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
NOL9	79707	broad.mit.edu	37	1	6592130	6592131	+	In_Frame_Ins	INS	-	-	CACACT	rs148428201		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:6592130_6592131insCACACT	ENST00000377705.5	-	9	1576_1577	c.1544_1545insAGTGTG	c.(1543-1545)cat>caAGTGTGt	p.515_515H>QVC		NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN	nucleolar protein 9	515					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GAATTTTGTTATGTGACTCTCT	0.47		NA											False	0	False	1:6592130	0
MIER1	57708	broad.mit.edu	37	1	67436637	67436638	+	Frame_Shift_Ins	INS	-	-	TTAAACAAATTTCT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:67436637_67436638insTTAAACAAATTTCT	ENST00000357692.2	+	10	1068_1069	c.811_812insTTAAACAAATTTCT	c.(811-813)gaafs	p.E271fs	MIER1_ENST00000371014.1_Frame_Shift_Ins_p.E307fs|MIER1_ENST00000401041.1_Frame_Shift_Ins_p.E307fs|MIER1_ENST00000355356.3_Frame_Shift_Ins_p.E254fs|MIER1_ENST00000401042.3_Frame_Shift_Ins_p.E254fs|MIER1_ENST00000371018.3_Frame_Shift_Ins_p.E271fs|MIER1_ENST00000355977.6_Frame_Shift_Ins_p.E191fs|MIER1_ENST00000371016.1_Frame_Shift_Ins_p.E271fs	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	278	ELM2.|Interaction with HDAC1.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						AAAAGACAATGAACAGGTCTGT	0.347		NA											False	0	False	1:67436637	0
OVGP1	5016	broad.mit.edu	37	1	111957212	111957213	+	In_Frame_Ins	INS	-	-	CCAGAATAG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:111957212_111957213insCCAGAATAG	ENST00000369732.3	-	11	1965_1966	c.1910_1911insCTATTCTGG	c.(1909-1911)gct>gcCTATTCTGGt	p.637_638insYSG		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	637					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GGTTGTCAAAAGCTAGAGGAGT	0.475		NA											False	0	True	1:111957212	0
OVGP1	5016	broad.mit.edu	37	1	111957214	111957215	+	Frame_Shift_Ins	INS	-	-	CAATCTCTTTTCCA	rs61741101	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:111957214_111957215insCAATCTCTTTTCCA	ENST00000369732.3	-	11	1963_1964	c.1908_1909insTGGAAAAGAGATTG	c.(1906-1911)ctagctfs	p.A637fs		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	637					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TTGTCAAAAGCTAGAGGAGTTT	0.48		NA											False	0	False	1:111957214	0
C10orf10	11067	broad.mit.edu	37	10	45472968	45472969	+	Frame_Shift_Ins	INS	-	-	AAAGGGAAATGCTTTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:45472968_45472969insAAAGGGAAATGCTTTT	ENST00000298295.3	-	2	727_728	c.510_511insAAAAGCATTTCCCTTT	c.(508-513)cagcagfs	p.Q171fs	C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000340258.4_Intron|RASSF4_ENST00000472561.1_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	171						mitochondrion				lung(1)	1						TCAGAGCTCTGCTGCCCATCCT	0.639		NA											False	0	False	10:45472968	0
ANK3	288	broad.mit.edu	37	10	62149348	62149349	+	Translation_Start_Site	INS	-	-	TATGCCAGAGC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:62149348_62149349insTATGCCAGAGC	ENST00000280772.1	-	0	139_140				ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	NA					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTAAAAGGTGATATCCTCAGG	0.406		NA											False	0	False	10:62149348	0
RHOBTB1	9886	broad.mit.edu	37	10	62648928	62648929	+	Frame_Shift_Ins	INS	-	-	AGAGTGT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:62648928_62648929insAGAGTGT	ENST00000337910.5	-	6	834_835	c.497_498insACACTCT	c.(496-498)gggfs	p.-166fs	RHOBTB1_ENST00000357917.4_Frame_Shift_Ins_p.-166fs	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	NA					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GCAAAATATCCCCTCTCTTTAT	0.396		NA											False	0	True	10:62648928	0
RHOBTB1	9886	broad.mit.edu	37	10	62648930	62648931	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:62648930_62648931insT	ENST00000337910.5	-	6	832_833	c.495_496insA	c.(493-498)agagggfs	p.G166fs	RHOBTB1_ENST00000357917.4_Frame_Shift_Ins_p.G166fs	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	166	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AAAATATCCCCTCTCTTTATGG	0.391		NA											False	1	True	10:62648930	0
JMJD1C	221037	broad.mit.edu	37	10	64973791	64973792	+	Frame_Shift_Ins	INS	-	-	CCATTACCTACCA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:64973791_64973792insCCATTACCTACCA	ENST00000399262.2	-	8	2353_2354	c.2135_2136insTGGTAGGTAATGG	c.(2134-2136)acafs	p.-712fs	JMJD1C_ENST00000399251.1_Frame_Shift_Ins_p.-493fs|JMJD1C_ENST00000542921.1_Frame_Shift_Ins_p.-530fs|JMJD1C_ENST00000402544.1_Frame_Shift_Ins_p.-493fs	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	NA					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.T493I(1)|p.T712I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTCTGTAAACTGTAAAATGCTC	0.381		NA											False	0	True	10:64973791	0
CCSER2	54462	broad.mit.edu	37	10	86131898	86131899	+	Frame_Shift_Ins	INS	-	-	CCTATTAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:86131898_86131899insCCTATTAA	ENST00000224756.8	+	2	1275_1276	c.1090_1091insCCTATTAA	c.(1090-1092)gacfs	p.D364fs	CCSER2_ENST00000359979.4_Frame_Shift_Ins_p.D364fs|CCSER2_ENST00000372088.2_Frame_Shift_Ins_p.D364fs	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2	NA											NA						TGCTAATAAGGACCAAGAACTG	0.376		NA											False	0	False	10:86131898	0
TCTN3	26123	broad.mit.edu	37	10	97424030	97424031	+	Frame_Shift_Ins	INS	-	-	CCTAGAGACTATGTGAAGAAAAGAAAATAATC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:97424030_97424031insCCTAGAGACTATGTGAAGAAAAGAAAATAATC	ENST00000371217.4	-	14	1845_1846	c.1656_1657insGATTATTTTCTTTTCTTCACATAGTCTCTAGG	c.(1654-1659)tctttgfs	p.L553fs	TCTN3_ENST00000430368.1_Frame_Shift_Ins_p.L392fs|TCTN3_ENST00000265993.8_Frame_Shift_Ins_p.L540fs			Q6NUS6	TECT3_HUMAN	tectonic family member 3	540					apoptosis	integral to membrane				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		AGAGTTGTCAAAGATACTTCTG	0.45		NA											False	0	True	10:97424030	0
TLL2	7093	broad.mit.edu	37	10	98273378	98273379	+	Frame_Shift_Ins	INS	-	-	CG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:98273378_98273379insCG	ENST00000357947.3	-	1	289_290	c.64_65insCG	c.(64-66)ggcfs	p.G22fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	22					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCCCCCGGCGCCGCGAGGCAGC	0.728		NA											False	2	False	10:98273378	0
PGAM1	5223	broad.mit.edu	37	10	99192225	99192226	+	Frame_Shift_Ins	INS	-	-	GACTTTGACAGAAATTAAAATAAGACACCCTTTCTGATCTTTAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:99192225_99192226insGACTTTGACAGAAATTAAAATAAGACACCCTTTCTGATCTTTAT	ENST00000334828.5	+	4	857_858	c.709_710insGACTTTGACAGAAATTAAAATAAGACACCCTTTCTGATCTTTAT	c.(709-711)gagfs	p.E237fs	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	237					gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		GGGGGATGAAGAGACGGTGCGC	0.574		NA											False	0	False	10:99192225	0
CUTC	51076	broad.mit.edu	37	10	101503000	101503001	+	In_Frame_Ins	INS	-	-	GCT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:101503000_101503001insGCT	ENST00000370476.5	+	4	413_414	c.284_285insGCT	c.(283-288)gaaatt>gaGCTaatt	p.95_96EI>ELI	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	95					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		TCAGATCGTGAAATTGAGGTGA	0.441		NA											False	0	True	10:101503000	0
CUTC	51076	broad.mit.edu	37	10	101503002	101503003	+	Frame_Shift_Ins	INS	-	-	AAGCCAATGATATATTATTGGTCAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:101503002_101503003insAAGCCAATGATATATTATTGGTCAT	ENST00000370476.5	+	4	415_416	c.286_287insAAGCCAATGATATATTATTGGTCAT	c.(286-288)attfs	p.-95fs	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	NA					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		AGATCGTGAAATTGAGGTGATG	0.446		NA											False	0	True	10:101503002	0
NRAP	4892	broad.mit.edu	37	10	115374691	115374692	+	In_Frame_Ins	INS	-	-	AATTCCCTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:115374691_115374692insAATTCCCTG	ENST00000359988.3	-	28	3336_3337	c.3092_3093insCAGGGAATT	c.(3091-3093)gaa>gaCAGGGAATTa	p.1031_1031E>DREL	NRAP_ENST00000369360.3_In_Frame_Ins_p.1004_1004E>DREL|NRAP_ENST00000360478.3_In_Frame_Ins_p.996_996E>DREL|NRAP_ENST00000369358.4_In_Frame_Ins_p.1039_1039E>DREL	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1031						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGCTCCAGGATTCCTTATAACG	0.46		NA											False	0	False	10:115374691	0
SMC3	9126	broad.mit.edu	37	10	112361496	112361497	+	Frame_Shift_Ins	INS	-	-	TACCTATAAAGCCAGTGTTATATGTTGAGTATAG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:112361496_112361497insTACCTATAAAGCCAGTGTTATATGTTGAGTATAG	ENST00000361804.4	+	24	2872_2873	c.2746_2747insTACCTATAAAGCCAGTGTTATATGTTGAGTATAG	c.(2746-2748)aatfs	p.N916fs		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	916					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGATGCTATAAATCATGATACT	0.356		NA											False	0	True	10:112361496	0
OR51B2	79345	broad.mit.edu	37	11	5344828	5344829	+	In_Frame_Ins	INS	-	-	TATCTAAACATAGGTTTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:5344828_5344829insTATCTAAACATAGGTTTA	ENST00000328813.2	-	1	753_754	c.699_700insTAAACCTATGTTTAGATA	c.(697-702)gccaaa>gccTAAACCTATGTTTAGATAaaa	p.233_234AK>A*TYV*IK	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGAGGGCTTTGGCTCTCTCTT	0.386		NA											False	0	True	11:5344828	0
FAR1	84188	broad.mit.edu	37	11	13732418	13732419	+	Splice_Site	INS	-	-	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:13732418_13732419insA	ENST00000354817.3	+	5	867		c.e5+1		FAR1_ENST00000527202.1_Splice_Site	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	NA					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						ACCTTTTCCAGTAAGTTGTTAG	0.351		NA											False	0	False	11:13732418	0
FAR1	84188	broad.mit.edu	37	11	13732419	13732420	+	Splice_Site	INS	-	-	ATTTTACTATAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:13732419_13732420insATTTTACTATAA	ENST00000354817.3	+	5	867		c.e5+2		FAR1_ENST00000527202.1_Splice_Site	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	NA					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CCTTTTCCAGTAAGTTGTTAGA	0.351		NA											False	0	False	11:13732419	0
LRRC4C	57689	broad.mit.edu	37	11	40136146	40136147	+	In_Frame_Ins	INS	-	-	TACACAGTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:40136146_40136147insTACACAGTT	ENST00000278198.2	-	2	3659_3660	c.1696_1697insAACTGTGTA	c.(1696-1698)gtt>gAACTGTGTAtt	p.566_566V>ELCI	LRRC4C_ENST00000527150.1_In_Frame_Ins_p.566_566V>ELCI|LRRC4C_ENST00000528697.1_In_Frame_Ins_p.566_566V>ELCI|LRRC4C_ENST00000530763.1_In_Frame_Ins_p.566_566V>ELCI			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	566					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AATAATTTCAACAGTCCTTGTT	0.475		NA											False	0	False	11:40136146	0
TRIM33	51592	broad.mit.edu	37	1	114948223	114948224	+	In_Frame_Ins	INS	-	-	AGGTACCAG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:114948223_114948224insAGGTACCAG	ENST00000358465.2	-	15	2659_2660	c.2576_2577insCTGGTACCT	c.(2575-2577)aat>aaCTGGTACCTt	p.859_860insWYL	TRIM33_ENST00000450349.2_In_Frame_Ins_p.491_492insWYL|TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000369543.2_In_Frame_Ins_p.859_860insWYL	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	859					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGACTTTCCATTAACAAGGCT	0.46		NA	T	RET	papillary thyroid								False	0	False	1:114948223	0
NOTCH2	4853	broad.mit.edu	37	1	120458705	120458706	+	In_Frame_Ins	INS	-	-	ATAGCT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:120458705_120458706insATAGCT	ENST00000256646.2	-	34	6858_6859	c.6639_6640insAGCTAT	c.(6637-6642)ggggcc>gggAGCTATgcc	p.2213_2214GA>GSYA		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2213					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGTGCTGGCCCCATGTGCCA	0.564		NA	"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				False	0	True	1:120458705	0
PDE4DIP	9659	broad.mit.edu	37	1	144871881	144871883	+	Splice_Site	DEL	CCT	CCT	-			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:144871881_144871883delCCT	ENST00000530740.1	-	34	5374	c.5336delAGG	c.(5335-5337)gag>gg	p.E1779del	PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Splice_Site_p.E1694del|PDE4DIP_ENST00000369356.4_Splice_Site_p.E1694del|PDE4DIP_ENST00000369359.4_Splice_Site_p.E1830del|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1694					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAAATGAAAGCCTAGGAAAAGAA	0.468		NA	T	PDGFRB	MPD								False	1	False	1:144871881	0
SEC22B	9554	broad.mit.edu	37	1	145115910	145115911	+	RNA	INS	-	-	AAGTATTTTACCGAAAGTAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:145115910_145115911insAAGTATTTTACCGAAAGTAT	ENST00000453618.1	+	0	996_997							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)	NA					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding				NA						ACAGTCACTGGTAAGGGAGAAC	0.401		NA											False	0	False	1:145115910	0
ARL14EP	120534	broad.mit.edu	37	11	30358327	30358328	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:30358327_30358328insG	ENST00000282032.3	+	4	983_984	c.768_769insG	c.(769-771)aaafs	p.K257fs		NM_152316.1	NP_689529.1			ADP-ribosylation factor-like 14 effector protein	NA											NA						TAATTCATAATAAACATGCTGG	0.386		NA											False	0	True	11:30358327	0
ARL14EP	120534	broad.mit.edu	37	11	30358329	30358330	+	Frame_Shift_Ins	INS	-	-	TTAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:30358329_30358330insTTAT	ENST00000282032.3	+	4	985_986	c.770_771insTTAT	c.(769-774)aaacatfs	p.KH257fs		NM_152316.1	NP_689529.1			ADP-ribosylation factor-like 14 effector protein	NA											NA						ATTCATAATAAACATGCTGGAT	0.381		NA											False	0	True	11:30358329	0
RP11-707M1.1	0	broad.mit.edu	37	11	49831537	49831538	+	RNA	INS	-	-	GATATGAC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:49831537_49831538insGATATGAC	ENST00000527477.1	+	0	1762_1763										NA											NA						AAGAATCAGAATGGCAATATAT	0.45		NA											False	0	False	11:49831537	0
OR5I1	10798	broad.mit.edu	37	11	55703516	55703517	+	Frame_Shift_Ins	INS	-	-	AGCT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:55703516_55703517insAGCT	ENST00000301532.3	-	1	359_360	c.360_361insAGCT	c.(358-363)atggccfs	p.A121fs		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CGATCATAGGCCATGGCGGCCA	0.446		NA											False	0	False	11:55703516	0
OR5B17	219965	broad.mit.edu	37	11	58126522	58126523	+	Frame_Shift_Ins	INS	-	-	CAAAGGTTATA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:58126522_58126523insCAAAGGTTATA	ENST00000357377.3	-	1	19_20	c.20_21insTATAACCTTTG	c.(19-21)gtgfs	p.-7fs		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	NA					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAATTCACTCACCTCTGTATT	0.406		NA											False	0	True	11:58126522	0
ALG8	79053	broad.mit.edu	37	11	77835185	77835186	+	Frame_Shift_Ins	INS	-	-	GTACAGTGTTAAGTAGTATTAAC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:77835185_77835186insGTACAGTGTTAAGTAGTATTAAC	ENST00000376156.3	-	3	252_253	c.249_250insGTTAATACTACTTAACACTGTAC	c.(247-252)aaatatfs	p.Y84fs	ALG8_ENST00000299626.5_Frame_Shift_Ins_p.Y84fs|ALG8_ENST00000532552.2_Intron	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	84					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TGATCAAAATATTTGGCAACAT	0.381		NA											False	0	True	11:77835185	0
USP35	57558	broad.mit.edu	37	11	77921262	77921263	+	Frame_Shift_Ins	INS	-	-	TCCTCCTCCT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:77921262_77921263insTCCTCCTCCT	ENST00000529308.1	+	10	2622_2623	c.2361_2362insTCCTCCTCCT	c.(2362-2364)ctgfs	p.L788fs	USP35_ENST00000530267.1_Frame_Shift_Ins_p.L356fs|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Frame_Shift_Ins_p.L519fs|USP35_ENST00000441408.2_Frame_Shift_Ins_p.L374fs	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	788					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CGTGTGCCTCCCTGCAGGATGC	0.624		NA											False	0	True	11:77921262	0
CCDC83	220047	broad.mit.edu	37	11	85630478	85630479	+	Frame_Shift_Ins	INS	-	-	ACCAGCTTGATAGATTAGGCTTTCTTTATTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:85630478_85630479insACCAGCTTGATAGATTAGGCTTTCTTTATTA	ENST00000280245.4	+	12	1772_1773	c.1260_1261insACCAGCTTGATAGATTAGGCTTTCTTTATTA	c.(1261-1263)ccafs	p.P421fs	CCDC83_ENST00000342404.3_Frame_Shift_Ins_p.P390fs|CCDC83_ENST00000376067.1_Frame_Shift_Ins_p.P290fs|RP11-90K17.2_ENST00000531414.1_RNA	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	390										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)				AGAAGGAAATTCCAGTCAAACT	0.421		NA											False	0	False	11:85630478	0
FAT3	120114	broad.mit.edu	37	11	92086172	92086173	+	Frame_Shift_Ins	INS	-	-	ATACCTATTCTTTTCATCA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:92086172_92086173insATACCTATTCTTTTCATCA	ENST00000525166.1	+	1	466_467	c.444_445insATACCTATTCTTTTCATCA	c.(445-447)gaafs	p.E149fs	FAT3_ENST00000298047.6_Frame_Shift_Ins_p.E299fs|FAT3_ENST00000541502.1_Frame_Shift_Ins_p.E299fs|FAT3_ENST00000409404.2_Frame_Shift_Ins_p.E299fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	299	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGGAGAGATCGAATCTGTTTC	0.436		NA								TCGA Ovarian(4;0.039)			False	0	False	11:92086172	0
KDELC2	143888	broad.mit.edu	37	11	108357108	108357109	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:108357108_108357109insGT	ENST00000434945.2	-	2	593_594	c.291_292insAC	c.(289-294)actcttfs	p.L98fs	KDELC2_ENST00000323468.5_Frame_Shift_Ins_p.L154fs|KDELC2_ENST00000375648.1_Frame_Shift_Ins_p.L98fs			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	154						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		GGACAAGAAAGAGTCTTCTGCC	0.465		NA											False	0	True	11:108357108	0
KDELC2	143888	broad.mit.edu	37	11	108357110	108357111	+	Frame_Shift_Ins	INS	-	-	GAGAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:108357110_108357111insGAGAA	ENST00000434945.2	-	2	591_592	c.289_290insTTCTC	c.(289-291)actfs	p.T97fs	KDELC2_ENST00000323468.5_Frame_Shift_Ins_p.T153fs|KDELC2_ENST00000375648.1_Frame_Shift_Ins_p.T97fs			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	153						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		ACAAGAAAGAGTCTTCTGCCAG	0.465		NA											False	0	False	11:108357110	0
OR6T1	219874	broad.mit.edu	37	11	123813849	123813850	+	In_Frame_Ins	INS	-	-	TCCGCA	rs76651236	by1000genomes	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:123813849_123813850insTCCGCA	ENST00000321252.2	-	1	730_731	c.696_697insTGCGGA	c.(694-699)gctgag>gctTGCGGAgag	p.232_233AE>ACGE		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
TAS2R13	50838	broad.mit.edu	37	12	11061117	11061118	+	Frame_Shift_Ins	INS	-	-	AGATTATTGAATA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:11061117_11061118insAGATTATTGAATA	ENST00000390677.2	-	1	1043_1044	c.780_781insTATTCAATAATCT	c.(778-783)acagtgfs	p.V261fs	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	261					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						ATGTAGATCACTGTGTTCTGAT	0.376		NA											False	0	False	12:11061117	0
TAS2R20	259295	broad.mit.edu	37	12	11149970	11149971	+	In_Frame_Ins	INS	-	-	CGTATTACTTGC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:11149970_11149971insCGTATTACTTGC	ENST00000538986.1	-	1	503_504	c.504_505insGCAAGTAATACG	c.(502-507)ctgagg>ctgGCAAGTAATACGagg	p.168_169LR>LASNTR	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	168					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						ATTGCATTCCTCAGTTTGATCT	0.396		NA											False	0	False	12:11149970	0
POLR3C	10623	broad.mit.edu	37	1	145594112	145594113	+	Frame_Shift_Ins	INS	-	-	ACTAGCAATT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:145594112_145594113insACTAGCAATT	ENST00000334163.3	-	14	1609_1610	c.1449_1450insAATTGCTAGT	c.(1447-1452)cagttafs	p.L484fs	POLR3C_ENST00000369294.1_Intron	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	484					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			ATTTCTTGTAACTGTGCTTCCT	0.446		NA											False	0	False	1:145594112	0
XPOT	11260	broad.mit.edu	37	12	64819680	64819681	+	Frame_Shift_Ins	INS	-	-	GGGTTTTGTTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:64819680_64819681insGGGTTTTGTTG	ENST00000332707.5	+	15	2187_2188	c.1658_1659insGGGTTTTGTTG	c.(1657-1662)aaatctfs	p.S554fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	554	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGATTTGTCAAATCTCTCAAGT	0.366		NA											False	0	True	12:64819680	0
XPOT	11260	broad.mit.edu	37	12	64819681	64819682	+	Frame_Shift_Ins	INS	-	-	TATTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:64819681_64819682insTATTG	ENST00000332707.5	+	15	2188_2189	c.1659_1660insTATTG	c.(1660-1662)tctfs	p.S554fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	554	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GATTTGTCAAATCTCTCAAGTA	0.371		NA											False	0	True	12:64819681	0
PTPRB	0	broad.mit.edu	37	12	71016261	71016262	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:71016261_71016262insCA	ENST00000550358.1	-	3	641_642	c.616_617insTG	c.(616-618)gagfs	p.E206fs	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000334414.6_Frame_Shift_Ins_p.E206fs|PTPRB_ENST00000551525.1_Frame_Shift_Ins_p.E205fs			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.E206*(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGCTGCCTCTCGCTGCTGTTT	0.465		NA											False	0	False	12:71016261	0
CEP290	80184	broad.mit.edu	37	12	88443110	88443111	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:88443110_88443111insCC	ENST00000552810.1	-	54	7633_7634	c.7290_7291insGG	c.(7288-7293)aattacfs	p.Y2431fs	C12orf29_ENST00000356891.3_3'UTR|CEP290_ENST00000309041.7_Frame_Shift_Ins_p.Y2433fs|CEP290_ENST00000547691.2_Frame_Shift_Ins_p.Y1491fs|CEP290_ENST00000397838.3_Frame_Shift_Ins_p.Y1491fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2431					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCTTCCTTGTAATTATACTTAA	0.307		NA											False	0	False	12:88443110	0
ANO4	121601	broad.mit.edu	37	12	101336307	101336308	+	In_Frame_Ins	INS	-	-	GTTCAAGTGAGTAATGTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:101336307_101336308insGTTCAAGTGAGTAATGTT	ENST00000392979.3	+	4	706_707	c.345_346insGTTCAAGTGAGTAATGTT	c.(346-348)aaa>GTTCAAGTGAGTAATGTTaaa	p.115_116insVQVSNV	ANO4_ENST00000299222.9_De_novo_Start_OutOfFrame|ANO4_ENST00000392977.3_In_Frame_Ins_p.150_151insVQVSNV|ANO4_ENST00000538618.1_In_Frame_Ins_p.316_317insVQVSNV	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	150			G -> A (in dbSNP:rs34162417).			chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGCAAATGGAGAAAGAGGTAAA	0.337		NA								HNSCC(74;0.22)			False	0	True	12:101336307	0
UTP20	27340	broad.mit.edu	37	12	101779480	101779481	+	In_Frame_Ins	INS	-	-	ATTTGAACATCAACAAAATCAACAATATGTACAACA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:101779480_101779481insATTTGAACATCAACAAAATCAACAATATGTACAACA	ENST00000261637.4	+	61	8350_8351	c.8176_8177insATTTGAACATCAACAAAATCAACAATATGTACAACA	c.(8176-8178)ctc>cATTTGAACATCAACAAAATCAACAATATGTACAACAtc	p.2726_2726L>HLNINKINNMYNI		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2726					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GAAAAGGGCACTCCGGAAAAAG	0.431		NA											False	0	False	12:101779480	0
PLA2G1B	5319	broad.mit.edu	37	12	120760117	120760118	+	In_Frame_Ins	INS	-	-	ATTCTCTGTCTATAAACTAGG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:120760117_120760118insATTCTCTGTCTATAAACTAGG	ENST00000423423.3	-	3	222_223	c.197_198insCCTAGTTTATAGACAGAGAAT	c.(196-198)caa>caCCTAGTTTATAGACAGAGAATa	p.66_66Q>HLVYRQRI	PLA2G1B_ENST00000308366.4_In_Frame_Ins_p.109_109K>T*FIDRE*|PLA2G1B_ENST00000549767.1_In_Frame_Ins_p.80_80K>T*FIDRE*			P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	0					actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCTTTGTTTTTGCCTGGAGAG	0.49		NA											False	0	True	12:120760117	0
DIABLO	56616	broad.mit.edu	37	12	122709110	122709111	+	Frame_Shift_Ins	INS	-	-	GAGCAGATATA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:122709110_122709111insGAGCAGATATA	ENST00000443649.3	-	3	948_949	c.131_132insTATATCTGCTC	c.(130-132)aaafs	p.K44fs	DIABLO_ENST00000267169.6_Intron|DIABLO_ENST00000353548.6_Frame_Shift_Ins_p.K44fs|DIABLO_ENST00000413918.1_Frame_Shift_Ins_p.K44fs|RP11-512M8.5_ENST00000535844.1_Intron|DIABLO_ENST00000464942.2_Intron	NM_019887.4	NP_063940.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	44				K -> R (in Ref. 2; BAB14994).	activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCGTCACAGTTTTGTGCCATGG	0.446		NA											False	0	True	12:122709110	0
DIABLO	56616	broad.mit.edu	37	12	122709112	122709113	+	Frame_Shift_Ins	INS	-	-	AATATTCTCATTTTGATTATCTCATTTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:122709112_122709113insAATATTCTCATTTTGATTATCTCATTTG	ENST00000443649.3	-	3	946_947	c.129_130insCAAATGAGATAATCAAAATGAGAATATT	c.(127-132)cacaaafs	p.K44fs	DIABLO_ENST00000267169.6_Intron|DIABLO_ENST00000353548.6_Frame_Shift_Ins_p.K44fs|DIABLO_ENST00000413918.1_Frame_Shift_Ins_p.K44fs|RP11-512M8.5_ENST00000535844.1_Intron|DIABLO_ENST00000464942.2_Intron	NM_019887.4	NP_063940.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	44				K -> R (in Ref. 2; BAB14994).	activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GTCACAGTTTTGTGCCATGGTC	0.45		NA											False	0	True	12:122709112	0
DNAH10	196385	broad.mit.edu	37	12	124326085	124326086	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:124326085_124326086insGG	ENST00000409039.3	+	29	5024_5025	c.4999_5000insGG	c.(4999-5001)agafs	p.R1667fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1667	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGTGAAGACAGAAGCAGGTAA	0.411		NA											False	1	False	12:124326085	0
DNAH10	196385	broad.mit.edu	37	12	124326087	124326088	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:124326087_124326088insG	ENST00000409039.3	+	29	5026_5027	c.5001_5002insG	c.(5002-5004)agcfs	p.S1668fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1668	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTGAAGACAGAAGCAGGTAAGG	0.406		NA											False	0	False	12:124326087	0
TMEM132B	114795	broad.mit.edu	37	12	126138392	126138393	+	In_Frame_Ins	INS	-	-	TCACTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:126138392_126138393insTCACTG	ENST00000299308.3	+	9	2381_2382	c.2373_2374insTCACTG	c.(2374-2376)agt>TCACTGagt	p.792_792S>SLS	TMEM132B_ENST00000535886.1_In_Frame_Ins_p.304_304S>SLS	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
NUP210L	91181	broad.mit.edu	37	1	154030623	154030624	+	In_Frame_Ins	INS	-	-	CAGATTTTCTCC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:154030623_154030624insCAGATTTTCTCC	ENST00000368559.3	-	22	3119_3120	c.3048_3049insGGAGAAAATCTG	c.(3046-3051)aataaa>aatGGAGAAAATCTGaaa	p.1016_1017NK>NGENLK	NUP210L_ENST00000271854.3_In_Frame_Ins_p.1016_1017NK>NGENLK	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1016						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTGAAGTATTTATTTTGGAATG	0.386		NA											False	0	True	1:154030623	0
SLC50A1	55974	broad.mit.edu	37	1	155110513	155110514	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:155110513_155110514insTG	ENST00000368404.4	+	5	565_566	c.503_504insTG	c.(502-507)acccttfs	p.L169fs	SLC50A1_ENST00000303343.8_Frame_Shift_Ins_p.L115fs|SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000484157.1_Frame_Shift_Ins_p.L104fs|SLC50A1_ENST00000368401.5_Frame_Shift_Ins_p.L114fs	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	169	Mediates interaction with TRPV2 (By similarity).|MtN3/slv 2.				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						ACCATTGCTACCCTTCTCACCT	0.51		NA											False	0	True	1:155110513	0
GON4L	54856	broad.mit.edu	37	1	155736113	155736114	+	In_Frame_Ins	INS	-	-	TATCCACCA	rs149688057		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:155736113_155736114insTATCCACCA	ENST00000437809.1	-	21	3272_3273	c.3150_3151insTGGTGGATA	c.(3148-3153)cagaca>cagTGGTGGATAaca	p.1050_1051QT>QWWIT	GON4L_ENST00000361040.5_In_Frame_Ins_p.1050_1051QT>QWWIT|GON4L_ENST00000271883.5_In_Frame_Ins_p.1050_1051QT>QWWIT|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_In_Frame_Ins_p.1050_1051QT>QWWIT			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1050					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCTGGAACTGTCTGTAAAACAG	0.574		NA											False	0	True	1:155736113	0
CBLN3	643866	broad.mit.edu	37	14	24897077	24897078	+	Frame_Shift_Ins	INS	-	-	GCAGAGG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:24897077_24897078insGCAGAGG	ENST00000555436.1	-	3	450_451	c.382_383insCCTCTGC	c.(382-384)gtgfs	p.V128fs	CBLN3_ENST00000267406.6_Frame_Shift_Ins_p.V179fs			Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	179	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		GCGCAGAGACACTCGGTCCCCA	0.574		NA											False	0	False	14:24897077	0
BAZ1A	11177	broad.mit.edu	37	14	35331471	35331472	+	Translation_Start_Site	INS	-	-	ATCGTTCGCGCTTACATGAAATTTGTGATGATATCTTTGCATAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:35331471_35331472insATCGTTCGCGCTTACATGAAATTTGTGATGATATCTTTGCATAT	ENST00000553853.1	-	0	45_46				BAZ1A_ENST00000382422.2_Frame_Shift_Ins_p.-57fs|BAZ1A_ENST00000360310.1_Frame_Shift_Ins_p.-57fs|BAZ1A_ENST00000358716.4_Frame_Shift_Ins_p.-57fs			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	NA					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	p.T57T(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CAGGTCTACCCGTCACAGCACA	0.386		NA											False	0	True	14:35331471	0
POLE2	5427	broad.mit.edu	37	14	50117144	50117145	+	Frame_Shift_Ins	INS	-	-	ACCCT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:50117144_50117145insACCCT	ENST00000539565.2	-	16	1475_1476	c.1257_1258insAGGGT	c.(1255-1260)atcttafs	p.L420fs	POLE2_ENST00000554396.1_Frame_Shift_Ins_p.L446fs|POLE2_ENST00000216367.5_Frame_Shift_Ins_p.L446fs|POLE2_ENST00000556584.1_5'UTR	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	446					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	p.I445M(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					CCTTGGGATAAGATAGTCTTTA	0.356		NA											False	0	False	14:50117144	0
POLE2	5427	broad.mit.edu	37	14	50117145	50117146	+	In_Frame_Ins	INS	-	-	TAAGAATGTAGTTAATCTTAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:50117145_50117146insTAAGAATGTAGTTAATCTTAT	ENST00000539565.2	-	16	1474_1475	c.1256_1257insATAAGATTAACTACATTCTTA	c.(1255-1257)atc>atATAAGATTAACTACATTCTTAc	p.419_420ins*D*LHSY	POLE2_ENST00000554396.1_In_Frame_Ins_p.445_446ins*D*LHSY|POLE2_ENST00000216367.5_In_Frame_Ins_p.445_446ins*D*LHSY|POLE2_ENST00000556584.1_5'UTR	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	445					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	p.I445M(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					CTTGGGATAAGATAGTCTTTAC	0.356		NA											False	0	False	14:50117145	0
SMEK1	55671	broad.mit.edu	37	14	91927948	91927949	+	Frame_Shift_Ins	INS	-	-	CCCAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:91927948_91927949insCCCAA	ENST00000554684.1	-	14	2624_2625	c.2128_2129insTTGGG	c.(2128-2130)aaafs	p.K710fs	SMEK1_ENST00000554943.1_Frame_Shift_Ins_p.K723fs|SMEK1_ENST00000428424.2_Frame_Shift_Ins_p.K484fs|SMEK1_ENST00000337238.4_Frame_Shift_Ins_p.K710fs|SMEK1_ENST00000555462.1_Frame_Shift_Ins_p.K484fs|SMEK1_ENST00000555718.1_5'UTR			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	723						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		CTCACTTTCTTTTACTAAAAAT	0.396		NA											False	0	True	14:91927948	0
RTL1	388015	broad.mit.edu	37	14	101348366	101348367	+	In_Frame_Ins	INS	-	-	CACTTCAACTTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:101348366_101348367insCACTTCAACTTT	ENST00000534062.1	-	1	2817_2818	c.2759_2760insAAAGTTGAAGTG	c.(2758-2760)gcg>gcAAAGTTGAAGTGg	p.920_921insKLKW		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	920										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCTTCATCTCCGCTTGAGAGTA	0.55		NA											False	0	False	14:101348366	0
ISG20L2	81875	broad.mit.edu	37	1	156697115	156697116	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:156697115_156697116insGT	ENST00000313146.6	-	1	1111_1112	c.329_330insAC	c.(328-330)gatfs	p.D110fs	ISG20L2_ENST00000368219.1_Frame_Shift_Ins_p.D110fs	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	110					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCAACAGAATCAGCCTTTTT	0.515		NA									OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:156697115	0
ISG20L2	81875	broad.mit.edu	37	1	156697117	156697118	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:156697117_156697118delCA	ENST00000313146.6	-	1	1109_1110	c.327_328delTG	c.(325-330)gctgatfs	p.D110fs	ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.D110fs	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	110					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAACAGAATCAGCCTTTTTTG	0.515		NA									OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	1	False	1:156697117	0
SPTA1	6708	broad.mit.edu	37	1	158589107	158589108	+	Frame_Shift_Ins	INS	-	-	CATAGGGATGAAAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:158589107_158589108insCATAGGGATGAAAT	ENST00000368148.3	-	45	6614_6615	c.6434_6435insATTTCATCCCTATG	c.(6433-6435)ctgfs	p.-2145fs	SPTA1_ENST00000368147.3_Frame_Shift_Ins_p.-2142fs	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTCCTTTTGCAGCTCCTGCTC	0.465		NA											False	0	False	1:158589107	0
WDR76	79968	broad.mit.edu	37	15	44158578	44158579	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:44158578_44158579insGT	ENST00000381246.2	+	13	1948_1949	c.1677_1678insGT	c.(1678-1680)aaafs	p.K560fs	WDR76_ENST00000478130.1_3'UTR|WDR76_ENST00000263795.6_Frame_Shift_Ins_p.K624fs			Q9H967	WDR76_HUMAN	WD repeat domain 76	624										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TTATGAATGAAAAAAGCTGCTG	0.406		NA											False	0	True	15:44158578	0
WDR76	79968	broad.mit.edu	37	15	44158580	44158581	+	Frame_Shift_Ins	INS	-	-	GGTTAAAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:44158580_44158581insGGTTAAAT	ENST00000381246.2	+	13	1950_1951	c.1679_1680insGGTTAAAT	c.(1678-1683)aaaagcfs	p.S561fs	WDR76_ENST00000478130.1_3'UTR|WDR76_ENST00000263795.6_Frame_Shift_Ins_p.S625fs			Q9H967	WDR76_HUMAN	WD repeat domain 76	625										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		ATGAATGAAAAAAGCTGCTGAG	0.411		NA											False	0	True	15:44158580	0
MYEF2	50804	broad.mit.edu	37	15	48435246	48435247	+	Frame_Shift_Ins	INS	-	-	TTAAAGTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:48435246_48435247insTTAAAGTA	ENST00000324324.7	-	17	1940_1941	c.1661_1662insTACTTTAA	c.(1660-1662)atafs	p.-554fs	MYEF2_ENST00000267836.6_Frame_Shift_Ins_p.-530fs	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	NA					transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TCTCCATTTTTATTTCTGCAAA	0.327		NA											False	0	True	15:48435246	0
MAPK6	5597	broad.mit.edu	37	15	52357100	52357101	+	Frame_Shift_Ins	INS	-	-	CACAAAC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:52357100_52357101insCACAAAC	ENST00000261845.5	+	6	2876_2877	c.2069_2070insCACAAAC	c.(2068-2073)cttaagfs	p.K691fs	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	691					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GGGTCACCACTTAAGTCAATAC	0.436		NA											False	0	False	15:52357100	0
LACTB	114294	broad.mit.edu	37	15	63419711	63419712	+	Frame_Shift_Ins	INS	-	-	ATTCAATT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:63419711_63419712insATTCAATT	ENST00000413507.2	+	4	814_815	c.775_776insATTCAATT	c.(775-777)aagfs	p.K259fs	RPS27L_ENST00000559763.1_Intron|LACTB_ENST00000261893.4_Frame_Shift_Ins_p.K259fs	NM_171846.2	NP_741982.1	P83111	LACTB_HUMAN	lactamase, beta	259						mitochondrion	hydrolase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						AAGTAATGAAAAGAATGATTTT	0.332		NA											False	0	True	15:63419711	0
DNAJA4	55466	broad.mit.edu	37	15	78567999	78568000	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:78567999_78568000insTT	ENST00000446172.2	+	5	787_788	c.725_726insTT	c.(724-729)gaagctfs	p.EA242fs	DNAJA4_ENST00000343789.3_Frame_Shift_Ins_p.EA269fs|DNAJA4_ENST00000394855.3_Frame_Shift_Ins_p.EA298fs|DNAJA4_ENST00000394852.3_Frame_Shift_Ins_p.EA269fs	NM_001130183.1	NP_001123655.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	269					protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						CAGCTTTCTGAAGCTCTTTGTG	0.381		NA											False	0	False	15:78567999	0
MORF4L1	10933	broad.mit.edu	37	15	79179691	79179692	+	Splice_Site	INS	-	-	AATGTCAACATAAAATGA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:79179691_79179692insAATGTCAACATAAAATGA	ENST00000379535.4	+	6	962	c.398_398insAATGTCAACATAAAATGA	c.(397-399)gtg>gAATGTCAACATAAAATGAtg	p.133_133V>ECQHKMM	MORF4L1_ENST00000558746.1_Intron|MORF4L1_ENST00000558502.1_Splice_Site_p.20_20V>ECQHKMM|MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000426013.2_Splice_Site_p.108_108V>ECQHKMM|MORF4L1_ENST00000559345.1_Splice_Site_p.20_20V>ECQHKMM|MORF4L1_ENST00000331268.5_Splice_Site_p.147_147V>ECQHKMM			Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	147	Sufficient for interaction with SIN3A.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						AATGTTGAAGTGTAAGAAGCTC	0.376		NA											False	0	False	15:79179691	0
MCTP2	55784	broad.mit.edu	37	15	94913410	94913411	+	Splice_Site	INS	-	-	AAATCTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:94913410_94913411insAAATCTT	ENST00000357742.4	+	11	1582		c.e11+1		MCTP2_ENST00000451018.3_Splice_Site|MCTP2_ENST00000331706.4_Splice_Site|MCTP2_ENST00000557742.1_Splice_Site	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	NA					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GATTTCTCAGGTACAGGACATT	0.376		NA											False	0	False	15:94913410	0
NUF2	83540	broad.mit.edu	37	1	163309268	163309269	+	Splice_Site	INS	-	-	AGATGAAGAAATTGTCTACTTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:163309268_163309269insAGATGAAGAAATTGTCTACTTT	ENST00000271452.3	+	8	885		c.e8+1		NUF2_ENST00000524800.1_Splice_Site|NUF2_ENST00000367900.3_Splice_Site	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	NA					cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TCAAAAAACGGTATCTGTTGTG	0.371		NA											False	0	False	1:163309268	0
FMO3	2328	broad.mit.edu	37	1	171080113	171080114	+	In_Frame_Ins	INS	-	-	TTAGTGACCATTTGT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:171080113_171080114insTTAGTGACCATTTGT	ENST00000367755.4	+	6	913_914	c.802_803insTTAGTGACCATTTGT	c.(802-804)aac>aTTAGTGACCATTTGTac	p.268_268N>ISDHLY	FMO3_ENST00000538429.1_In_Frame_Ins_p.205_205N>ISDHLY|FMO3_ENST00000392085.2_In_Frame_Ins_p.268_268N>ISDHLY|FMO3_ENST00000542847.1_In_Frame_Ins_p.248_248N>ISDHLY	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	268					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAAGCATGAAAACTATGGCTTG	0.441		NA											False	0	True	1:171080113	0
RRN3P2	0	broad.mit.edu	37	16	29105707	29105708	+	RNA	INS	-	-	GAAAAAGAATAAAAGGATTTAAAAAAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr16:29105707_29105708insGAAAAAGAATAAAAGGATTTAAAAAAT	ENST00000564580.1	+	0	843										NA											NA						AAAGGGTGGAAACAGCTAGTGC	0.356		NA											False	0	True	16:29105707	0
NCOR1	9611	broad.mit.edu	37	17	15989694	15989695	+	Frame_Shift_Ins	INS	-	-	TGTAATAAATAATAATC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:15989694_15989695insTGTAATAAATAATAATC	ENST00000268712.3	-	23	3335_3336	c.3078_3079insGATTATTATTTATTACA	c.(3076-3081)acaactfs	p.T1027fs	NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.T1043fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1027	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTTGGTCGAGTTGTCGGAAGCC	0.465		NA											False	0	False	17:15989694	0
AXDND1	126859	broad.mit.edu	37	1	179414303	179414304	+	Frame_Shift_Ins	INS	-	-	TCTTTTTTCTC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:179414303_179414304insTCTTTTTTCTC	ENST00000367618.3	+	16	2149_2150	c.1762_1763insTCTTTTTTCTC	c.(1762-1764)tacfs	p.Y588fs	AXDND1_ENST00000457238.2_Frame_Shift_Ins_p.Y588fs|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	588										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ACAAAAACTCTACAAAGAATAT	0.312		NA											False	0	False	1:179414303	0
TROVE2	6738	broad.mit.edu	37	1	193045721	193045722	+	Frame_Shift_Ins	INS	-	-	TTAAGGGAAAATAAATCAGTATAACATACCTATATAAAAAAAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:193045721_193045722insTTAAGGGAAAATAAATCAGTATAACATACCTATATAAAAAAAT	ENST00000367445.3	+	4	1079_1080	c.892_893insTTAAGGGAAAATAAATCAGTATAACATACCTATATAAAAAAAT	c.(892-894)aatfs	p.N298fs	TROVE2_ENST00000367441.1_Frame_Shift_Ins_p.N298fs|TROVE2_ENST00000367444.3_Frame_Shift_Ins_p.N298fs|TROVE2_ENST00000416058.2_Frame_Shift_Ins_p.N23fs|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367446.3_Frame_Shift_Ins_p.N298fs|TROVE2_ENST00000367443.1_Frame_Shift_Ins_p.N298fs|TROVE2_ENST00000400968.2_Frame_Shift_Ins_p.N298fs|TROVE2_ENST00000432079.1_Frame_Shift_Ins_p.N23fs	NM_001042370.2	NP_001035829.2	P10155	RO60_HUMAN	TROVE domain family, member 2	298	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TGAACCAGGAAATTCAGAAGTA	0.322		NA											False	0	True	1:193045721	0
ASPM	259266	broad.mit.edu	37	1	197091099	197091100	+	Frame_Shift_Ins	INS	-	-	GCATTATTAAGATAAATTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:197091099_197091100insGCATTATTAAGATAAATTT	ENST00000367409.4	-	16	4071_4072	c.3815_3816insAAATTTATCTTAATAATGC	c.(3814-3816)ctcfs	p.-1272fs	ASPM_ENST00000294732.7_Frame_Shift_Ins_p.-1272fs|ASPM_ENST00000367408.1_Frame_Shift_Ins_p.-522fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	NA					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGTTTGTATGAGTCGAGCAGC	0.322		NA											False	0	False	1:197091099	0
SUZ12	23512	broad.mit.edu	37	17	30322748	30322749	+	Frame_Shift_Ins	INS	-	-	AAATAAATGTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:30322748_30322749insAAATAAATGTT	ENST00000322652.5	+	14	1990_1991	c.1761_1762insAAATAAATGTT	c.(1762-1764)gatfs	p.D588fs	SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.D565fs	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	588	VEFS-box.				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				AAGATGAAAAGGATCCTGAATG	0.327		NA	T	JAZF1	endometrial stromal tumours								False	0	False	17:30322748	0
SUZ12	23512	broad.mit.edu	37	17	30322750	30322751	+	Frame_Shift_Ins	INS	-	-	TTTATGGCCTC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:30322750_30322751insTTTATGGCCTC	ENST00000322652.5	+	14	1992_1993	c.1763_1764insTTTATGGCCTC	c.(1762-1767)gatcctfs	p.P589fs	SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.P566fs	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	589	VEFS-box.				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				GATGAAAAGGATCCTGAATGGC	0.327		NA	T	JAZF1	endometrial stromal tumours								False	0	False	17:30322750	0
TAF15	8148	broad.mit.edu	37	17	34171571	34171572	+	Frame_Shift_Ins	INS	-	-	ATAAGCACGA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:34171571_34171572insATAAGCACGA	ENST00000588240.1	+	15	1383_1384	c.1268_1269insATAAGCACGA	c.(1267-1272)agtgggfs	p.SG423fs	TAF15_ENST00000311979.3_Frame_Shift_Ins_p.SG420fs|TAF15_ENST00000592237.1_Splice_Site	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	423	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ggagacagaagtgggggtggct	0.619		NA	T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								False	0	True	17:34171571	0
USP32	84669	broad.mit.edu	37	17	58282903	58282904	+	In_Frame_Ins	INS	-	-	TTCTTTTCTTTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:58282903_58282904insTTCTTTTCTTTA	ENST00000300896.4	-	26	3347_3348	c.3153_3154insTAAAGAAAAGAA	c.(3151-3156)actgag>actTAAAGAAAAGAAgag	p.1051_1052TE>T*RKEE	USP32_ENST00000592339.1_In_Frame_Ins_p.721_722TE>T*RKEE	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1051					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AAGTTCTTCTCAGTTCCACATG	0.446		NA											False	0	False	17:58282903	0
BPTF	2186	broad.mit.edu	37	17	65908306	65908306	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:65908306delG	ENST00000306378.6	+	11	4366	c.4306delG	c.(4306-4308)gttfs	p.V1436fs	BPTF_ENST00000335221.5_Frame_Shift_Del_p.V1562fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.V1423fs|BPTF_ENST00000321892.4_Frame_Shift_Del_p.V1562fs	NM_182641.3	NP_872579.2	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1562					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGTGGTAATGTTGAACCAAA	0.274		NA											False	1	False	17:65908306	0
KLHL14	57565	broad.mit.edu	37	18	30260502	30260503	+	Frame_Shift_Ins	INS	-	-	AAGCACTCTC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr18:30260502_30260503insAAGCACTCTC	ENST00000359358.4	-	6	1736_1737	c.1298_1299insGAGAGTGCTT	c.(1297-1299)aatfs	p.N433fs		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	433						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AGCCAGTTTCATTCCTTCCACC	0.475		NA											False	0	True	18:30260502	0
NR5A2	2494	broad.mit.edu	37	1	200080441	200080442	+	Frame_Shift_Ins	INS	-	-	AAGCACA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:200080441_200080442insAAGCACA	ENST00000367362.3	+	6	1468_1469	c.1222_1223insAAGCACA	c.(1222-1224)gggfs	p.G408fs	NR5A2_ENST00000236914.3_Frame_Shift_Ins_p.G362fs|NR5A2_ENST00000544748.1_Frame_Shift_Ins_p.G336fs	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	408					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCTGGTTACTGGGCAACAAGTG	0.416		NA											False	0	True	1:200080441	0
MUC16	94025	broad.mit.edu	37	19	9046560	9046561	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:9046560_9046561insTT	ENST00000397910.4	-	5	35273_35274	c.35070_35071insAA	c.(35068-35073)tgggtcfs	p.V11691fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11693	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						GGATGAGTGACCCAGGAAGCCA	0.525		NA											False	0	True	19:9046560	0
MUC16	94025	broad.mit.edu	37	19	9046561	9046562	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:9046561_9046562insA	ENST00000397910.4	-	5	35272_35273	c.35069_35070insT	c.(35068-35070)tggfs	p.W11690fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11692	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						GATGAGTGACCCAGGAAGCCAT	0.525		NA											False	0	True	19:9046561	0
ZNF627	199692	broad.mit.edu	37	19	11727707	11727708	+	Frame_Shift_Ins	INS	-	-	GAAGTACATTATTAATGTTTTGTTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:11727707_11727708insGAAGTACATTATTAATGTTTTGTTT	ENST00000361113.5	+	4	597_598	c.389_390insGAAGTACATTATTAATGTTTTGTTT	c.(388-393)gaatatfs	p.Y131fs	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						GAACCAAATGAATATCAGGAAT	0.45		NA											False	0	False	19:11727707	0
ZNF430	80264	broad.mit.edu	37	19	21239653	21239654	+	Frame_Shift_Ins	INS	-	-	CTTCTTGGAAAGAATCT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:21239653_21239654insCTTCTTGGAAAGAATCT	ENST00000261560.5	+	5	720_721	c.539_540insCTTCTTGGAAAGAATCT	c.(538-543)gataaafs	p.K181fs		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTTCAATATGATAAATATGTGA	0.302		NA											False	0	True	19:21239653	0
ARHGAP35	2909	broad.mit.edu	37	19	47422093	47422094	+	In_Frame_Ins	INS	-	-	GACAGCTTCCTACATTAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:47422093_47422094insGACAGCTTCCTACATTAT	ENST00000404338.3	+	1	161_162	c.161_162insGACAGCTTCCTACATTAT	c.(160-165)catacc>caGACAGCTTCCTACATTATtacc	p.54_54H>QTASYII		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	54					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity				NA						CACTTGGACCATACCTCCGTCC	0.54		NA											False	0	False	19:47422093	0
ASH1L	55870	broad.mit.edu	37	1	155447927	155447928	+	In_Frame_Ins	INS	-	-	GACACT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:155447927_155447928insGACACT	ENST00000368346.3	-	3	5372_5373	c.4733_4734insAGTGTC	c.(4732-4734)gac>gaAGTGTCc	p.1578_1578D>EVS	ASH1L_ENST00000392403.3_In_Frame_Ins_p.1578_1578D>EVS			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1578					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTCTGAACAGTCAATCTGTAA	0.455		NA											False	0	False	1:155447927	0
ASH1L	55870	broad.mit.edu	37	1	155447929	155447930	+	Frame_Shift_Ins	INS	-	-	ACTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:155447929_155447930insACTA	ENST00000368346.3	-	3	5370_5371	c.4731_4732insTAGT	c.(4729-4734)attgacfs	p.D1578fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.D1578fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1578					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCTGAACAGTCAATCTGTAAAG	0.455		NA											False	0	False	1:155447929	0
NLRP7	199713	broad.mit.edu	37	19	55449575	55449576	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:55449575_55449576insAA	ENST00000588756.1	-	7	2451_2452	c.1965_1966insTT	c.(1963-1968)cggcagfs	p.Q656fs	NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000590030.1_Frame_Shift_Ins_p.Q656fs|NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000340844.2_Frame_Shift_Ins_p.Q656fs|NLRP7_ENST00000446217.1_Frame_Shift_Ins_p.Q684fs|NLRP7_ENST00000592784.1_Frame_Shift_Ins_p.Q656fs			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	656							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CGAAGATCCTGCCGAGCCCAGT	0.5		NA											False	0	False	19:55449575	0
PROKR2	128674	broad.mit.edu	37	20	5295012	5295013	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:5295012_5295013insGG	ENST00000217270.3	-	1	2_3	c.3_4insCC	c.(1-6)atggcafs	p.A2fs	PROKR2_ENST00000546004.1_Frame_Shift_Ins_p.A2fs	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	2						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TTCTGGGCTGCCATGGTGATGT	0.53		NA								HNSCC(71;0.22)			False	0	False	20:5295012	0
MGME1	92667	broad.mit.edu	37	20	17951012	17951020	+	Splice_Site	DEL	AAGTAATTA	AAGTAATTA	-			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	AAGTAATTA	AAGTAATTA	-	-	AAGTAATTA	AAGTAATTA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:17951012_17951020delAAGTAATTA	ENST00000377710.5	+	2	798_799	c.510_511delAAGTAATTA	c.(508-513)tcaagt>tcgt	p.170_171SS>S	MGME1_ENST00000377709.1_Intron|MGME1_ENST00000467391.1_3'UTR|MGME1_ENST00000377704.4_Splice_Site_p.170_171SS>S	NM_052865.2	NP_443097.1			mitochondrial genome maintenance exonuclease 1	NA											NA						AATACACTTCAAGTAATTATCTCAATTCT	0.359		NA											False	1	False	20:17951012	0
NAA20	51126	broad.mit.edu	37	20	20007556	20007557	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:20007556_20007557insA	ENST00000310450.4	+	4	385_386	c.298_299insA	c.(298-300)tcafs	p.S100fs	NAA20_ENST00000334982.4_Frame_Shift_Ins_p.S100fs|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000398602.2_Frame_Shift_Ins_p.S88fs	NM_181528.3	NP_852669.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	100	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						AGAGGAGATTTCAGAAAGGTGA	0.446		NA											False	0	True	20:20007556	0
NAA20	51126	broad.mit.edu	37	20	20007557	20007558	+	Frame_Shift_Ins	INS	-	-	ACATAAATAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:20007557_20007558insACATAAATAT	ENST00000310450.4	+	4	386_387	c.299_300insACATAAATAT	c.(298-303)tcagaafs	p.E101fs	NAA20_ENST00000334982.4_Frame_Shift_Ins_p.E101fs|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000398602.2_Frame_Shift_Ins_p.E89fs	NM_181528.3	NP_852669.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	101	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						GAGGAGATTTCAGAAAGGTGAG	0.446		NA											False	0	False	20:20007557	0
DHX35	60625	broad.mit.edu	37	20	37632518	37632519	+	In_Frame_Ins	INS	-	-	AAAATAAAAGTTGGGATC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:37632518_37632519insAAAATAAAAGTTGGGATC	ENST00000252011.3	+	11	1012_1013	c.979_980insAAAATAAAAGTTGGGATC	c.(979-981)gtg>gAAAATAAAAGTTGGGATCtg	p.327_327V>ENKSWDL	DHX35_ENST00000373325.2_In_Frame_Ins_p.327_327V>ENKSWDL|DHX35_ENST00000373323.4_In_Frame_Ins_p.296_296V>ENKSWDL	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
SYCP2	10388	broad.mit.edu	37	20	58449064	58449065	+	In_Frame_Ins	INS	-	-	TCTCTTTATCAGATATATCTGAAG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:58449064_58449065insTCTCTTTATCAGATATATCTGAAG	ENST00000357552.3	-	35	3626_3627	c.3401_3402insCTTCAGATATATCTGATAAAGAGA	c.(3400-3402)aca>acCTTCAGATATATCTGATAAAGAGAa	p.1134_1135insFRYI**RE	SYCP2_ENST00000371001.2_In_Frame_Ins_p.1134_1135insFRYI**RE			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1134					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATATAGATTTTGTTATGCAGTC	0.302		NA											False	0	True	20:58449064	0
KCNE1	3753	broad.mit.edu	37	21	35821678	35821679	+	Frame_Shift_Ins	INS	-	-	ACCTGATTTTCTAATCACATTCCTCTCATACTCTTTATTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr21:35821678_35821679insACCTGATTTTCTAATCACATTCCTCTCATACTCTTTATTG	ENST00000337385.3	-	3	629_630	c.254_255insCAATAAAGAGTATGAGAGGAATGTGATTAGAAAATCAGGT	c.(253-255)gatfs	p.-85fs	KCNE1_ENST00000399284.1_Frame_Shift_Ins_p.-85fs|KCNE1_ENST00000399286.2_Frame_Shift_Ins_p.-85fs|KCNE1_ENST00000416357.2_Frame_Shift_Ins_p.-85fs|KCNE1_ENST00000399289.3_Frame_Shift_Ins_p.-85fs|KCNE1_ENST00000432085.1_Frame_Shift_Ins_p.-85fs	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	NA					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	CTTGCCAGGCATCGGACTCGAT	0.55		NA											False	0	False	21:35821678	0
MORC3	23515	broad.mit.edu	37	21	37741983	37741984	+	Frame_Shift_Ins	INS	-	-	TCTTGTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr21:37741983_37741984insTCTTGTA	ENST00000400485.1	+	15	2393_2394	c.2317_2318insTCTTGTA	c.(2317-2319)tatfs	p.Y773fs	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	773					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GGTATCTCAGTATCAGCAAGCT	0.371		NA											False	0	False	21:37741983	0
SPECC1L	23384	broad.mit.edu	37	22	24726375	24726376	+	In_Frame_Ins	INS	-	-	GAGCAATCAAGATTTATTTAAAAGCAATAAAATTTGTTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:24726375_24726376insGAGCAATCAAGATTTATTTAAAAGCAATAAAATTTGTTT	ENST00000314328.9	+	8	2657_2658	c.2372_2373insGAGCAATCAAGATTTATTTAAAAGCAATAAAATTTGTTT	c.(2371-2376)gaattg>gaGAGCAATCAAGATTTATTTAAAAGCAATAAAATTTGTTTattg	p.791_792EL>ESNQDLFKSNKICLL	SPECC1L_ENST00000437398.1_In_Frame_Ins_p.791_792EL>ESNQDLFKSNKICLL|SPECC1L_ENST00000541492.1_In_Frame_Ins_p.791_792EL>ESNQDLFKSNKICLL|KB-1896H10.1_ENST00000358654.2_In_Frame_Ins_p.791_792EL>ESNQDLFKSNKICLL	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	791					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CTCACAAAAGAATTGGAGGAAA	0.376		NA											False	0	False	22:24726375	0
EWSR1	2130	broad.mit.edu	37	22	29693898	29693899	+	Frame_Shift_Ins	INS	-	-	TGTAATCTTCTCTAAGATCTTTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:29693898_29693899insTGTAATCTTCTCTAAGATCTTTA	ENST00000397938.2	+	13	1695_1696	c.1376_1377insTGTAATCTTCTCTAAGATCTTTA	c.(1375-1380)ccacccfs	p.P460fs	EWSR1_ENST00000332050.6_Frame_Shift_Ins_p.P387fs|EWSR1_ENST00000332035.6_Frame_Shift_Ins_p.P404fs|EWSR1_ENST00000331029.7_Frame_Shift_Ins_p.P422fs|EWSR1_ENST00000414183.2_Frame_Shift_Ins_p.P465fs|EWSR1_ENST00000406548.1_Frame_Shift_Ins_p.P459fs	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	460	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGTGGTCTGCCACCCCGTGAGG	0.49		NA	T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								False	0	True	22:29693898	0
SERHL	94009	broad.mit.edu	37	22	42905033	42905037	+	RNA	DEL	GGCAG	GGCAG	-			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	GGCAG	GGCAG	-	-	GGCAG	GGCAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:42905033_42905037delGGCAG	ENST00000359906.2	+	0	614_618					NR_027786.1				serine hydrolase-like	NA										endometrium(1)|large_intestine(1)	2						TGTCTCTGCAGGCAGAGAACAGCAT	0.561		NA											False	1	True	22:42905033	0
ZFX	7543	broad.mit.edu	37	X	24229460	24229461	+	Frame_Shift_Ins	INS	-	-	AATGGAAG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:24229460_24229461insAATGGAAG	ENST00000379177.1	+	11	2812_2813	c.2385_2386insAATGGAAG	c.(2386-2388)atgfs	p.M796fs	ZFX_ENST00000379188.3_Frame_Shift_Ins_p.M796fs|ZFX_ENST00000539115.1_Frame_Shift_Ins_p.M567fs|ZFX_ENST00000304543.5_Frame_Shift_Ins_p.M796fs|ZFX_ENST00000540034.1_Frame_Shift_Ins_p.M835fs|ZFX_ENST00000338565.3_Frame_Shift_Ins_p.M746fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	796					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						ACCAGCACATAATGCGACATCA	0.411		NA											False	0	False	X:24229460	0
HUWE1	10075	broad.mit.edu	37	X	53592200	53592201	+	Splice_Site	INS	-	-	AT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:53592200_53592201insAT	ENST00000342160.3	-	49	7165	c.6708_6708insAT	c.(6706-6708)agt>agATt	p.S2236fs	HUWE1_ENST00000262854.6_Splice_Site_p.S2236fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2236					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCATGTTGGGACTGAGATAAGG	0.436		NA											False	0	False	X:53592200	0
OGT	8473	broad.mit.edu	37	X	70793607	70793608	+	In_Frame_Ins	INS	-	-	AACTCTACGCTATCT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:70793607_70793608insAACTCTACGCTATCT	ENST00000373719.3	+	22	3321_3322	c.3104_3105insAACTCTACGCTATCT	c.(3103-3108)cacatg>caAACTCTACGCTATCTcatg	p.1035_1035H>QTLRYL	OGT_ENST00000373701.3_In_Frame_Ins_p.1025_1025H>QTLRYL	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	1035					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AAACCTGACCACATGATTAAGC	0.455		NA											False	0	False	X:70793607	0
OGT	8473	broad.mit.edu	37	X	70793609	70793610	+	Frame_Shift_Ins	INS	-	-	TTTC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:70793609_70793610insTTTC	ENST00000373719.3	+	22	3323_3324	c.3106_3107insTTTC	c.(3106-3108)atgfs	p.M1036fs	OGT_ENST00000373701.3_Frame_Shift_Ins_p.M1026fs	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	1036					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ACCTGACCACATGATTAAGCCT	0.46		NA											False	0	False	X:70793609	0
ATRX	546	broad.mit.edu	37	X	76938995	76938996	+	In_Frame_Ins	INS	-	-	AGATGAAGAATGTAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:76938995_76938996insAGATGAAGAATGTAA	ENST00000373344.5	-	9	1966_1967	c.1752_1753insTTACATTCTTCATCT	c.(1750-1755)aaagaa>aaaTTACATTCTTCATCTgaa	p.584_585KE>KLHSSSE	ATRX_ENST00000395603.3_In_Frame_Ins_p.546_547KE>KLHSSSE|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	584					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.E585K(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACATATAATTCTTTTGTTACTT	0.327		NA	"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						False	0	True	X:76938995	0
COL4A6	1288	broad.mit.edu	37	X	107402967	107402968	+	Frame_Shift_Ins	INS	-	-	CATC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:107402967_107402968insCATC	ENST00000334504.7	-	44	4769_4770	c.4536_4537insGATG	c.(4534-4539)ggctccfs	p.S1513fs	COL4A6_ENST00000418180.1_Frame_Shift_Ins_p.S48fs|COL4A6_ENST00000372216.4_Frame_Shift_Ins_p.S1514fs|COL4A6_ENST00000545689.1_Frame_Shift_Ins_p.S1489fs|COL4A6_ENST00000538570.1_Frame_Shift_Ins_p.S1456fs|COL4A6_ENST00000394872.2_Frame_Shift_Ins_p.S1514fs	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1514	Collagen IV NC1.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGCAGACAGGAGCCAGCAAAGC	0.554		NA							Alport syndrome with Diffuse Leiomyomatosis				False	0	False	X:107402967	0
TRPC5	7224	broad.mit.edu	37	X	111090643	111090644	+	Frame_Shift_Ins	INS	-	-	TTTATCTACTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:111090643_111090644insTTTATCTACTG	ENST00000262839.2	-	6	2316_2317	c.1398_1399insCAGTAGATAAA	c.(1396-1401)agggagfs	p.E467fs		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	467					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCCCATTCCTCCCTTGGACGAG	0.431		NA											False	0	True	X:111090643	0
FMR1NB	158521	broad.mit.edu	37	X	147084820	147084821	+	Frame_Shift_Ins	INS	-	-	TAAATTAATTATA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:147084820_147084821insTAAATTAATTATA	ENST00000370467.3	+	2	451_452	c.377_378insTAAATTAATTATA	c.(376-381)ctgaatfs	p.N127fs		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	127	P-type.					integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGCTTTGCTGAATTTTTTCT	0.381		NA											False	0	False	X:147084820	0
KIDINS220	57498	broad.mit.edu	37	2	8888131	8888132	+	Splice_Site	INS	-	-	CTAGTAAGTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:8888131_8888132insCTAGTAAGTA	ENST00000256707.3	-	25	3596		c.e25-1		KIDINS220_ENST00000473731.1_Splice_Site|KIDINS220_ENST00000427284.1_Splice_Site|KIDINS220_ENST00000418530.1_Intron	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	NA					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)					CAAAGAATGGCTATGGAAAAAC	0.386		NA											False	0	False	2:8888131	0
TTC7A	57217	broad.mit.edu	37	2	47221577	47221578	+	In_Frame_Ins	INS	-	-	TGG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:47221577_47221578insTGG	ENST00000319190.5	+	7	1293_1294	c.925_926insTGG	c.(925-927)cct>cTGGct	p.309_309P>LA	TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_In_Frame_Ins_p.275_275P>LA|TTC7A_ENST00000394850.2_In_Frame_Ins_p.309_309P>LA|TTC7A_ENST00000263737.6_Intron	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	309							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCACCCTCTGCCTGAGTTCATG	0.614		NA											False	0	False	2:47221577	0
GPR75	10936	broad.mit.edu	37	2	54081026	54081027	+	In_Frame_Ins	INS	-	-	ATATTTTTCAAGTCA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:54081026_54081027insATATTTTTCAAGTCA	ENST00000394705.2	-	2	1137_1138	c.867_868insTGACTTGAAAAATAT	c.(865-870)accaag>accTGACTTGAAAAATATaag	p.289_290TK>T*LEKYK	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	289						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTGGGACTCTTGGTATATCCAC	0.554		NA											False	0	False	2:54081026	0
USP34	9736	broad.mit.edu	37	2	61431719	61431720	+	In_Frame_Ins	INS	-	-	GTATTTATCTAGCACAGTACTTCAATATGGTTCGCATTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:61431719_61431720insGTATTTATCTAGCACAGTACTTCAATATGGTTCGCATTT	ENST00000398571.2	-	73	9247_9248	c.9171_9172insAAATGCGAACCATATTGAAGTACTGTGCTAGATAAATAC	c.(9169-9174)cttgta>cttAAATGCGAACCATATTGAAGTACTGTGCTAGATAAATACgta	p.3057_3058LV>LKCEPY*STVLDKYV		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3057					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTCAAAAGTACAAGTTCCTTGA	0.342		NA											False	0	False	2:61431719	0
HK2	3099	broad.mit.edu	37	2	75100471	75100472	+	In_Frame_Ins	INS	-	-	GGGTAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:75100471_75100472insGGGTAA	ENST00000409174.1	+	5	670_671	c.480_481insGGGTAA	c.(481-483)atc>GGGTAAatc	p.160_161insG*	HK2_ENST00000290573.2_In_Frame_Ins_p.188_189insG*			P52789	HXK2_HUMAN	hexokinase 2	188	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			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						TTGTGGCTCTGATCCGGAAGGC	0.55		NA											False	0	False	2:75100471	0
BUB1	699	broad.mit.edu	37	2	111395627	111395628	+	In_Frame_Ins	INS	-	-	ATAAATCCCATGGAATATTTCCATGTAACT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:111395627_111395628insATAAATCCCATGGAATATTTCCATGTAACT	ENST00000302759.6	-	25	3289_3290	c.3171_3172insAGTTACATGGAAATATTCCATGGGATTTAT	c.(3169-3174)gtattt>gtaAGTTACATGGAAATATTCCATGGGATTTATttt	p.1057_1058VF>VSYMEIFHGIYF	BUB1_ENST00000409311.1_In_Frame_Ins_p.1000_1001VF>VSYMEIFHGIYF|BUB1_ENST00000535254.1_In_Frame_Ins_p.1037_1038VF>VSYMEIFHGIYF	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	1057	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGTTGTTGAAATACTTTCTTCA	0.322		NA											False	0	True	2:111395627	0
ANAPC1	64682	broad.mit.edu	37	2	112614257	112614258	+	Splice_Site	INS	-	-	T	rs4067742		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:112614257_112614258insT	ENST00000341068.3	-	13	2222		c.e13-1			NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	NA					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGTCTATTTTCTAAAAAAACAA	0.361		NA											False	1	True	2:112614257	0
TTL	150465	broad.mit.edu	37	2	113260636	113260637	+	In_Frame_Ins	INS	-	-	TTTCTGCATATTATATAC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:113260636_113260637insTTTCTGCATATTATATAC	ENST00000233336.5	+	5	944_945	c.753_754insTTTCTGCATATTATATAC	c.(754-756)aac>TTTCTGCATATTATATACaac	p.251_252insFLHIIY		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	251	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		AGTATTCAAAGAACTACGGGAA	0.376		NA	T	ETV6	ALL								False	0	False	2:113260636	0
UGGT1	56886	broad.mit.edu	37	2	128903497	128903498	+	Frame_Shift_Ins	INS	-	-	TTTTTCTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:128903497_128903498insTTTTTCTT	ENST00000259253.6	+	18	2019_2020	c.1972_1973insTTTTTCTT	c.(1972-1974)aaafs	p.K658fs	UGGT1_ENST00000375990.3_Frame_Shift_Ins_p.K634fs	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	658					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CACAATGCATAAAATCCTGGAG	0.446		NA											False	0	True	2:128903497	0
UGGT1	56886	broad.mit.edu	37	2	128903498	128903499	+	In_Frame_Ins	INS	-	-	CATGCCTGTTCTAACAAC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:128903498_128903499insCATGCCTGTTCTAACAAC	ENST00000259253.6	+	18	2020_2021	c.1973_1974insCATGCCTGTTCTAACAAC	c.(1972-1977)aaaatc>aaCATGCCTGTTCTAACAACaatc	p.658_658K>NMPVLTT	UGGT1_ENST00000375990.3_In_Frame_Ins_p.634_634K>NMPVLTT	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	658					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	p.K658N(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACAATGCATAAAATCCTGGAGA	0.441		NA											False	0	True	2:128903498	0
RAB3GAP1	22930	broad.mit.edu	37	2	135893285	135893286	+	Frame_Shift_Ins	INS	-	-	AAATAACATTTAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:135893285_135893286insAAATAACATTTAT	ENST00000264158.8	+	17	1749_1750	c.1706_1707insAAATAACATTTAT	c.(1705-1710)ggagagfs	p.E570fs	RAB3GAP1_ENST00000442034.1_Frame_Shift_Ins_p.E570fs|RAB3GAP1_ENST00000539493.1_Frame_Shift_Ins_p.E526fs|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	570						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAGGAAAAGGGAGAGGTAGGAA	0.406		NA											False	0	True	2:135893285	0
FMNL2	114793	broad.mit.edu	37	2	153485033	153485034	+	Frame_Shift_Ins	INS	-	-	CACAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:153485033_153485034insCACAA	ENST00000475377.2	+	5	711_712	c.511_512insCACAA	c.(511-513)cagfs	p.-170fs	FMNL2_ENST00000288670.9_Frame_Shift_Ins_p.-795fs			Q96PY5	FMNL2_HUMAN	formin-like 2	NA					actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TGAAAGCATTCAGATGCTGACT	0.455		NA											False	0	False	2:153485033	0
SESTD1	91404	broad.mit.edu	37	2	179977463	179977464	+	Frame_Shift_Ins	INS	-	-	ATGC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:179977463_179977464insATGC	ENST00000428443.3	-	17	2264_2265	c.1948_1949insGCAT	c.(1948-1950)gttfs	p.V650fs		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	650					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATCAGGATAAACTACTGGAACA	0.342		NA											False	0	True	2:179977463	0
SESTD1	91404	broad.mit.edu	37	2	179977466	179977475	+	Frame_Shift_Del	DEL	ACTGGAACAG	ACTGGAACAG	-	rs143992866		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	ACTGGAACAG	ACTGGAACAG	-	-	ACTGGAACAG	ACTGGAACAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:179977466_179977475delACTGGAACAG	ENST00000428443.3	-	17	2253_2262	c.1937_1946delCTGTTCCAGT	c.(1936-1947)actgttccagtafs	p.TVPV646fs		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	646					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGGATAAACTACTGGAACAGTTAATCTATC	0.338		NA											False	1	False	2:179977466	0
SSFA2	6744	broad.mit.edu	37	2	182780429	182780430	+	Frame_Shift_Ins	INS	-	-	CTTCAGTAAT	rs147898134		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:182780429_182780430insCTTCAGTAAT	ENST00000409136.1	+	3	701_702	c.589_590insCTTCAGTAAT	c.(589-591)atgfs	p.M197fs	SSFA2_ENST00000431877.2_Frame_Shift_Ins_p.M688fs|SSFA2_ENST00000320370.7_Frame_Shift_Ins_p.M688fs|SSFA2_ENST00000428267.2_Frame_Shift_Ins_p.M535fs|SSFA2_ENST00000409001.1_Frame_Shift_Ins_p.M688fs			P28290	SSFA2_HUMAN	sperm specific antigen 2	688						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCCCTCTTCCATGGACAGAGTT	0.401		NA											False	0	False	2:182780429	0
NCKAP1	10787	broad.mit.edu	37	2	183829513	183829514	+	Frame_Shift_Ins	INS	-	-	CTATGCAGAATCAGAAAAGTGCTTGAACAGA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:183829513_183829514insCTATGCAGAATCAGAAAAGTGCTTGAACAGA	ENST00000360982.2	-	18	2427_2428	c.1669_1670insTCTGTTCAAGCACTTTTCTGATTCTGCATAG	c.(1669-1671)aagfs	p.K557fs	NCKAP1_ENST00000361354.3_Frame_Shift_Ins_p.K551fs	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	551					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGAAACATCTTCTCAAAAGCA	0.307		NA											False	0	False	2:183829513	0
DNAH7	56171	broad.mit.edu	37	2	196762481	196762482	+	Frame_Shift_Ins	INS	-	-	GTGTGTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:196762481_196762482insGTGTGTT	ENST00000312428.6	-	29	4656_4657	c.4556_4557insAACACAC	c.(4555-4557)tatfs	p.Y1519fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1519					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTCATTTGGATATTTCAGCTA	0.351		NA											False	0	False	2:196762481	0
HOXD8	3234	broad.mit.edu	37	2	176996307	176996308	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:176996307_176996308insCT	ENST00000429017.1	+	3	492_493	c.288_289insCT	c.(289-291)gagfs	p.E97fs	HOXD8_ENST00000548663.1_Frame_Shift_Ins_p.E177fs|HOXD8_ENST00000544999.1_Frame_Shift_Ins_p.E280fs|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000313173.4_Frame_Shift_Ins_p.E281fs|HOXD8_ENST00000450510.2_Frame_Shift_Ins_p.E280fs	NM_001199747.1	NP_001186676.1	P13378	HXD8_HUMAN	homeobox D8	281					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CCCAAGAGCTGGAGGAAGACAG	0.431		NA											False	0	False	2:176996307	0
GOLGA4	2803	broad.mit.edu	37	3	37367172	37367173	+	Frame_Shift_Ins	INS	-	-	CTTTTTTCATGTGAAG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:37367172_37367173insCTTTTTTCATGTGAAG	ENST00000361924.2	+	14	4169_4170	c.3795_3796insCTTTTTTCATGTGAAG	c.(3796-3798)attfs	p.I1266fs	GOLGA4_ENST00000356847.4_Frame_Shift_Ins_p.I1288fs|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1266	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGGCACTGTTAATTAAAACTTG	0.347		NA											False	0	True	3:37367172	0
ZNF660	285349	broad.mit.edu	37	3	44636431	44636432	+	Frame_Shift_Ins	INS	-	-	ACTTTTTTTCC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:44636431_44636432insACTTTTTTTCC	ENST00000322734.2	+	3	1079_1080	c.746_747insACTTTTTTTCC	c.(745-750)aatgagfs	p.NE249fs	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TACAAATGTAATGAGTGTGGGA	0.371		NA											False	0	False	3:44636431	0
ACKR5	0	broad.mit.edu	37	3	46450511	46450512	+	In_Frame_Ins	INS	-	-	AACCTTAGTGTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:46450511_46450512insAACCTTAGTGTT	ENST00000399036.3	+	2	1293_1294	c.941_942insAACCTTAGTGTT	c.(940-945)tgtttc>tgAACCTTAGTGTTtttc	p.314_314C>*TLVF	ACKR5_ENST00000357392.4_In_Frame_Ins_p.326_326C>*TLVF|ACKR5_ENST00000400880.3_In_Frame_Ins_p.314_314C>*TLVF|ACKR5_ENST00000400882.2_In_Frame_Ins_p.314_314C>*TLVF	NM_003965.4	NP_003956.2				NA											NA						CTCTGCCGCTGTTTCCATCTGC	0.51		NA											False	0	True	3:46450511	0
MST1R	4486	broad.mit.edu	37	3	49933830	49933831	+	In_Frame_Ins	INS	-	-	ATTAAG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:49933830_49933831insATTAAG	ENST00000296474.3	-	10	2473_2474	c.2446_2447insCTTAAT	c.(2446-2448)agg>aCTTAATgg	p.816_816R>T*W	MST1R_ENST00000344206.4_In_Frame_Ins_p.816_816R>T*W	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	816	IPT/TIG 3.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGGAAGCTGCCTCTCACACTGC	0.609		NA											False	0	False	3:49933830	0
ALAS1	211	broad.mit.edu	37	3	52242229	52242230	+	In_Frame_Ins	INS	-	-	AGAACAACGTAAACTTCT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:52242229_52242230insAGAACAACGTAAACTTCT	ENST00000394965.2	+	9	1656_1657	c.1296_1297insAGAACAACGTAAACTTCT	c.(1297-1299)atg>AGAACAACGTAAACTTCTatg	p.432_433insRTT*TS	ALAS1_ENST00000469224.1_In_Frame_Ins_p.432_433insRTT*TS|ALAS1_ENST00000484952.1_In_Frame_Ins_p.432_433insRTT*TS|ALAS1_ENST00000310271.2_In_Frame_Ins_p.432_433insRTT*TS	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	432					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GGGATGGAGTCATGCCAAAAAT	0.47		NA											False	0	False	3:52242229	0
CCDC80	151887	broad.mit.edu	37	3	112324416	112324417	+	Frame_Shift_Ins	INS	-	-	CCTTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:112324416_112324417insCCTTT	ENST00000206423.3	-	8	3653_3654	c.2700_2701insAAAGG	c.(2698-2703)agacagfs	p.Q901fs	CCDC80_ENST00000439685.2_Frame_Shift_Ins_p.Q901fs	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	901										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GCCATTTCCTGTCTCCGAAGTT	0.465		NA											False	0	False	3:112324416	0
SPICE1	152185	broad.mit.edu	37	3	113172572	113172573	+	Frame_Shift_Ins	INS	-	-	ATTCAGCTATCAAGGCACATATGAATAATATTATT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:113172572_113172573insATTCAGCTATCAAGGCACATATGAATAATATTATT	ENST00000295872.4	-	14	2141_2142	c.1882_1883insAATAATATTATTCATATGTGCCTTGATAGCTGAAT	c.(1882-1884)ctcfs	p.L628fs		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	628					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GGAATTGCAGAGGGGCTGTGAG	0.48		NA											False	0	True	3:113172572	0
GOLGB1	2804	broad.mit.edu	37	3	121433821	121433822	+	Frame_Shift_Ins	INS	-	-	TACTTCGGTGCTCTAATGAGGATTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:121433821_121433822insTACTTCGGTGCTCTAATGAGGATTT	ENST00000393667.3	-	10	1400_1401	c.1290_1291insAAATCCTCATTAGAGCACCGAAGTA	c.(1288-1293)gatcagfs	p.Q431fs	GOLGB1_ENST00000340645.5_Frame_Shift_Ins_p.Q426fs	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	426					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCTGGAGCTGATCTAAGGAAA	0.307		NA											False	0	False	3:121433821	0
MGLL	11343	broad.mit.edu	37	3	127454654	127454655	+	Frame_Shift_Ins	INS	-	-	CTTTTTTATTTTAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:127454654_127454655insCTTTTTTATTTTAT	ENST00000398101.3	-	1	545_546	c.47_48insATAAAATAAAAAAG	c.(46-48)accfs	p.-16fs	MGLL_ENST00000265052.5_Intron|MGLL_ENST00000453507.2_Intron|MGLL_ENST00000398104.1_Intron|MGLL_ENST00000434178.2_Intron			Q99685	MGLL_HUMAN	monoglyceride lipase	NA					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GCATTCTCTTGGTGCTCGCATC	0.495		NA											False	0	False	3:127454654	0
RSRC1	51319	broad.mit.edu	37	3	157921019	157921020	+	In_Frame_Ins	INS	-	-	GTAAGCAGATTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:157921019_157921020insGTAAGCAGATTT	ENST00000295930.3	+	4	641_642	c.479_480insGTAAGCAGATTT	c.(478-483)cataac>caGTAAGCAGATTTtaac	p.160_160H>Q*ADF	RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000475278.2_In_Frame_Ins_p.160_160H>Q*ADF|RSRC1_ENST00000480820.1_In_Frame_Ins_p.160_160H>Q*ADF	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	160					nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			aaggaATTACATAACATCAAAC	0.411		NA											False	0	False	3:157921019	0
CTD-2049J23.2	0	broad.mit.edu	37	3	159820121	159820122	+	RNA	INS	-	-	TGCT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:159820121_159820122insTGCT	ENST00000497452.1	-	0	517										NA											NA						AAAAAAATGGAGATTACAGAAG	0.446		NA											False	0	False	3:159820121	0
CTD-2049J23.2	0	broad.mit.edu	37	3	159820123	159820124	+	RNA	INS	-	-	AAACGC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:159820123_159820124insAAACGC	ENST00000497452.1	-	0	517										NA											NA						AAAAATGGAGATTACAGAAGTA	0.446		NA											False	0	False	3:159820123	0
MFN1	55669	broad.mit.edu	37	3	179076778	179076779	+	Frame_Shift_Ins	INS	-	-	CAAAACAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:179076778_179076779insCAAAACAT	ENST00000471841.1	+	4	525_526	c.399_400insCAAAACAT	c.(400-402)aagfs	p.K134fs	MFN1_ENST00000280653.7_Frame_Shift_Ins_p.K134fs|MFN1_ENST00000263969.5_Frame_Shift_Ins_p.K134fs	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	134					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CAGATGAAAAAAAGAGTGTGAA	0.347		NA											False	0	True	3:179076778	0
PSMD2	5708	broad.mit.edu	37	3	184020606	184020607	+	Frame_Shift_Ins	INS	-	-	TTTATGCAAGT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:184020606_184020607insTTTATGCAAGT	ENST00000310118.4	+	7	1561_1562	c.1003_1004insTTTATGCAAGT	c.(1003-1005)cggfs	p.R335fs	PSMD2_ENST00000439383.1_Frame_Shift_Ins_p.R205fs|PSMD2_ENST00000435761.1_Frame_Shift_Ins_p.R176fs|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	335					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GGCCTTAGCTCGGGAGGTGAGA	0.485		NA											False	0	True	3:184020606	0
MUC4	4585	broad.mit.edu	37	3	195517983	195517984	+	Frame_Shift_Ins	INS	-	-	TTCTCTCCAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:195517983_195517984insTTCTCTCCAA	ENST00000463781.3	-	2	926_927	c.467_468insTTGGAGAGAA	c.(466-468)acafs	p.-156fs	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Frame_Shift_Ins_p.-156fs	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	NA					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CAGTTCCTGCTGTTGATGTCTC	0.465		NA											False	0	False	3:195517983	0
TLR1	7096	broad.mit.edu	37	4	38798452	38798453	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:38798452_38798453insAT	ENST00000502213.2	-	3	2229_2230	c.2000_2001insAT	c.(1999-2001)tgcfs	p.C667fs	TLR1_ENST00000308979.2_Frame_Shift_Ins_p.C667fs			Q15399	TLR1_HUMAN	toll-like receptor 1	667	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TCTCATGAAGGCAAATCTGCAT	0.386		NA											False	0	True	4:38798452	0
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs141544276		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548		NA											False	1	True	4:40434705	0
SLC30A9	10463	broad.mit.edu	37	4	42003781	42003782	+	In_Frame_Ins	INS	-	-	TATATACTTTAATTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:42003781_42003782insTATATACTTTAATTT	ENST00000264451.6	+	2	438_439	c.258_259insTATATACTTTAATTT	c.(259-261)cca>TATATACTTTAATTTcca	p.86_87insYIL*F		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	86					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGGAAAAAGTACCATCATTTGA	0.337		NA											False	0	False	4:42003781	0
ADC	113451	broad.mit.edu	37	1	33558973	33558974	+	In_Frame_Ins	INS	-	-	CGC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:33558973_33558974insCGC	ENST00000294517.6	+	7	1130_1131	c.543_544insCGC	c.(544-546)ctt>CGCctt	p.181_182insR	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_In_Frame_Ins_p.181_182insR|ADC_ENST00000373441.1_In_Frame_Ins_p.181_182insR|ADC_ENST00000358680.3_Intron|ADC_ENST00000398167.1_In_Frame_Ins_p.181_182insR|ADC_ENST00000373440.1_Intron	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	181					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	GCAGACACCTGCTTGAAAATGC	0.564		NA											False	0	False	1:33558973	0
UGT2B10	7365	broad.mit.edu	37	4	69681925	69681926	+	Frame_Shift_Ins	INS	-	-	CCAGTCACTGTTTCTTTCTCATACTTATA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:69681925_69681926insCCAGTCACTGTTTCTTTCTCATACTTATA	ENST00000265403.7	+	1	215_216	c.188_189insCCAGTCACTGTTTCTTTCTCATACTTATA	c.(187-192)tttgatfs	p.D64fs	UGT2B10_ENST00000458688.2_Frame_Shift_Ins_p.D64fs	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	64					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TCCATTCTTTTTGATCCCAACG	0.371		NA											False	0	True	4:69681925	0
AFF1	4299	broad.mit.edu	37	4	87967962	87967963	+	In_Frame_Ins	INS	-	-	AAAAGGAGAATT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:87967962_87967963insAAAAGGAGAATT	ENST00000307808.6	+	3	674_675	c.254_255insAAAAGGAGAATT	c.(253-258)aatagg>aaAAAAGGAGAATTtagg	p.85_85N>KKGEF	AFF1_ENST00000395146.4_In_Frame_Ins_p.92_92N>KKGEF|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	85						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCTTCTGAAAATAGGTTGGGAA	0.46		NA											False	0	True	4:87967962	0
DSPP	1834	broad.mit.edu	37	4	88535457	88535458	+	Frame_Shift_Ins	INS	-	-	GTTATAAGAAGCATCTCCTCGGCTAC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:88535457_88535458insGTTATAAGAAGCATCTCCTCGGCTAC	ENST00000282478.7	+	4	1676_1677	c.1643_1644insGTTATAAGAAGCATCTCCTCGGCTAC	c.(1642-1647)gatagcfs	p.DS548fs	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Frame_Shift_Ins_p.DS548fs			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	548	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GGTAAATCAgatagcagtgaca	0.411		NA											False	0	False	4:88535457	0
LEF1	51176	broad.mit.edu	37	4	108985512	108985513	+	Frame_Shift_Ins	INS	-	-	CTTTTAAAAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:108985512_108985513insCTTTTAAAAA	ENST00000265165.1	-	10	1798_1799	c.1144_1145insTTTTTAAAAG	c.(1144-1146)aaafs	p.K382fs	LEF1_ENST00000503879.1_5'UTR|LEF1_ENST00000510624.1_Frame_Shift_Ins_p.K286fs|LEF1_ENST00000379951.2_Frame_Shift_Ins_p.K354fs|LEF1_ENST00000438313.2_Frame_Shift_Ins_p.K354fs	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	382					canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TTCCTGTAGTTTCTCTCTCTTC	0.431		NA											False	0	True	4:108985512	0
EGF	1950	broad.mit.edu	37	4	110864539	110864540	+	In_Frame_Ins	INS	-	-	ACAACAAAATTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:110864539_110864540insACAACAAAATTA	ENST00000509793.1	+	3	909_910	c.457_458insACAACAAAATTA	c.(457-459)ctt>cACAACAAAATTAtt	p.153_153L>HNKII	EGF_ENST00000265171.5_In_Frame_Ins_p.153_153L>HNKII|EGF_ENST00000503392.1_In_Frame_Ins_p.153_153L>HNKII|EGF_ENST00000502723.1_3'UTR	NM_001178131.1	NP_001171602.1	P01133	EGF_HUMAN	epidermal growth factor	153					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTCCCACATTCTTTTAAGTGCT	0.307		NA											False	0	True	4:110864539	0
SYNPO2	171024	broad.mit.edu	37	4	119947962	119947964	+	In_Frame_Del	DEL	AAG	AAG	-	rs79987100		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	AAG	AAG	-	-	AAG	AAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:119947962_119947964delAAG	ENST00000307142.4	+	3	634_636	c.438_440delAAG	c.(436-441)caaaga>caa	p.R147del	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_In_Frame_Del_p.R147del|SYNPO2_ENST00000434046.2_In_Frame_Del_p.R147del	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	147				Missing (in Ref. 2; AL832031).		nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTGAGAACCAAAGAAGTGGTCCC	0.552		NA											False	2	True	4:119947962	0
USP53	54532	broad.mit.edu	37	4	120181068	120181069	+	In_Frame_Ins	INS	-	-	GAACTTAAAACTTTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:120181068_120181069insGAACTTAAAACTTTA	ENST00000274030.6	+	10	1842_1843	c.663_664insGAACTTAAAACTTTA	c.(664-666)agg>GAACTTAAAACTTTAagg	p.221_222insELKTL	USP53_ENST00000450251.1_In_Frame_Ins_p.221_222insELKTL	NM_019050.2	NP_061923.2	Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	221					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						CAGATGACTATAGGAAATGTCC	0.322		NA											False	0	False	4:120181068	0
FAT4	79633	broad.mit.edu	37	4	126398422	126398423	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:126398422_126398423insA	ENST00000394329.3	+	13	12419_12420	c.12406_12407insA	c.(12406-12408)gagfs	p.E4136fs	FAT4_ENST00000335110.5_Frame_Shift_Ins_p.E2399fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4136	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTGTATAATGGAGTTTGCAGTC	0.431		NA											False	1	False	4:126398422	0
FAT4	79633	broad.mit.edu	37	4	126398424	126398425	+	In_Frame_Ins	INS	-	-	ATATAAATATTAGTGTCAAAAGATTACATT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:126398424_126398425insATATAAATATTAGTGTCAAAAGATTACATT	ENST00000394329.3	+	13	12421_12422	c.12408_12409insATATAAATATTAGTGTCAAAAGATTACATT	c.(12409-12411)ttt>ATATAAATATTAGTGTCAAAAGATTACATTttt	p.4136_4137insI*ILVSKDYI	FAT4_ENST00000335110.5_In_Frame_Ins_p.2399_2400insI*ILVSKDYI	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4136	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTATAATGGAGTTTGCAGTCAA	0.426		NA											False	0	True	4:126398424	0
C4orf33	132321	broad.mit.edu	37	4	130030728	130030729	+	Frame_Shift_Ins	INS	-	-	GGGCTTACACTTTAAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:130030728_130030729insGGGCTTACACTTTAAA	ENST00000281146.4	+	5	1116_1117	c.395_396insGGGCTTACACTTTAAA	c.(394-399)ttcaatfs	p.FN132fs	C4orf33_ENST00000502887.1_Frame_Shift_Ins_p.FN132fs|C4orf33_ENST00000425929.1_Frame_Shift_Ins_p.FN132fs	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	132										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GTGACAAAATTCAATTCATTTG	0.386		NA											False	0	True	4:130030728	0
ETFDH	2110	broad.mit.edu	37	4	159603486	159603487	+	In_Frame_Ins	INS	-	-	TAAAAATTCTGG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:159603486_159603487insTAAAAATTCTGG	ENST00000307738.5	+	2	292_293	c.174_175insTAAAAATTCTGG	c.(175-177)gct>TAAAAATTCTGGgct	p.58_59ins*KFW	ETFDH_ENST00000511912.1_In_Frame_Ins_p.105_106ins*KFW			Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	105					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TAGTGGAGAAAGCTGCCCAGAT	0.495		NA											False	0	True	4:159603486	0
LRP2BP	55805	broad.mit.edu	37	4	186299395	186299396	+	Translation_Start_Site	INS	-	-	CCTGATATTTAAGCTTCCCTTGGAAAACACTTTAACAGTTCA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:186299395_186299396insCCTGATATTTAAGCTTCCCTTGGAAAACACTTTAACAGTTCA	ENST00000328559.7	-	0	756_757				LRP2BP_ENST00000362004.3_De_novo_Start_InFrame|LRP2BP_ENST00000510776.1_De_novo_Start_InFrame|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Intron	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	NA						cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		GTGGTAGAAATTTCTTCCTCCA	0.416		NA											False	0	True	4:186299395	0
PKD2	5311	broad.mit.edu	37	4	88996747	88996748	+	Frame_Shift_Ins	INS	-	-	AATCTGTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:88996747_88996748insAATCTGTA	ENST00000508588.1	+	10	1457_1458	c.1062_1063insAATCTGTA	c.(1063-1065)ggtfs	p.G355fs	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Frame_Shift_Ins_p.G355fs|PKD2_ENST00000237596.2_Frame_Shift_Ins_p.G937fs			Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	937						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TGGGACTAAATGGTCAACCTCG	0.52		NA											False	0	False	4:88996747	0
CLDN22	53842	broad.mit.edu	37	4	184240911	184240912	+	Frame_Shift_Ins	INS	-	-	CTGTTCA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:184240911_184240912insCTGTTCA	ENST00000323319.5	-	1	1015_1016	c.460_461insTGAACAG	c.(460-462)ccafs	p.P154fs	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	154					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GACAAAGTCTGGGACGTTCTCA	0.594		NA											False	0	True	4:184240911	0
MTNR1A	4543	broad.mit.edu	37	4	187455491	187455492	+	Frame_Shift_Ins	INS	-	-	TCCCCATGATCATAGTCATCTTCTGT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:187455491_187455492insTCCCCATGATCATAGTCATCTTCTGT	ENST00000307161.5	-	2	605_606	c.404_405insACAGAAGATGACTATGATCATGGGGA	c.(403-405)tacfs	p.Y135fs	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	135					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	ACAGTTTGTCGTACTTGAGACT	0.579		NA											False	0	False	4:187455491	0
ADCY2	108	broad.mit.edu	37	5	7706988	7706989	+	In_Frame_Ins	INS	-	-	TTTTCCCAGTATTTTATTATT	rs75986905	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:7706988_7706989insTTTTCCCAGTATTTTATTATT	ENST00000338316.4	+	8	1330_1331	c.1241_1242insTTTTCCCAGTATTTTATTATT	c.(1240-1245)aaccac>aaTTTTCCCAGTATTTTATTATTccac	p.414_415NH>NFPSILLFH	ADCY2_ENST00000537121.1_In_Frame_Ins_p.234_235NH>NFPSILLFH	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	414					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACCTTGGCCAACCACATGGAAG	0.5		NA											False	0	False	5:7706988	0
TAS2R1	50834	broad.mit.edu	37	5	9629445	9629446	+	In_Frame_Ins	INS	-	-	TTCAAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:9629445_9629446insTTCAAA	ENST00000382492.2	-	1	1017_1018	c.699_700insTTTGAA	c.(697-702)ttcctg>ttcTTTGAActg	p.233_234FL>FFEL	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	233					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TAGAGGATCAGGAAGGACAGGA	0.505		NA											False	0	True	5:9629445	0
NIPBL	25836	broad.mit.edu	37	5	36985240	36985241	+	In_Frame_Ins	INS	-	-	GGT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:36985240_36985241insGGT	ENST00000282516.8	+	10	2457_2458	c.1958_1959insGGT	c.(1957-1962)cagaat>caGGTgaat	p.653_654QN>QVN	NIPBL_ENST00000448238.2_In_Frame_Ins_p.653_654QN>QVN|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	653					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAACTTAAACAGAATGAGAGCA	0.351		NA											False	0	False	5:36985240	0
MROH2B	133558	broad.mit.edu	37	5	41061821	41061822	+	Frame_Shift_Ins	INS	-	-	TTCTCTTTGTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:41061821_41061822insTTCTCTTTGTG	ENST00000399564.4	-	6	915_916	c.465_466insCACAAAGAGAA	c.(463-468)cttgagfs	p.E156fs		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B	NA											NA						CTGAATTTCTCAAGGGCTGCAT	0.401		NA											False	0	False	5:41061821	0
MROH2B	133558	broad.mit.edu	37	5	41061822	41061823	+	Frame_Shift_Ins	INS	-	-	CATGATAATT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:41061822_41061823insCATGATAATT	ENST00000399564.4	-	6	914_915	c.464_465insAATTATCATG	c.(463-465)cttfs	p.-155fs		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B	NA											NA						TGAATTTCTCAAGGGCTGCATT	0.401		NA											False	0	True	5:41061822	0
C5orf51	285636	broad.mit.edu	37	5	41917303	41917304	+	Frame_Shift_Ins	INS	-	-	GAAACCGT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:41917303_41917304insGAAACCGT	ENST00000381647.2	+	6	806_807	c.787_788insGAAACCGT	c.(787-789)aagfs	p.K263fs		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	263										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AATCTTGAAAAAGTATGTATCT	0.386		NA											False	0	True	5:41917303	0
C5orf51	285636	broad.mit.edu	37	5	41917305	41917306	+	Frame_Shift_Ins	INS	-	-	TTATTAAC	rs149416451		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:41917305_41917306insTTATTAAC	ENST00000381647.2	+	6	808_809	c.789_790insTTATTAAC	c.(790-792)tatfs	p.Y264fs		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	264										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCTTGAAAAAGTATGTATCTGT	0.386		NA											False	0	True	5:41917305	0
ZNF131	7690	broad.mit.edu	37	5	43174940	43174941	+	Frame_Shift_Ins	INS	-	-	CGCTCTGAAAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:43174940_43174941insCGCTCTGAAAT	ENST00000509634.1	+	7	1931_1932	c.1475_1476insCGCTCTGAAAT	c.(1474-1479)gaagtgfs	p.EV492fs	ZNF131_ENST00000509156.1_Frame_Shift_Ins_p.EV526fs|ZNF131_ENST00000399534.1_Frame_Shift_Ins_p.EV526fs|ZNF131_ENST00000505606.2_Frame_Shift_Ins_p.EV492fs|ZNF131_ENST00000306938.4_Frame_Shift_Ins_p.EV492fs|ZNF131_ENST00000509931.1_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	526						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AGTTATCTAGAAGTGGGCCGAA	0.485		NA											False	0	False	5:43174940	0
SLC38A9	153129	broad.mit.edu	37	5	54929718	54929719	+	Frame_Shift_Ins	INS	-	-	TAAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:54929718_54929719insTAAA	ENST00000512595.1	-	12	1279_1280	c.1104_1105insTTTA	c.(1102-1107)gacaacfs	p.N369fs	SLC38A9_ENST00000318672.3_Frame_Shift_Ins_p.N432fs|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000396865.2_Frame_Shift_Ins_p.N432fs|SLC38A9_ENST00000515629.1_Frame_Shift_Ins_p.N369fs|SLC38A9_ENST00000416547.2_Frame_Shift_Ins_p.N308fs	NM_001258287.1	NP_001245216.1	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	432					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				CTAGGGAAGTTGTCTAAAAAAT	0.386		NA											False	0	False	5:54929718	0
SLC38A9	153129	broad.mit.edu	37	5	54929720	54929721	+	Frame_Shift_Ins	INS	-	-	GTGA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:54929720_54929721insGTGA	ENST00000512595.1	-	12	1277_1278	c.1102_1103insTCAC	c.(1102-1104)gacfs	p.D368fs	SLC38A9_ENST00000318672.3_Frame_Shift_Ins_p.D431fs|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000396865.2_Frame_Shift_Ins_p.D431fs|SLC38A9_ENST00000515629.1_Frame_Shift_Ins_p.D368fs|SLC38A9_ENST00000416547.2_Frame_Shift_Ins_p.D307fs	NM_001258287.1	NP_001245216.1	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	431					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AGGGAAGTTGTCTAAAAAATTC	0.386		NA											False	0	False	5:54929720	0
DDX4	54514	broad.mit.edu	37	5	55075881	55075882	+	Frame_Shift_Ins	INS	-	-	AAATTTAATT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:55075881_55075882insAAATTTAATT	ENST00000505374.1	+	8	576_577	c.484_485insAAATTTAATT	c.(484-486)ctafs	p.L162fs	DDX4_ENST00000514278.2_Frame_Shift_Ins_p.L142fs|DDX4_ENST00000511853.1_Intron|DDX4_ENST00000353507.5_Intron|DDX4_ENST00000354991.5_Intron	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	162	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AGGATTTGGTCTAGGAAGTCCA	0.371		NA											False	0	False	5:55075881	0
BDP1	55814	broad.mit.edu	37	5	70805614	70805615	+	In_Frame_Ins	INS	-	-	GACTTGGTTAAGTTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:70805614_70805615insGACTTGGTTAAGTTT	ENST00000358731.4	+	17	2958_2959	c.2695_2696insGACTTGGTTAAGTTT	c.(2695-2697)gag>gGACTTGGTTAAGTTTag	p.899_899E>GLG*V*	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	899	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CATAGAAATGGAGACAGGTCTG	0.406		NA											False	0	False	5:70805614	0
POLR3G	10622	broad.mit.edu	37	5	89802405	89802406	+	In_Frame_Ins	INS	-	-	TTTACT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:89802405_89802406insTTTACT	ENST00000399107.1	+	7	699_700	c.499_500insTTTACT	c.(499-501)agc>aTTTACTgc	p.167_167S>IYC	POLR3G_ENST00000504930.1_In_Frame_Ins_p.167_167S>IYC	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	167	Glu-rich.				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA-directed RNA polymerase activity			cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		gaaagaaggaagcaaagagaaa	0.376		NA											False	0	True	5:89802405	0
GPR98	84059	broad.mit.edu	37	5	90086832	90086833	+	Frame_Shift_Ins	INS	-	-	AAACTCAACAAAG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:90086832_90086833insAAACTCAACAAAG	ENST00000405460.2	+	70	14282_14283	c.14186_14187insAAACTCAACAAAG	c.(14185-14190)gattatfs	p.DY4729fs	GPR98_ENST00000425867.2_Frame_Shift_Ins_p.DY390fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4729	Calx-beta 32.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATAGAGGAAGATTATGTGATCC	0.441		NA											False	0	False	5:90086832	0
PCDHGB3	0	broad.mit.edu	37	5	140750973	140750974	+	In_Frame_Ins	INS	-	-	CGG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:140750973_140750974insCGG	ENST00000576222.1	+	1	1143_1144	c.1012_1013insCGG	c.(1012-1014)tca>tCGGca	p.338_339insA	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1				NA										endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAGATATTTCAGATGAAAAT	0.446		NA											False	0	True	5:140750973	0
SPINK5	11005	broad.mit.edu	37	5	147498129	147498130	+	Splice_Site	INS	-	-	TTTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:147498129_147498130insTTTG	ENST00000359874.3	+	23	2313		c.e23+2		SPINK5_ENST00000398454.1_Splice_Site|SPINK5_ENST00000256084.7_Splice_Site	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	NA					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAAAATTGTAAGTATTTCTC	0.386		NA											False	0	False	5:147498129	0
KIF4B	285643	broad.mit.edu	37	5	154395088	154395089	+	In_Frame_Ins	INS	-	-	GGCTGC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:154395088_154395089insGGCTGC	ENST00000435029.4	+	1	1829_1830	c.1669_1670insGGCTGC	c.(1669-1671)tac>tGGCTGCac	p.557_557Y>WLH		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	557					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCAGTTTCAATACCAGGATAAC	0.401		NA											False	0	False	5:154395088	0
KIF4B	285643	broad.mit.edu	37	5	154395089	154395090	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:154395089_154395090insG	ENST00000435029.4	+	1	1830_1831	c.1670_1671insG	c.(1669-1674)taccagfs	p.YQ557fs		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	557					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTTTCAATACCAGGATAACA	0.406		NA											False	0	False	5:154395089	0
DRD1	1812	broad.mit.edu	37	5	174869195	174869196	+	Frame_Shift_Ins	INS	-	-	ATGT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:174869195_174869196insATGT	ENST00000393752.2	-	2	1899_1900	c.907_908insACAT	c.(907-909)acgfs	p.T303fs		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	303					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GAAGGGCTGCGTCTCCCCAGAC	0.475		NA											False	0	False	5:174869195	0
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433		NA											False	1	False	6:7393450	0
DSP	1832	broad.mit.edu	37	6	7579947	7579948	+	In_Frame_Ins	INS	-	-	TTCTTTTATTTGGCCGTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:7579947_7579948insTTCTTTTATTTGGCCGTA	ENST00000379802.3	+	23	3865_3866	c.3524_3525insTTCTTTTATTTGGCCGTA	c.(3523-3528)agggtt>agTTCTTTTATTTGGCCGTAggtt	p.1175_1175R>SSFIWP*	DSP_ENST00000418664.2_In_Frame_Ins_p.1175_1175R>SSFIWP*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1175	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAAAGGTTGAGGGTTCTACTGC	0.431		NA											False	0	True	6:7579947	0
PRL	5617	broad.mit.edu	37	6	22287805	22287806	+	Frame_Shift_Ins	INS	-	-	GAGAAGG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:22287805_22287806insGAGAAGG	ENST00000306482.1	-	5	1027_1028	c.509_510insCCTTCTC	c.(508-510)aaafs	p.K170fs	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	170					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TCTCATTTTCTTTGGTTTCAGG	0.391		NA											False	0	True	6:22287805	0
PRL	5617	broad.mit.edu	37	6	22287806	22287807	+	In_Frame_Ins	INS	-	-	CCTTAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:22287806_22287807insCCTTAA	ENST00000306482.1	-	5	1026_1027	c.508_509insTTAAGG	c.(508-510)aaa>aTTAAGGaa	p.170_170K>IKE	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	170					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CTCATTTTCTTTGGTTTCAGGA	0.386		NA											False	0	True	6:22287806	0
PGBD1	84547	broad.mit.edu	37	6	28269868	28269869	+	In_Frame_Ins	INS	-	-	CTCATTGTTTTC	rs115398017	by1000genomes	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:28269868_28269869insCTCATTGTTTTC	ENST00000405948.2	+	7	2657_2658	c.2237_2238insCTCATTGTTTTC	c.(2236-2241)atttcg>atCTCATTGTTTTCttcg	p.747_748insLFSS	PGBD1_ENST00000259883.3_In_Frame_Ins_p.747_748insLFSS	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	747					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						GATCAAATTATTTCGAAATACA	0.381		NA											False	0	True	6:28269868	0
TRIM39	56658	broad.mit.edu	37	6	30297278	30297279	+	Frame_Shift_Ins	INS	-	-	AAATAAAAATATTAATT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:30297278_30297279insAAATAAAAATATTAATT	ENST00000376659.5	+	3	782_783	c.184_185insAAATAAAAATATTAATT	c.(184-186)aggfs	p.R62fs	TRIM39_ENST00000396551.3_Frame_Shift_Ins_p.R62fs|TRIM39_ENST00000396547.1_Frame_Shift_Ins_p.R62fs|TRIM39_ENST00000540416.1_Frame_Shift_Ins_p.R62fs|TRIM39_ENST00000376656.4_Frame_Shift_Ins_p.R62fs|TRIM39_ENST00000396548.1_Frame_Shift_Ins_p.R62fs	NM_172016.2	NP_742013.1			tripartite motif containing 39	NA										ovary(3)	3						GGACCTAGAGAGGGACTTCCCT	0.545		NA											False	0	True	6:30297278	0
ZNF318	24149	broad.mit.edu	37	6	43322608	43322609	+	In_Frame_Ins	INS	-	-	AAATTTGTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:43322608_43322609insAAATTTGTA	ENST00000361428.2	-	4	2540_2541	c.2463_2464insTACAAATTT	c.(2461-2466)ataatg>ataTACAAATTTatg	p.821_822IM>IYKFM	ZNF318_ENST00000318149.3_In_Frame_Ins_p.821_822IM>IYKFM	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	821					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GTTATTGGCATTATCCTGTGTG	0.51		NA											False	0	False	6:43322608	0
TDRD6	221400	broad.mit.edu	37	6	46657989	46657990	+	Frame_Shift_Ins	INS	-	-	TCTTTTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:46657989_46657990insTCTTTTT	ENST00000316081.6	+	1	2124_2125	c.2124_2125insTCTTTTT	c.(2125-2127)aaafs	p.K709fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.K709fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	709					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAGGAGAGCAGAAAGCCAAGAG	0.406		NA											False	0	True	6:46657989	0
PHF3	23469	broad.mit.edu	37	6	64401885	64401886	+	In_Frame_Ins	INS	-	-	TGG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:64401885_64401886insTGG	ENST00000262043.3	+	5	2788_2789	c.2448_2449insTGG	c.(2449-2451)aaa>TGGaaa	p.816_817insW	PHF3_ENST00000393387.1_In_Frame_Ins_p.816_817insW			Q92576	PHF3_HUMAN	PHD finger protein 3	816					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATGATAGAACCAAATATATAGA	0.317		NA											False	0	True	6:64401885	0
FHL5	9457	broad.mit.edu	37	6	97058549	97058550	+	In_Frame_Ins	INS	-	-	ATTCTTTTGAGATCCTAGTATCTC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:97058549_97058550insATTCTTTTGAGATCCTAGTATCTC	ENST00000326771.2	+	6	986_987	c.606_607insATTCTTTTGAGATCCTAGTATCTC	c.(607-609)tcc>ATTCTTTTGAGATCCTAGTATCTCtcc	p.202_203insILLRS*YL	FHL5_ENST00000541107.1_In_Frame_Ins_p.202_203insILLRS*YL	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	202	LIM zinc-binding 3.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AACAGTTCATGTCCAGAGACGA	0.436		NA											False	0	False	6:97058549	0
USP45	85015	broad.mit.edu	37	6	99936632	99936633	+	Frame_Shift_Ins	INS	-	-	TTTGTTTA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:99936632_99936633insTTTGTTTA	ENST00000327681.6	-	6	1074_1075	c.542_543insTAAACAAA	c.(541-543)ggafs	p.-181fs	USP45_ENST00000472914.2_Frame_Shift_Ins_p.-181fs|USP45_ENST00000329966.5_Frame_Shift_Ins_p.-181fs|USP45_ENST00000369233.2_Frame_Shift_Ins_p.-181fs|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000500704.2_Frame_Shift_Ins_p.-181fs	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	NA					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TGCATTTTCCTCCCTTCTGTAT	0.317		NA											False	0	True	6:99936632	0
LIN28B	389421	broad.mit.edu	37	6	105406148	105406149	+	Frame_Shift_Ins	INS	-	-	GCATTCAAAG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:105406148_105406149insGCATTCAAAG	ENST00000345080.4	+	2	388_389	c.185_186insGCATTCAAAG	c.(184-189)gtatttfs	p.F63fs		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	63	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CCAGTCGATGTATTTGTACACC	0.46		NA											False	0	True	6:105406148	0
ARMC2	84071	broad.mit.edu	37	6	109225509	109225510	+	Frame_Shift_Ins	INS	-	-	CTTC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:109225509_109225510insCTTC	ENST00000392644.4	+	8	1092_1093	c.924_925insCTTC	c.(925-927)aaafs	p.K309fs	ARMC2_ENST00000368972.3_Frame_Shift_Ins_p.K144fs	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	309							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TGCTTGGAAATAAATTTAAGGG	0.391		NA											False	0	True	6:109225509	0
GPRC6A	0	broad.mit.edu	37	6	117116998	117116999	+	Splice_Site	DEL	GC	GC	-	rs78807485		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:117116998_117116999delGC	ENST00000310357.3	-	5	1570	c.1549delGC	c.(1549-1551)gca>ca	p.A517fs	GPRC6A_ENST00000530250.1_Splice_Site_p.A342fs|GPRC6A_ENST00000368549.3_Splice_Site_p.A446fs	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	517					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GATTGAATTTGCTATATTAAAA	0.302		NA											False	1	False	6:117116998	0
THEMIS	387357	broad.mit.edu	37	6	128134170	128134171	+	Frame_Shift_Ins	INS	-	-	TGCAATGA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:128134170_128134171insTGCAATGA	ENST00000368250.1	-	5	1876_1877	c.1378_1379insTCATTGCA	c.(1378-1380)caafs	p.Q460fs	THEMIS_ENST00000543064.1_Frame_Shift_Ins_p.Q539fs|THEMIS_ENST00000368248.2_Frame_Shift_Ins_p.Q539fs|THEMIS_ENST00000537166.1_Frame_Shift_Ins_p.Q504fs			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	539	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.Q539K(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CATGTAATATTGCTCTTCAGTG	0.465		NA											False	0	False	6:128134170	0
L3MBTL3	84456	broad.mit.edu	37	6	130370494	130370495	+	In_Frame_Ins	INS	-	-	GTGCTCAGGAAAGTCATTAATTATTTAATGGCTGACACATAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:130370494_130370495insGTGCTCAGGAAAGTCATTAATTATTTAATGGCTGACACATAT	ENST00000529410.1	+	6	649_650	c.170_171insGTGCTCAGGAAAGTCATTAATTATTTAATGGCTGACACATAT	c.(169-174)aaagca>aaGTGCTCAGGAAAGTCATTAATTATTTAATGGCTGACACATATagca	p.57_58KA>KCSGKSLII*WLTHIA	L3MBTL3_ENST00000368139.2_In_Frame_Ins_p.57_58KA>KCSGKSLII*WLTHIA|L3MBTL3_ENST00000533560.1_In_Frame_Ins_p.57_58KA>KCSGKSLII*WLTHIA|L3MBTL3_ENST00000368136.2_In_Frame_Ins_p.57_58KA>KCSGKSLII*WLTHIA|L3MBTL3_ENST00000526019.1_In_Frame_Ins_p.57_58KA>KCSGKSLII*WLTHIA|L3MBTL3_ENST00000361794.2_In_Frame_Ins_p.57_58KA>KCSGKSLII*WLTHIA			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	57					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AATGTTAAAAAAGCAACTGCTA	0.371		NA											False	0	True	6:130370494	0
CCDC170	80129	broad.mit.edu	37	6	151936742	151936743	+	Frame_Shift_Ins	INS	-	-	ACAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:151936742_151936743insACAA	ENST00000239374.7	+	10	1974_1975	c.1875_1876insACAA	c.(1876-1878)atafs	p.I626fs	CCDC170_ENST00000367290.5_Frame_Shift_Ins_p.I633fs	NM_025059.3	NP_079335.2	Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	626											NA						CCAGAAACATGATAGAAGTGGT	0.406		NA											False	0	False	6:151936742	0
CCDC170	80129	broad.mit.edu	37	6	151936744	151936745	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:151936744_151936745insC	ENST00000239374.7	+	10	1976_1977	c.1877_1878insC	c.(1876-1881)atagaafs	p.E627fs	CCDC170_ENST00000367290.5_Frame_Shift_Ins_p.E634fs	NM_025059.3	NP_079335.2	Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	627											NA						AGAAACATGATAGAAGTGGTAA	0.401		NA											False	0	False	6:151936744	0
SCAF8	22828	broad.mit.edu	37	6	155153893	155153894	+	Frame_Shift_Ins	INS	-	-	TTCTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:155153893_155153894insTTCTG	ENST00000367178.3	+	20	3756_3757	c.3180_3181insTTCTG	c.(3181-3183)ggafs	p.G1061fs	SCAF8_ENST00000417268.1_Frame_Shift_Ins_p.G1061fs|TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000367186.4_Frame_Shift_Ins_p.G1127fs	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1061	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						GGGATCATTTTGGAAGACCTCC	0.495		NA											False	0	True	6:155153893	0
IGF2R	3482	broad.mit.edu	37	6	160464224	160464225	+	Frame_Shift_Ins	INS	-	-	GCACAAAAATTCAC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:160464224_160464225insGCACAAAAATTCAC	ENST00000356956.1	+	12	1673_1674	c.1525_1526insGCACAAAAATTCAC	c.(1525-1527)acafs	p.T509fs		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	509					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TCAGACGGAAACAGAGAAGAAG	0.47		NA											False	0	True	6:160464224	0
C1GALT1	56913	broad.mit.edu	37	7	7283351	7283352	+	Frame_Shift_Ins	INS	-	-	CAGGTATTGTTAATAAACAGCACATTGCTAGC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:7283351_7283352insCAGGTATTGTTAATAAACAGCACATTGCTAGC	ENST00000223122.2	+	3	1147_1148	c.1085_1086insCAGGTATTGTTAATAAACAGCACATTGCTAGC	c.(1084-1089)aatcctfs	p.P363fs	C1GALT1_ENST00000436587.2_Frame_Shift_Ins_p.P363fs			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	363					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AAGTTAGGAAATCCTTGAAAGA	0.342		NA											False	0	True	7:7283351	0
COL28A1	340267	broad.mit.edu	37	7	7398398	7398399	+	Frame_Shift_Ins	INS	-	-	CAATACAAATACAGCACTATATTTGAGTGTATACTGAGTATTTACAACTTAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:7398398_7398399insCAATACAAATACAGCACTATATTTGAGTGTATACTGAGTATTTACAACTTAT	ENST00000399429.3	-	35	3383_3384	c.3243_3244insATAAGTTGTAAATACTCAGTATACACTCAAATATAGTGCTGTATTTGTATTG	c.(3241-3246)tgtggtfs	p.CG1081fs		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	1081	BPTI/Kunitz inhibitor.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACATATTCACCACAGTTTCCAG	0.391		NA											False	0	False	7:7398398	0
ITGB8	3696	broad.mit.edu	37	7	20418768	20418769	+	Frame_Shift_Ins	INS	-	-	CATCACA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:20418768_20418769insCATCACA	ENST00000222573.3	+	4	1167_1168	c.483_484insCATCACA	c.(484-486)aatfs	p.N162fs	ITGB8_ENST00000537992.1_Frame_Shift_Ins_p.N27fs	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	162	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CAATGCACAATAATATAGAAAA	0.347		NA											False	0	False	7:20418768	0
TAX1BP1	8887	broad.mit.edu	37	7	27856107	27856108	+	In_Frame_Ins	INS	-	-	AAATATTTCATAAATACAGCAGTATTAAACATT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:27856107_27856108insAAATATTTCATAAATACAGCAGTATTAAACATT	ENST00000396319.2	+	14	1992_1993	c.1904_1905insAAATATTTCATAAATACAGCAGTATTAAACATT	c.(1903-1908)tatggt>taAAATATTTCATAAATACAGCAGTATTAAACATTtggt	p.635_635Y>*NIS*IQQY*TF	TAX1BP1_ENST00000433216.2_Intron|TAX1BP1_ENST00000543117.1_Intron|TAX1BP1_ENST00000265393.6_Intron|TAX1BP1_ENST00000409980.1_In_Frame_Ins_p.659_659Y>*NIS*IQQY*TF	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	635					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GTTCTGCAATATGGTAATCCTT	0.366		NA											False	0	False	7:27856107	0
BMPER	168667	broad.mit.edu	37	7	34125581	34125582	+	In_Frame_Ins	INS	-	-	CTTGAGATG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:34125581_34125582insCTTGAGATG	ENST00000297161.2	+	14	1996_1997	c.1622_1623insCTTGAGATG	c.(1621-1626)ccagtg>ccCTTGAGATGagtg	p.541_542PV>PLR*V	BMPER_ENST00000426693.1_In_Frame_Ins_p.541_542PV>PLR*V	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	541	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CAGAGAAAGCCAGTGCCTGAAC	0.49		NA											False	0	False	7:34125581	0
CDK13	8621	broad.mit.edu	37	7	40102653	40102654	+	Frame_Shift_Ins	INS	-	-	ACAGAAAACAGTCTTTAGAGTTAGTATTTGTTGGAGTAAGA	rs138286408		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:40102653_40102654insACAGAAAACAGTCTTTAGAGTTAGTATTTGTTGGAGTAAGA	ENST00000181839.4	+	9	3339_3340	c.2734_2735insACAGAAAACAGTCTTTAGAGTTAGTATTTGTTGGAGTAAGA	c.(2734-2736)cctfs	p.P912fs	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Frame_Shift_Ins_p.P912fs	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	912	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CACTAAAAAACCTATATTTCAA	0.347		NA											False	0	False	7:40102653	0
PPIA	5478	broad.mit.edu	37	7	44839374	44839375	+	In_Frame_Ins	INS	-	-	TAAACC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:44839374_44839375insTAAACC	ENST00000468812.1	+	4	308_309	c.263_264insTAAACC	c.(262-267)ttcatc>ttTAAACCcatc	p.88_89FI>FKPI	PPIA_ENST00000355968.6_In_Frame_Ins_p.28_29FI>FKPI|PPIA_ENST00000480603.1_3'UTR|PPIA_ENST00000451562.1_In_Frame_Ins_p.88_89FI>FKPI|PPIA_ENST00000489459.1_In_Frame_Ins_p.28_29FI>FKPI	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN	peptidylprolyl isomerase A (cyclophilin A)	88	PPIase cyclophilin-type.				entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|RNA-dependent DNA replication|uncoating of virus	cytosol|extracellular region|nucleus	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	GATGAGAACTTCATCCTAAAGC	0.465		NA											False	0	False	7:44839374	0
PPIA	5478	broad.mit.edu	37	7	44839376	44839377	+	Frame_Shift_Ins	INS	-	-	AGTTCAAACTGAATAGAAGGGTTAAATAGAACCGAAATGG	rs17850033		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:44839376_44839377insAGTTCAAACTGAATAGAAGGGTTAAATAGAACCGAAATGG	ENST00000468812.1	+	4	310_311	c.265_266insAGTTCAAACTGAATAGAAGGGTTAAATAGAACCGAAATGG	c.(265-267)atcfs	p.I89fs	PPIA_ENST00000355968.6_Frame_Shift_Ins_p.I29fs|PPIA_ENST00000480603.1_3'UTR|PPIA_ENST00000451562.1_Frame_Shift_Ins_p.I89fs|PPIA_ENST00000489459.1_Frame_Shift_Ins_p.I29fs	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN	peptidylprolyl isomerase A (cyclophilin A)	89	PPIase cyclophilin-type.			I -> T (in Ref. 5; AAH05982).	entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|RNA-dependent DNA replication|uncoating of virus	cytosol|extracellular region|nucleus	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	TGAGAACTTCATCCTAAAGCAT	0.46		NA											False	0	False	7:44839376	0
KMT2E	55904	broad.mit.edu	37	7	104717571	104717572	+	Frame_Shift_Ins	INS	-	-	CTTACGGACTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:104717571_104717572insCTTACGGACTT	ENST00000311117.3	+	10	1475_1476	c.930_931insCTTACGGACTT	c.(931-933)aatfs	p.N311fs	KMT2E_ENST00000334877.4_Frame_Shift_Ins_p.N311fs|KMT2E_ENST00000257745.4_Frame_Shift_Ins_p.N311fs|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Frame_Shift_Ins_p.N311fs	NM_182931.2	NP_891847.1			lysine (K)-specific methyltransferase 2E	NA											NA						TAGGCAATGGAAATGACAAAAA	0.371		NA											False	0	True	7:104717571	0
RINT1	60561	broad.mit.edu	37	7	105187701	105187702	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:105187701_105187702insC	ENST00000257700.2	+	6	991_992	c.760_761insC	c.(760-762)ttafs	p.L254fs		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	254	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AACTGTTGGCTTAAGTCGACCT	0.426		NA											False	0	False	7:105187701	0
RINT1	60561	broad.mit.edu	37	7	105187702	105187703	+	Frame_Shift_Ins	INS	-	-	CATG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:105187702_105187703insCATG	ENST00000257700.2	+	6	992_993	c.761_762insCATG	c.(760-765)ttaagtfs	p.LS254fs		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	254	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACTGTTGGCTTAAGTCGACCTG	0.431		NA											False	0	False	7:105187702	0
PPP1R3A	5506	broad.mit.edu	37	7	113517921	113517922	+	Frame_Shift_Ins	INS	-	-	TTAACCCCAAACA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:113517921_113517922insTTAACCCCAAACA	ENST00000284601.3	-	4	3293_3294	c.3225_3226insTGTTTGGGGTTAA	c.(3223-3228)aaaatafs	p.I1076fs		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1076					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAATAAGGTATTTTAGAGTTGG	0.356		NA											False	0	True	7:113517921	0
OR2A14	135941	broad.mit.edu	37	7	143826730	143826732	+	In_Frame_Del	DEL	CTT	CTT	-	rs66549240		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:143826730_143826732delCTT	ENST00000408899.2	+	1	580_582	c.525_527delCTT	c.(523-528)cacttc>cac	p.F177del		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	177				Missing (in Ref. 2; AAK95081).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AAATCAACCACTTCTTCTGTGAA	0.562		NA											False	2	False	7:143826730	0
CDCA2	157313	broad.mit.edu	37	8	25364303	25364304	+	Frame_Shift_Ins	INS	-	-	TTTTTAGG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:25364303_25364304insTTTTTAGG	ENST00000330560.3	+	15	2598_2599	c.2121_2122insTTTTTAGG	c.(2122-2124)actfs	p.T708fs	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Frame_Shift_Ins_p.T693fs	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	708					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CAAAAGCTGGAACTGACAGTCC	0.371		NA											False	0	False	8:25364303	0
SDCBP	6386	broad.mit.edu	37	8	59488620	59488621	+	Splice_Site	INS	-	-	TAACTGGAACTTACTCA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:59488620_59488621insTAACTGGAACTTACTCA	ENST00000523483.1	+	6	1976	c.462_462insTAACTGGAACTTACTCA	c.(463-465)ggt>ggTAACTGGAACTTACTCAt	p.-155fs	SDCBP_ENST00000422546.2_Splice_Site_p.-134fs|SDCBP_ENST00000413219.2_Splice_Site_p.-135fs|SDCBP_ENST00000260130.4_Splice_Site_p.-135fs|SDCBP_ENST00000447182.2_Splice_Site_p.-134fs|SDCBP_ENST00000424270.2_Splice_Site_p.-129fs|SDCBP_ENST00000447267.2_Intron|SDCBP_ENST00000520168.1_Intron			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	NA					actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CAATAGATAATGTAAGTATTTT	0.267		NA											False	0	False	8:59488620	0
ADHFE1	137872	broad.mit.edu	37	8	67364291	67364292	+	In_Frame_Ins	INS	-	-	GATATATTATCT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:67364291_67364292insGATATATTATCT	ENST00000396623.3	+	9	869_870	c.838_839insGATATATTATCT	c.(838-840)gac>gGATATATTATCTac	p.280_280D>GYIIY	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_In_Frame_Ins_p.280_280D>GYIIY|ADHFE1_ENST00000415254.1_In_Frame_Ins_p.232_232D>GYIIY	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	280					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CCCAATCAGTGACATTTGGGCT	0.574		NA											False	0	False	8:67364291	0
MCMDC2	157777	broad.mit.edu	37	8	67786577	67786578	+	Frame_Shift_Ins	INS	-	-	AGATG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:67786577_67786578insAGATG	ENST00000422365.2	+	3	282_283	c.111_112insAGATG	c.(112-114)gctfs	p.A38fs	MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000313616.5_Frame_Shift_Ins_p.A38fs|MCMDC2_ENST00000396592.3_Frame_Shift_Ins_p.A38fs|MCMDC2_ENST00000492775.1_Frame_Shift_Ins_p.A38fs|MCMDC2_ENST00000541540.1_Intron	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	38					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						AACAAAGCTATGCTGTCTATCG	0.312		NA											False	0	False	8:67786577	0
ZHX1	11244	broad.mit.edu	37	8	124267956	124267957	+	Frame_Shift_Ins	INS	-	-	TGGTAGTTTTGTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:124267956_124267957insTGGTAGTTTTGTT	ENST00000522655.1	-	3	770_771	c.230_231insAACAAAACTACCA	c.(229-231)tttfs	p.F77fs	ZHX1_ENST00000395571.3_Frame_Shift_Ins_p.F77fs|ZHX1_ENST00000522595.1_5'UTR|ZHX1_ENST00000297857.2_Frame_Shift_Ins_p.F77fs|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	77					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGGAGTTTGAAAAGTACAATA	0.332		NA											False	0	True	8:124267956	0
PTK2	5747	broad.mit.edu	37	8	141774446	141774447	+	Frame_Shift_Ins	INS	-	-	TAAAAGTTATTGATACTTACTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:141774446_141774447insTAAAAGTTATTGATACTTACTG	ENST00000519465.1	-	1	175_176	c.4_5insCAGTAAGTATCAATAACTTTTA	c.(4-6)aaafs	p.K2fs	PTK2_ENST00000522684.1_Intron|PTK2_ENST00000520151.1_Frame_Shift_Ins_p.K2fs|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000519419.1_Intron			Q05397	FAK1_HUMAN	protein tyrosine kinase 2	0					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CTCCTGGTATTTCATATAATTA	0.332		NA											False	0	True	8:141774446	0
GBP3	2635	broad.mit.edu	37	1	89479062	89479063	+	Frame_Shift_Ins	INS	-	-	ACTCATTGTTAAAACTAAA	rs4656077	by1000genomes	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:89479062_89479063insACTCATTGTTAAAACTAAA	ENST00000370481.4	-	6	893_894	c.673_674insTTTAGTTTTAACAATGAGT	c.(673-675)cggfs	p.R225fs		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	225			R -> W (in dbSNP:rs4656077).			integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GAAGAACTTCCGGATACAGAGT	0.401		NA											False	0	False	1:89479062	0
GBP5	115362	broad.mit.edu	37	1	89732222	89732223	+	Frame_Shift_Ins	INS	-	-	AATTTAA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:89732222_89732223insAATTTAA	ENST00000370459.3	-	6	801_802	c.674_675insTTAAATT	c.(673-675)cagfs	p.Q225fs	GBP5_ENST00000343435.5_Frame_Shift_Ins_p.Q225fs|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	225						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GAAAGAACTTCTGTATACACAG	0.366		NA											False	0	False	1:89732222	0
SMARCA2	6595	broad.mit.edu	37	9	2161789	2161790	+	Frame_Shift_Ins	INS	-	-	TATTTAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:2161789_2161790insTATTTAT	ENST00000382203.1	+	28	4294_4295	c.4085_4086insTATTTAT	c.(4084-4089)gaaaaafs	p.E1362fs	SMARCA2_ENST00000382186.1_Frame_Shift_Ins_p.E26fs|SMARCA2_ENST00000382185.1_Frame_Shift_Ins_p.E26fs|SMARCA2_ENST00000349721.2_Frame_Shift_Ins_p.E1362fs|SMARCA2_ENST00000357248.2_Frame_Shift_Ins_p.E1362fs|SMARCA2_ENST00000302401.3_Frame_Shift_Ins_p.E68fs|SMARCA2_ENST00000324954.5_Frame_Shift_Ins_p.E26fs|SMARCA2_ENST00000382194.1_Frame_Shift_Ins_p.E1362fs			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1362					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GAAGATGTGGAAAAAGCTAAGA	0.446		NA											False	0	True	9:2161789	0
JAK2	3717	broad.mit.edu	37	9	5089799	5089800	+	In_Frame_Ins	INS	-	-	ACAAATAAATTTTATAATTATATA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:5089799_5089800insACAAATAAATTTTATAATTATATA	ENST00000381652.3	+	20	3191_3192	c.2697_2698insACAAATAAATTTTATAATTATATA	c.(2698-2700)gaa>ACAAATAAATTTTATAATTATATAgaa	p.899_900insTNKFYNYI	JAK2_ENST00000544510.1_In_Frame_Ins_p.750_751insTNKFYNYI|JAK2_ENST00000539801.1_In_Frame_Ins_p.899_900insTNKFYNYI	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	899	Protein kinase 2.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		AAAGGGAAATTGAAATCCTGAA	0.441		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				False	0	True	9:5089799	0
NFX1	0	broad.mit.edu	37	9	33318969	33318970	+	Frame_Shift_Ins	INS	-	-	AGCATACTTGAAGAGAAAATTTCAAAAACAAAAC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:33318969_33318970insAGCATACTTGAAGAGAAAATTTCAAAAACAAAAC	ENST00000379540.3	+	9	1812_1813	c.1750_1751insAGCATACTTGAAGAGAAAATTTCAAAAACAAAAC	c.(1750-1752)tgcfs	p.C584fs	NFX1_ENST00000379521.4_Frame_Shift_Ins_p.C584fs|NFX1_ENST00000318524.6_Frame_Shift_Ins_p.C584fs	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	584					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		CTGCCAGCAATGCCCACGGCTC	0.5		NA											False	0	True	9:33318969	0
VPS13A	23230	broad.mit.edu	37	9	79981770	79981771	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:79981770_79981771insA	ENST00000360280.3	+	61	8713_8714	c.8453_8454insA	c.(8452-8457)gtacaafs	p.Q2819fs	VPS13A_ENST00000357409.5_Frame_Shift_Ins_p.Q2819fs|VPS13A_ENST00000376634.4_Frame_Shift_Ins_p.Q2819fs|VPS13A_ENST00000376636.3_Frame_Shift_Ins_p.Q2780fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2819					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTGACAGATGTACAAGATGTAG	0.307		NA											False	1	False	9:79981770	0
VPS13A	23230	broad.mit.edu	37	9	79981772	79981773	+	In_Frame_Ins	INS	-	-	TAAAAAGATAAAGAGATA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:79981772_79981773insTAAAAAGATAAAGAGATA	ENST00000360280.3	+	61	8715_8716	c.8455_8456insTAAAAAGATAAAGAGATA	c.(8455-8457)caa>cTAAAAAGATAAAGAGATAaa	p.2819_2819Q>LKR*RDK	VPS13A_ENST00000357409.5_In_Frame_Ins_p.2819_2819Q>LKR*RDK|VPS13A_ENST00000376634.4_In_Frame_Ins_p.2819_2819Q>LKR*RDK|VPS13A_ENST00000376636.3_In_Frame_Ins_p.2780_2780Q>LKR*RDK	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2819					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GACAGATGTACAAGATGTAGTT	0.302		NA											False	0	False	9:79981772	0
OR13C2	392376	broad.mit.edu	37	9	107367665	107367666	+	Frame_Shift_Del	DEL	GC	GC	-	rs143760725	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:107367665_107367666delGC	ENST00000542196.1	-	1	285_286	c.243_244delGC	c.(241-246)acgctafs	p.L82fs		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AAGCTCACTAGCGTGGAGGGAA	0.515		NA											False	1	False	9:107367665	0
TNC	3371	broad.mit.edu	37	9	117846544	117846545	+	Frame_Shift_Ins	INS	-	-	AGAGCCTAGAATTAAGTCCATAGAAT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:117846544_117846545insAGAGCCTAGAATTAAGTCCATAGAAT	ENST00000341037.4	-	3	2202_2203	c.2074_2075insATTCTATGGACTTAATTCTAGGCTCT	c.(2074-2076)gtafs	p.V692fs	TNC_ENST00000537320.1_Frame_Shift_Ins_p.V692fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.V692fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.V692fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.V692fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.V692fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.V692fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.V692fs|TNC_ENST00000350763.4_Frame_Shift_Ins_p.V692fs			P24821	TENA_HUMAN	tenascin C	692	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GATGGCAAATACACGGATAAAG	0.569		NA											False	0	False	9:117846544	0
PSMB7	5695	broad.mit.edu	37	9	127177168	127177169	+	In_Frame_Ins	INS	-	-	CGATTAGTGCTGGACTGGTACCCTTGTAGAAGCCACGGAAGCCCACCTGGGAGT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:127177168_127177169insCGATTAGTGCTGGACTGGTACCCTTGTAGAAGCCACGGAAGCCCACCTGGGAGT	ENST00000259457.3	-	2	121_122	c.108_109insACTCCCAGGTGGGCTTCCGTGGCTTCTACAAGGGTACCAGTCCAGCACTAATCG	c.(106-111)cttcca>cttACTCCCAGGTGGGCTTCCGTGGCTTCTACAAGGGTACCAGTCCAGCACTAATCGcca	p.36_37LP>LTPRWASVASTRVPVQH*SP	PSMB7_ENST00000498485.1_5'UTR|PSMB7_ENST00000536392.1_In_Frame_Ins_p.36_37LP>LTPRWASVASTRVPVQH*SP	NM_002799.3	NP_002790.1	Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	36					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						CGGACCTTTGGAAGCTTGTATC	0.52		NA											False	0	False	9:127177168	0
GOLGA1	2800	broad.mit.edu	37	9	127650629	127650630	+	In_Frame_Ins	INS	-	-	ATCTTC			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:127650629_127650630insATCTTC	ENST00000373555.4	-	19	2140_2141	c.1807_1808insGAAGAT	c.(1807-1809)gca>gGAAGATca	p.603_603A>GRS		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	603						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGTTCTTCCTGCAGTTGGAAGC	0.535		NA											False	0	False	9:127650629	0
PRRC2B	84726	broad.mit.edu	37	9	134353999	134354000	+	In_Frame_Ins	INS	-	-	TTT			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:134353999_134354000insTTT	ENST00000405995.1	+	17	2895_2896	c.2669_2670insTTT	c.(2668-2673)gccgtg>gcTTTcgtg	p.890_891AV>AFV	PRRC2B_ENST00000458550.1_In_Frame_Ins_p.890_891AV>AFV|PRRC2B_ENST00000357304.4_In_Frame_Ins_p.1584_1585AV>AFV|PRRC2B_ENST00000372249.1_5'UTR			Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1584							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AAGGAGCAGGCCGTGCAGGTGA	0.629		NA									OREG0019562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	9:134353999	0
PTPLA	9200	broad.mit.edu	37	10	17636332	17636333	+	In_Frame_Ins	INS	-	-	GTATATACTTATTAGTACTTTGATTTGACATATGATGTG			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:17636332_17636333insGTATATACTTATTAGTACTTTGATTTGACATATGATGTG	ENST00000361271.3	-	6	692_693	c.655_656insCACATCATATGTCAAATCAAAGTACTAATAAGTATATAC	c.(655-657)ctt>cCACATCATATGTCAAATCAAAGTACTAATAAGTATATACtt	p.218_219insPHHMSNQSTNKYI		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	218					fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						GTATATTGTAAGAAGTTCACCA	0.307		NA											False	0	False	10:17636332	0
YME1L1	10730	broad.mit.edu	37	10	27436497	27436498	+	Frame_Shift_Ins	INS	-	-	AGTCTAGTTTCTTTGTTTGTTTGTTTTATCA			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:27436497_27436498insAGTCTAGTTTCTTTGTTTGTTTGTTTTATCA	ENST00000326799.3	-	3	416_417	c.268_269insTGATAAAACAAACAAACAAAGAAACTAGACT	c.(268-270)aggfs	p.R90fs	YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000477432.1_Frame_Shift_Ins_p.R90fs|YME1L1_ENST00000376016.3_Intron	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	90					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						cttcttcatcctttttgctggc	0.45		NA											False	0	True	10:27436497	0
FCN2	2220	broad.mit.edu	37	9	137772750	137772750	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:137772750C>T	ENST00000350339.2	+	1	97	c.83C>T	c.(82-84)gCg>gTg	p.A28V	FCN2_ENST00000291744.6_Missense_Mutation_p.A28V	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	28					complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GCTCTCCAGGCGGCAGACACC	0.617		NA											False	0	False	9:137772750	0
TPO	7173	broad.mit.edu	37	2	1497799	1497799	+	Missense_Mutation	SNP	G	G	A	rs140124953		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:1497799G>A	ENST00000345913.4	+	11	2085	c.1994G>A	c.(1993-1995)cGg>cAg	p.R665Q	TPO_ENST00000382201.3_Missense_Mutation_p.R608Q|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000329066.4_Missense_Mutation_p.R665Q|TPO_ENST00000346956.3_Missense_Mutation_p.R665Q|TPO_ENST00000337415.3_Missense_Mutation_p.R665Q|TPO_ENST00000349624.3_Missense_Mutation_p.R492Q|TPO_ENST00000382198.1_Missense_Mutation_p.R492Q	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	665			R -> W (in TDH2A; fails to localize to the plasma membrane).		cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AAGGCTCTGCGGGACGGTGAC	0.577		NA											False	0	True	2:1497799	0
KIR3DL3	115653	broad.mit.edu	37	19	55247491	55247491	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:55247491C>T	ENST00000291860.1	+	8	1179	c.1161C>T	c.(1159-1161)tgC>tgT	p.C387C	KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	387						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TGAATCACTGCGTTTTCACAC	0.517		NA											False	0	False	19:55247491	0
GPRIN1	114787	broad.mit.edu	37	5	176025336	176025336	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:176025336C>T	ENST00000303991.4	-	2	1677	c.1500G>A	c.(1498-1500)ttG>ttA	p.L500L		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	500						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCTGTCCCCAAGGACCTGG	0.547		NA											False	0	True	5:176025336	0
FCER1A	2205	broad.mit.edu	37	1	159273851	159273851	+	Silent	SNP	T	T	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:159273851T>A	ENST00000368115.1	+	4	309	c.210T>A	c.(208-210)ctT>ctA	p.L70L	FCER1A_ENST00000368114.1_Silent_p.L37L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	70	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ATGGCAGCCTTTCAGAAGAGA	0.368		NA											False	0	True	1:159273851	0
NCAM1	4684	broad.mit.edu	37	11	113126681	113126681	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:113126681C>T	ENST00000316851.7	+	14	1881	c.1881C>T	c.(1879-1881)gaC>gaT	p.D627D	NCAM1_ENST00000533760.1_Silent_p.D509D|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	637	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGCAGGATGACGGCGGCTCCC	0.552		NA											False	0	False	11:113126681	0
HR	55806	broad.mit.edu	37	8	21985133	21985133	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:21985133C>T	ENST00000381418.4	-	3	2302	c.822G>A	c.(820-822)gtG>gtA	p.V274V	HR_ENST00000312841.8_Silent_p.V274V	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	274							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGGTCCAGGGCACAGTGTCTG	0.657		NA											False	0	True	8:21985133	0
TAF1	6872	broad.mit.edu	37	X	70627893	70627893	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:70627893A>G	ENST00000449580.1	+	28	4324	c.4273A>G	c.(4273-4275)Atg>Gtg	p.M1425V	TAF1_ENST00000423759.1_Missense_Mutation_p.M1446V|TAF1_ENST00000276072.3_Missense_Mutation_p.M1446V|TAF1_ENST00000373790.4_Missense_Mutation_p.M1425V			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1425	Bromo 1.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CACTCGGCCAATGGACCTACA	0.468		NA											False	0	False	X:70627893	0
MYO7A	4647	broad.mit.edu	37	11	76918417	76918417	+	Silent	SNP	A	A	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:76918417A>G	ENST00000409709.3	+	42	6098	c.5826A>G	c.(5824-5826)ggA>ggG	p.G1942G	MYO7A_ENST00000458637.2_Silent_p.G1904G|MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Silent_p.G1893G	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1942	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTCAGAGGGATTCAGCCTCT	0.572		NA											False	0	True	11:76918417	0
ACAN	176	broad.mit.edu	37	15	89386782	89386782	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:89386782C>T	ENST00000439576.2	+	6	1328	c.954C>T	c.(952-954)tgC>tgT	p.C318C	ACAN_ENST00000561243.1_Silent_p.C318C|ACAN_ENST00000558207.1_Silent_p.C318C|ACAN_ENST00000559004.1_Silent_p.C318C|ACAN_ENST00000352105.7_Silent_p.C318C	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	318					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCCCAACTGCGGTGGCAACC	0.677		NA											False	0	False	15:89386782	0
DCLK2	166614	broad.mit.edu	37	4	151168835	151168835	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:151168835T>C	ENST00000296550.7	+	13	2613	c.1859T>C	c.(1858-1860)aTc>aCc	p.I620T	DCLK2_ENST00000506325.1_Missense_Mutation_p.I619T|DCLK2_ENST00000302176.8_Missense_Mutation_p.I637T	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	620	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGGATAACATCACGGACTCT	0.527		NA											False	0	False	4:151168835	0
ZSWIM3	140831	broad.mit.edu	37	20	44506266	44506266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:44506266G>A	ENST00000255152.2	+	2	1278	c.1069G>A	c.(1069-1071)Gta>Ata	p.V357I	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.V351I	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	357							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GTCCCAGGCCGTACTGGATGA	0.522		NA											False	0	False	20:44506266	0
ETV3L	440695	broad.mit.edu	37	1	157068532	157068532	+	Missense_Mutation	SNP	C	C	T	rs147712441	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:157068532C>T	ENST00000454449.2	-	3	736	c.452G>A	c.(451-453)cGg>cAg	p.R151Q		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	151			R -> W (in dbSNP:rs12083811).			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CAGCGCTGGCCGACACAGGGC	0.647		NA											False	0	False	1:157068532	0
RTEL1	51750	broad.mit.edu	37	20	62292776	62292776	+	Silent	SNP	G	G	A	rs116624637	by1000genomes	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:62292776G>A	ENST00000318100.4	+	3	1055	c.228G>A	c.(226-228)gcG>gcA	p.A76A	RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.A76A|RTEL1_ENST00000508582.2_Silent_p.A76A|RTEL1_ENST00000370018.3_Silent_p.A76A|RTEL1_ENST00000488316.1_3'UTR|RTEL1_ENST00000360203.5_Silent_p.A76A	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	76	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCGAGAGGGCGCAAGGAGAGC	0.637		NA											False	0	False	20:62292776	0
ABCC9	10060	broad.mit.edu	37	12	21997786	21997786	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:21997786A>T	ENST00000261200.4	-	25	3159	c.3160T>A	c.(3160-3162)Tcc>Acc	p.S1054T	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.S1018T|ABCC9_ENST00000261201.4_Missense_Mutation_p.S1054T	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1054	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACAGTGAGGGATGTAACAAGG	0.413		NA											False	0	True	12:21997786	0
VAC14	55697	broad.mit.edu	37	16	70834811	70834811	+	Translation_Start_Site	SNP	G	G	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr16:70834811G>T	ENST00000261776.5	-	0	253					NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	NA					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)				CATGGTGGCAGCTGGGGGAAC	0.701		NA											False	0	False	16:70834811	0
PCDHGA7	0	broad.mit.edu	37	5	140763117	140763117	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:140763117C>T	ENST00000518325.1	+	1	651	c.651C>T	c.(649-651)ggC>ggT	p.G217G	PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1				NA										NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTGATGGCGGCGACCCGC	0.607		NA											False	0	False	5:140763117	0
BTNL9	153579	broad.mit.edu	37	5	180475168	180475168	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:180475168C>T	ENST00000327705.9	+	3	582	c.351C>T	c.(349-351)gtC>gtT	p.V117V	BTNL9_ENST00000376842.3_Silent_p.V117V|BTNL9_ENST00000515271.1_Silent_p.V48V|BTNL9_ENST00000376841.2_Silent_p.V117V	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	117	Ig-like V-type.					integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCGTGGTCCTGCAGCTTC	0.597		NA											False	0	False	5:180475168	0
STON1-GTF2A1L	0	broad.mit.edu	37	2	48873884	48873884	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:48873884C>T	ENST00000394754.1	+	8	2907	c.2793C>T	c.(2791-2793)atC>atT	p.I931I	GTF2A1L_ENST00000430487.2_Silent_p.I193I|STON1-GTF2A1L_ENST00000309827.2_Silent_p.I931I|STON1-GTF2A1L_ENST00000402114.2_Silent_p.I931I|STON1-GTF2A1L_ENST00000394751.3_Silent_p.I884I|STON1-GTF2A1L_ENST00000405008.1_Silent_p.I931I|GTF2A1L_ENST00000403751.3_Silent_p.I227I|LHCGR_ENST00000420913.3_Intron	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		884					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCATAAAATCGTGCCTGAAG	0.413		NA											False	0	False	2:48873884	0
OSBPL9	114883	broad.mit.edu	37	1	52249642	52249642	+	Missense_Mutation	SNP	C	C	G	rs61743086	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:52249642C>G	ENST00000371710.3	+	18	1805	c.1623C>G	c.(1621-1623)atC>atG	p.I541M	OSBPL9_ENST00000462759.1_Missense_Mutation_p.I345M|OSBPL9_ENST00000447887.1_Missense_Mutation_p.I533M|OSBPL9_ENST00000361556.5_Missense_Mutation_p.I413M|OSBPL9_ENST00000428468.1_Missense_Mutation_p.I523M|OSBPL9_ENST00000486942.1_Missense_Mutation_p.I345M|OSBPL9_ENST00000453295.1_Missense_Mutation_p.I506M|OSBPL9_ENST00000337809.4_Missense_Mutation_p.I528M|OSBPL9_ENST00000371714.1_Missense_Mutation_p.I510M|OSBPL9_ENST00000530544.1_Missense_Mutation_p.I442M|OSBPL9_ENST00000435686.2_Missense_Mutation_p.I358M|OSBPL9_ENST00000531828.1_Missense_Mutation_p.I358M	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	523					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATGCTCATATCTGGACCAAAT	0.368		NA											False	0	False	1:52249642	0
MRVI1	10335	broad.mit.edu	37	11	10645395	10645395	+	Silent	SNP	G	G	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:10645395G>T	ENST00000547195.1	-	9	1604	c.1104C>A	c.(1102-1104)atC>atA	p.I368I	MRVI1_ENST00000545852.1_Silent_p.I144I|MRVI1_ENST00000527509.2_Silent_p.I368I|MRVI1_ENST00000421747.1_Silent_p.I450I|MRVI1_ENST00000436272.1_Silent_p.I432I|MRVI1_ENST00000541483.1_Silent_p.I253I|MRVI1_ENST00000558540.1_Silent_p.I144I|MRVI1_ENST00000531107.1_Silent_p.I451I|MRVI1_ENST00000552103.1_Silent_p.I368I|MRVI1_ENST00000423302.2_Silent_p.I459I|MRVI1_ENST00000424001.1_Silent_p.I144I|MRVI1_ENST00000534266.2_Silent_p.I144I	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	432					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCTCATCAGGATGTGCTCCT	0.483		NA											False	0	False	11:10645395	0
TLN1	7094	broad.mit.edu	37	9	35699041	35699041	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:35699041C>T	ENST00000314888.9	-	52	7340	c.6987G>A	c.(6985-6987)cgG>cgA	p.R2329R	TLN1_ENST00000540444.1_Silent_p.R2217R	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2329	I/LWEQ.				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)			TGGGTTTGGCCCGGGGCTTCA	0.567		NA											False	0	True	9:35699041	0
NIN	51199	broad.mit.edu	37	14	51288700	51288700	+	Silent	SNP	T	T	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:51288700T>G	ENST00000245441.5	-	3	265	c.75A>C	c.(73-75)acA>acC	p.T25T	NIN_ENST00000530997.2_Silent_p.T25T|NIN_ENST00000382041.3_Silent_p.T25T|NIN_ENST00000382043.4_Silent_p.T25T|NIN_ENST00000453196.1_Silent_p.T25T|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000324330.9_Silent_p.T25T|NIN_ENST00000389868.3_Silent_p.T25T	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	25	EF-hand 1.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCAGGGACCCTGTGCCCGTCG	0.582		NA	T	PDGFRB	MPD								False	0	True	14:51288700	0
SSPO	23145	broad.mit.edu	37	7	149524951	149524951	+	RNA	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:149524951G>A	ENST00000378016.2	+	0	14862							A2VEC9	SSPO_HUMAN	SCO-spondin	NA					cell adhesion	extracellular space	peptidase inhibitor activity				NA	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAAAGACCCAGAGTAACTGCA	0.682		NA											False	0	False	7:149524951	0
DSC1	1823	broad.mit.edu	37	18	28736086	28736086	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr18:28736086G>A	ENST00000257197.3	-	4	652	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	DSC1_ENST00000257198.5_Missense_Mutation_p.R131C|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	131					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.R131C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTCTTGCTGCGCTTGAGGGCT	0.418		NA											False	0	False	18:28736086	0
OSBPL9	114883	broad.mit.edu	37	1	52249970	52249970	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:52249970C>T	ENST00000371710.3	+	19	1895	c.1713C>T	c.(1711-1713)taC>taT	p.Y571Y	OSBPL9_ENST00000462759.1_Silent_p.Y375Y|OSBPL9_ENST00000447887.1_Silent_p.Y563Y|OSBPL9_ENST00000361556.5_Silent_p.Y443Y|OSBPL9_ENST00000428468.1_Silent_p.Y553Y|OSBPL9_ENST00000486942.1_Silent_p.Y375Y|OSBPL9_ENST00000453295.1_Silent_p.Y536Y|OSBPL9_ENST00000337809.4_Silent_p.Y558Y|OSBPL9_ENST00000371714.1_Silent_p.Y540Y|OSBPL9_ENST00000530544.1_Silent_p.Y472Y|OSBPL9_ENST00000435686.2_Silent_p.Y388Y|OSBPL9_ENST00000531828.1_Silent_p.Y388Y	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	553					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATGAACATTACATTCTCACAT	0.488		NA											False	0	True	1:52249970	0
PRUNE2	158471	broad.mit.edu	37	9	79325846	79325846	+	Silent	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:79325846G>A	ENST00000428286.1	-	8	1467	c.267C>T	c.(265-267)gaC>gaT	p.D89D	PRUNE2_ENST00000376718.3_Silent_p.D448D			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	448					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGGGGCTGTCGTCACTGAGGA	0.602		NA											False	0	False	9:79325846	0
TXNDC15	79770	broad.mit.edu	37	5	134232006	134232006	+	Missense_Mutation	SNP	G	G	A	rs139088311		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:134232006G>A	ENST00000358387.4	+	4	1403	c.778G>A	c.(778-780)Gta>Ata	p.V260I	TXNDC15_ENST00000546290.1_Missense_Mutation_p.V237I	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	260	Thioredoxin.				cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTGGCACCGTAGCTGTTCC	0.338		NA											False	0	False	5:134232006	0
CAPRIN1	4076	broad.mit.edu	37	11	34107957	34107957	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:34107957C>G	ENST00000341394.4	+	11	1417	c.1228C>G	c.(1228-1230)Cca>Gca	p.P410A	CAPRIN1_ENST00000529307.1_Missense_Mutation_p.P329A|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.P410A|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.P410A|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.P410A	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	410					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GGTTTGCCCTCCAGGTTAGTA	0.363		NA											False	0	False	11:34107957	0
PLXNB3	5365	broad.mit.edu	37	X	153035996	153035996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:153035996G>A	ENST00000538966.1	+	11	2249	c.1978G>A	c.(1978-1980)Gtg>Atg	p.V660M	PLXNB3_ENST00000361971.5_Missense_Mutation_p.V637M|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Missense_Mutation_p.V247M|PLXNB3_ENST00000538776.1_Missense_Mutation_p.V290M	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	637					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCGCGCTTGCGTGGGCAGCAT	0.677		NA											False	0	False	X:153035996	0
TGFBR2	7048	broad.mit.edu	37	3	30686373	30686373	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:30686373T>A	ENST00000295754.5	+	2	611	c.229T>A	c.(229-231)Tgt>Agt	p.C77S	TGFBR2_ENST00000359013.4_Missense_Mutation_p.C102S	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	77					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CACCTCCATCTGTGAGAAGCC	0.408		NA											False	0	False	3:30686373	0
SLC25A10	1468	broad.mit.edu	37	17	79673938	79673938	+	Silent	SNP	G	G	A	rs140892819		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:79673938G>A	ENST00000571730.1	+	4	479	c.348G>A	c.(346-348)gcG>gcA	p.A116A	SLC25A10_ENST00000541223.1_Silent_p.A116A|MRPL12_ENST00000333676.3_Silent_p.A116A			Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TCCCTAAGGCGGTGGAAGAAG	0.577		NA											False	0	False	17:79673938	0
TRIM26	7726	broad.mit.edu	37	6	30166741	30166741	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:30166741G>A	ENST00000454678.2	-	4	576	c.140C>T	c.(139-141)tCa>tTa	p.S47L	TRIM26_ENST00000437089.1_Missense_Mutation_p.S47L|TRIM26_ENST00000453195.1_Missense_Mutation_p.S47L|TRIM26_ENST00000487829.1_5'UTR	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	47							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						GCGGCTCCCTGAGATGGGGCG	0.602		NA											False	0	False	6:30166741	0
ZNF292	23036	broad.mit.edu	37	6	87969936	87969936	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:87969936C>A	ENST00000369577.3	+	8	6632	c.6589C>A	c.(6589-6591)Cat>Aat	p.H2197N	ZNF292_ENST00000339907.4_Missense_Mutation_p.H2192N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CATGAAACTTCATGAAATGAC	0.353		NA											False	0	False	6:87969936	0
ENDOD1	23052	broad.mit.edu	37	11	94862206	94862206	+	Silent	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:94862206G>A	ENST00000278505.4	+	2	1084	c.966G>A	c.(964-966)gaG>gaA	p.E322E		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	322						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				AGGCATCTGAGGGAAGTAGTA	0.433		NA											False	0	True	11:94862206	0
FBXO15	201456	broad.mit.edu	37	18	71790624	71790624	+	Missense_Mutation	SNP	G	G	A	rs144253482	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr18:71790624G>A	ENST00000269500.5	-	8	1224	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	FBXO15_ENST00000419743.2_Missense_Mutation_p.R373C	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	297										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AAGAGATTGCGAAATGTACCA	0.428		NA											False	0	True	18:71790624	0
THEMIS	387357	broad.mit.edu	37	6	128134640	128134640	+	Silent	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:128134640G>A	ENST00000368250.1	-	5	1407	c.909C>T	c.(907-909)tcC>tcT	p.S303S	THEMIS_ENST00000537166.1_Silent_p.S347S|THEMIS_ENST00000543064.1_Silent_p.S382S|THEMIS_ENST00000368248.2_Silent_p.S382S			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	382	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CAACAGATACGGATGACAGCT	0.488		NA											False	0	False	6:128134640	0
TBC1D32	221322	broad.mit.edu	37	6	121402015	121402015	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:121402015G>A	ENST00000275159.6	-	33	3798	c.3799C>T	c.(3799-3801)Cga>Tga	p.R1267*	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000398212.2_Nonsense_Mutation_p.R1226*					TBC1 domain family, member 32	NA											NA						TCACTCACTCGAAACCCATGC	0.353		NA											False	0	True	6:121402015	0
NRSN1	140767	broad.mit.edu	37	6	24145857	24145857	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:24145857G>A	ENST00000378491.4	+	4	572	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	91					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		p.E91K(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						CCCCAAAATCGAAGCATTTGG	0.488		NA											False	0	False	6:24145857	0
SH2D4A	63898	broad.mit.edu	37	8	19250984	19250984	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:19250984G>A	ENST00000265807.3	+	9	1615	c.1204G>A	c.(1204-1206)Gcc>Acc	p.A402T	SH2D4A_ENST00000518040.1_Missense_Mutation_p.A357T|SH2D4A_ENST00000519207.1_Missense_Mutation_p.A402T	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	402	SH2.					cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		CTCTGCAGACGCCTACAGCTT	0.498		NA											False	0	False	8:19250984	0
OSBPL9	114883	broad.mit.edu	37	1	52249653	52249653	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:52249653C>T	ENST00000371710.3	+	18	1816	c.1634C>T	c.(1633-1635)tCa>tTa	p.S545L	OSBPL9_ENST00000462759.1_Missense_Mutation_p.S349L|OSBPL9_ENST00000447887.1_Missense_Mutation_p.S537L|OSBPL9_ENST00000361556.5_Missense_Mutation_p.S417L|OSBPL9_ENST00000428468.1_Missense_Mutation_p.S527L|OSBPL9_ENST00000486942.1_Missense_Mutation_p.S349L|OSBPL9_ENST00000453295.1_Missense_Mutation_p.S510L|OSBPL9_ENST00000337809.4_Missense_Mutation_p.S532L|OSBPL9_ENST00000371714.1_Missense_Mutation_p.S514L|OSBPL9_ENST00000530544.1_Missense_Mutation_p.S446L|OSBPL9_ENST00000435686.2_Missense_Mutation_p.S362L|OSBPL9_ENST00000531828.1_Missense_Mutation_p.S362L	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	527					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TGGACCAAATCAAAATTCCTT	0.348		NA											False	0	True	1:52249653	0
MVB12B	89853	broad.mit.edu	37	9	129184132	129184132	+	Splice_Site	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:129184132G>A	ENST00000361171.3	+	7	743		c.e7-1		MVB12B_ENST00000436593.3_Splice_Site	NM_033446.2	NP_258257.1			multivesicular body subunit 12B	NA											NA						CTCTTCCTCAGGCACATCTCC	0.522		NA											False	0	False	9:129184132	0
HIPK3	10114	broad.mit.edu	37	11	33373261	33373261	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:33373261A>T	ENST00000303296.4	+	15	3220	c.2915A>T	c.(2914-2916)gAc>gTc	p.D972V	HIPK3_ENST00000525975.1_Missense_Mutation_p.D951V|HIPK3_ENST00000379016.3_Missense_Mutation_p.D951V|HIPK3_ENST00000456517.1_Missense_Mutation_p.D951V	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	972	Required for localization to nuclear speckles (By similarity).				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTTGTGGAGGACACTCATGAA	0.478		NA											False	0	False	11:33373261	0
SEC16B	89866	broad.mit.edu	37	1	177934213	177934213	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:177934213G>C	ENST00000308284.6	-	4	591	c.502C>G	c.(502-504)Cca>Gca	p.P168A	SEC16B_ENST00000464631.2_Missense_Mutation_p.P168A|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	168	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GTTCCAAATGGACTGTGCTGG	0.448		NA											False	0	False	1:177934213	0
FBLN2	2199	broad.mit.edu	37	3	13612273	13612273	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:13612273G>A	ENST00000404922.3	+	2	537	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	FBLN2_ENST00000295760.7_Missense_Mutation_p.V140I|FBLN2_ENST00000492059.1_Missense_Mutation_p.V140I|FBLN2_ENST00000535798.1_Missense_Mutation_p.V166I	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	140	N.|Subdomain NA (Cys-rich).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGTGGGCTGCGTCCACGCGGG	0.677		NA											False	0	False	3:13612273	0
SPTA1	6708	broad.mit.edu	37	1	158596687	158596687	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:158596687T>G	ENST00000368147.4	-	41	5955	c.5775A>C	c.(5773-5775)gaA>gaC	p.E1925D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATAATCGTCTTCCAATTGCA	0.453		NA											False	0	False	1:158596687	0
PARD3B	117583	broad.mit.edu	37	2	205829959	205829959	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:205829959G>A	ENST00000406610.2	+	3	514	c.307G>A	c.(307-309)Gct>Act	p.A103T	PARD3B_ENST00000351153.1_Missense_Mutation_p.A103T|PARD3B_ENST00000358768.2_Missense_Mutation_p.A103T|PARD3B_ENST00000349953.3_Missense_Mutation_p.A103T|PARD3B_ENST00000462231.1_Missense_Mutation_p.A103T	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	103					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GAGCCCAGATGCTTTTGAGAC	0.478		NA											False	0	False	2:205829959	0
SNAP29	9342	broad.mit.edu	37	22	21213614	21213614	+	Silent	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:21213614G>A	ENST00000215730.7	+	1	344	c.216G>A	c.(214-216)aaG>aaA	p.K72K		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	NA					cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			AGTCCGAGAAGGTTGGGGTCG	0.637		NA											False	0	False	22:21213614	0
KRBOX4	55634	broad.mit.edu	37	X	46332385	46332385	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:46332385G>C	ENST00000344302.4	+	6	1085	c.454G>C	c.(454-456)Gca>Cca	p.A152P	KRBOX4_ENST00000298190.6_Missense_Mutation_p.A147P|KRBOX4_ENST00000360017.5_3'UTR|KRBOX4_ENST00000487081.1_3'UTR|KRBOX4_ENST00000478600.1_Intron	NM_001129898.1|NM_017776.2	NP_001123370.1|NP_060246.2			KRAB box domain containing 4	NA											NA						GTGGGAAAAGGCATTCAAAAC	0.338		NA											False	0	False	X:46332385	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|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)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
PSMC2	5701	broad.mit.edu	37	7	102996160	102996160	+	Silent	SNP	T	T	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:102996160T>C	ENST00000435765.1	+	5	621	c.210T>C	c.(208-210)acT>acC	p.T70T	PSMC2_ENST00000544811.1_Intron|PSMC2_ENST00000292644.3_Silent_p.T70T|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	70					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AATCTGACACTGGCCTGGCCC	0.448		NA											False	0	True	7:102996160	0
PACSIN3	29763	broad.mit.edu	37	11	47203984	47203984	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:47203984C>T	ENST00000539589.1	-	4	523	c.181G>A	c.(181-183)Gcc>Acc	p.A61T	PACSIN3_ENST00000298838.6_Missense_Mutation_p.A61T	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	61	FCH.		A -> V (in dbSNP:rs7106654).		endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CACTTTCGGGCCCAGTCAGCC	0.677		NA											False	0	True	11:47203984	0
SLCO1C1	53919	broad.mit.edu	37	12	20854341	20854341	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:20854341G>T	ENST00000381552.1	+	3	587	c.219G>T	c.(217-219)agG>agT	p.R73S	SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.R73S|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.R73S|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.R73S			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	73					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TAGAGAGAAGGTTTGATATCC	0.393		NA											False	0	True	12:20854341	0
NGF	4803	broad.mit.edu	37	1	115829233	115829233	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:115829233G>A	ENST00000369512.2	-	3	352	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	62					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CCCGCCACGCGTGCAGCTATC	0.632		NA											False	0	False	1:115829233	0
SMPD4	55627	broad.mit.edu	37	2	130921950	130921950	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:130921950G>C	ENST00000452225.2	-	4	357	c.119C>G	c.(118-120)cCa>cGa	p.P40R	SMPD4_ENST00000443958.2_Silent_p.A19A|SMPD4_ENST00000409031.1_Silent_p.A326A|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000426662.2_Missense_Mutation_p.P40R|SMPD4_ENST00000339679.7_Silent_p.A213A|SMPD4_ENST00000453750.1_Silent_p.A104A|SMPD4_ENST00000351288.6_Silent_p.A326A|SMPD4_ENST00000431183.2_Silent_p.A253A			Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	0					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AACATACCTTGGCATGAGGGG	0.448		NA											False	0	False	2:130921950	0
LINC00969	0	broad.mit.edu	37	3	195404651	195404651	+	RNA	SNP	C	C	G	rs1996904	by1000genomes	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508										NA											NA						TGTCACGAATCTTGACAAATT	0.418		NA											False	0	False	3:195404651	0
ZFP91	80829	broad.mit.edu	37	11	58347089	58347089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:58347089G>A	ENST00000316059.6	+	1	506	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R112Q	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	112					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AAGAGTCCGCGACTCCTGTGA	0.672		NA									OREG0020976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:58347089	0
PCLO	27445	broad.mit.edu	37	7	82584750	82584750	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:82584750T>C	ENST00000333891.9	-	5	5856	c.5519A>G	c.(5518-5520)gAa>gGa	p.E1840G	PCLO_ENST00000423517.2_Missense_Mutation_p.E1840G	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	NA					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACGTAACTCTTCTGTCGGAGA	0.438		NA											False	0	False	7:82584750	0
HECW1	23072	broad.mit.edu	37	7	43447240	43447240	+	Silent	SNP	A	A	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:43447240A>G	ENST00000395891.2	+	8	1316	c.711A>G	c.(709-711)aaA>aaG	p.K237K	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Silent_p.K237K	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	NA	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGCCTGGGAAACACAGCATCT	0.493		NA											False	0	True	7:43447240	0
CFB	629	broad.mit.edu	37	6	31918989	31918989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:31918989C>T	ENST00000456570.1	+	27	3485	c.3430C>T	c.(3430-3432)Cgg>Tgg	p.R1144W	CFB_ENST00000425368.2_Missense_Mutation_p.R642W|CFB_ENST00000477310.1_Missense_Mutation_p.R993W|CFB_ENST00000556679.1_Missense_Mutation_p.R1144W			P00751	CFAB_HUMAN	complement factor B	642					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AAAGCTGACTCGGAAGGAGGT	0.502		NA											False	0	False	6:31918989	0
EP300	2033	broad.mit.edu	37	22	41533755	41533755	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:41533755A>G	ENST00000263253.7	+	8	2940	c.1721A>G	c.(1720-1722)gAt>gGt	p.D574G		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	574	KIX.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGGCACGAAGATATTACTCAG	0.438		NA	"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				False	0	False	22:41533755	0
