(1)|p.I576I(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCATGCTGTCGATGATGATGA	0.567		NA											False	0	True	19:17760372	0
FAM179B	23116	broad.mit.edu	37	14	45473306	45473306	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:45473306T>C	ENST00000361462.2	+	4	2564	c.2381T>C	c.(2380-2382)tTt>tCt	p.F794S	FAM179B_ENST00000382233.2_Missense_Mutation_p.F794S|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361577.3_Missense_Mutation_p.F794S			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	794							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CAGCAAACATTTGGTAGTCAA	0.363		NA											False	0	True	14:45473306	0
VAC14	55697	broad.mit.edu	37	16	70726807	70726807	+	Silent	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:70726807G>A	ENST00000261776.5	-	18	2363	c.2103C>T	c.(2101-2103)ctC>ctT	p.L701L	VAC14_ENST00000536184.2_Silent_p.L133L	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	701					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GCAGGAGCATGAGCAGGCCGT	0.662		NA											False	0	False	16:70726807	0
ZYG11B	79699	broad.mit.edu	37	1	53287249	53287249	+	Missense_Mutation	SNP	G	G	A	rs151077871		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:53287249G>A	ENST00000294353.6	+	14	2328	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H	ZYG11B_ENST00000443756.2_Missense_Mutation_p.R658H	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	728							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CACATTGTGCGCCATGGGAGG	0.418		NA											False	0	False	1:53287249	0
POM121L9P	0	broad.mit.edu	37	22	24659805	24659805	+	RNA	SNP	C	C	G			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:24659805C>G	ENST00000414583.2	+	0	3330					NR_003714.1					NA											NA						TGCTCCCTATCTGCGCACCCG	0.607		NA											False	0	False	22:24659805	0
LRCH3	84859	broad.mit.edu	37	3	197553808	197553808	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:197553808C>T	ENST00000438796.2	+	5	744	c.700C>T	c.(700-702)Cct>Tct	p.P234S	LRCH3_ENST00000425562.2_Missense_Mutation_p.P234S|LRCH3_ENST00000441090.2_Missense_Mutation_p.P108S|LRCH3_ENST00000334859.4_Missense_Mutation_p.P234S|LRCH3_ENST00000414675.2_Missense_Mutation_p.P234S			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	234						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TACCACAATCCCTGTTTGTTA	0.423		NA											False	0	True	3:197553808	0
POTEG	404785	broad.mit.edu	37	14	19553582	19553582	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:19553582A>T	ENST00000409832.3	+	1	218	c.166A>T	c.(166-168)Aca>Tca	p.T56S		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	56										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCTATGAAGACACTCAGGAG	0.617		NA											False	0	False	14:19553582	0
