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
ACTRT2	140625	broad.mit.edu	37	1	2938408	2938410	+	In_Frame_Del	DEL	AGA	AGA	-	rs4013154		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:2938408_2938410delAGA	ENST00000378404.2	+	1	363_365	c.158_160delAGA	c.(157-162)cagaag>cag	p.K55del		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	55				Missing (in Ref. 5; AAH29499).		cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GAGGCCAACCAGAAGAAGTACTT	0.611		NA											False	2	False	1:2938408	0
WDR47	22911	broad.mit.edu	37	1	109538340	109538341	+	Frame_Shift_Ins	INS	-	-	GAAATATTAACTTACTACTAATGGT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:109538340_109538341insGAAATATTAACTTACTACTAATGGT	ENST00000369965.4	-	8	1815_1816	c.1555_1556insACCATTAGTAGTAAGTTAATATTTC	c.(1555-1557)actfs	p.T519fs	WDR47_ENST00000400794.3_Frame_Shift_Ins_p.T526fs|WDR47_ENST00000369962.3_Frame_Shift_Ins_p.T518fs|WDR47_ENST00000361054.3_Frame_Shift_Ins_p.T490fs|WDR47_ENST00000357672.3_Frame_Shift_Ins_p.T490fs	NM_001142550.1|NM_001142551.1|NM_014969.5	NP_001136022.1|NP_001136023.1|NP_055784.3	O94967	WDR47_HUMAN	WD repeat domain 47	518										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AGTAAAACTAGTCACAGAAGAA	0.401		NA											False	0	False	1:109538340	0
CHIA	27159	broad.mit.edu	37	1	111860714	111860715	+	Frame_Shift_Ins	INS	-	-	GTTTGAAGAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:111860714_111860715insGTTTGAAGAT	ENST00000369740.1	+	8	815_816	c.712_713insGTTTGAAGAT	c.(712-714)aacfs	p.N238fs	CHIA_ENST00000483391.1_Frame_Shift_Ins_p.N77fs|CHIA_ENST00000353665.6_Frame_Shift_Ins_p.N77fs|CHIA_ENST00000343320.6_Frame_Shift_Ins_p.N238fs|CHIA_ENST00000451398.2_Frame_Shift_Ins_p.N77fs|CHIA_ENST00000430615.1_Frame_Shift_Ins_p.N130fs|RP5-1125M8.2_ENST00000426321.1_RNA	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	238					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CACCGGCAGCAACGCCTACCTC	0.51		NA											False	0	False	1:111860714	0
ZNF438	220929	broad.mit.edu	37	10	31139086	31139087	+	In_Frame_Ins	INS	-	-	CTCCTG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:31139086_31139087insCTCCTG	ENST00000331737.6	-	7	675_676	c.217_218insCAGGAG	c.(217-219)atg>aCAGGAGtg	p.73_73M>TGV	ZNF438_ENST00000452305.1_In_Frame_Ins_p.73_73M>TGV|ZNF438_ENST00000361310.3_In_Frame_Ins_p.83_83M>TGV|ZNF438_ENST00000442986.1_In_Frame_Ins_p.83_83M>TGV|ZNF438_ENST00000538351.1_In_Frame_Ins_p.34_34M>TGV|ZNF438_ENST00000413025.1_In_Frame_Ins_p.83_83M>TGV|ZNF438_ENST00000444692.2_In_Frame_Ins_p.73_73M>TGV|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000436087.2_In_Frame_Ins_p.83_83M>TGV	NM_001143771.1	NP_001137243.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				AGCAACCTGCATCAGGGCATAG	0.525		NA											False	0	False	10:31139086	0
CSTF2T	23283	broad.mit.edu	37	10	53457491	53457492	+	Frame_Shift_Ins	INS	-	-	TTTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:53457491_53457492insTTTTT	ENST00000331173.4	-	1	1863_1864	c.1818_1819insAAAAA	c.(1816-1821)aaggaafs	p.E607fs	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	607					mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TGGATTTGTTCCTTTAAAATCA	0.421		NA											False	0	True	10:53457491	0
CSTF2T	23283	broad.mit.edu	37	10	53457492	53457493	+	Frame_Shift_Ins	INS	-	-	TTTCTTTCTGTTTTCCTTTTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:53457492_53457493insTTTCTTTCTGTTTTCCTTTTTT	ENST00000331173.4	-	1	1862_1863	c.1817_1818insAAAAAAGGAAAACAGAAAGAAA	c.(1816-1818)aagfs	p.K606fs	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	606					mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GGATTTGTTCCTTTAAAATCAG	0.426		NA											False	0	True	10:53457492	0
BICC1	80114	broad.mit.edu	37	10	60560808	60560809	+	Splice_Site	INS	-	-	TGACAATTATCTGCA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:60560808_60560809insTGACAATTATCTGCA	ENST00000373886.3	+	14	2019		c.e14+2		BICC1_ENST00000263103.1_Splice_Site	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	NA					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ACACTTACAGTATGTATTTTAA	0.366		NA											False	0	True	10:60560808	0
ANK3	288	broad.mit.edu	37	10	62149348	62149349	+	Translation_Start_Site	INS	-	-	TATGCCAGAGCAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:62149348_62149349insTATGCCAGAGCAT	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
RTKN2	219790	broad.mit.edu	37	10	63976913	63976918	+	In_Frame_Del	DEL	AGCTTC	AGCTTC	-	rs75787120	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	AGCTTC	AGCTTC	-	-	AGCTTC	AGCTTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:63976913_63976918delAGCTTC	ENST00000373789.3	-	9	1075_1080	c.979_984delGAAGCT	c.(979-984)gaagctdel	p.EA327del	RTKN2_ENST00000395265.1_In_Frame_Del_p.EA327del|RTKN2_ENST00000315289.2_In_Frame_Del_p.EA108del	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	327	PH.				signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTTCCACTTTAGCTTCAATTTCCTCT	0.354		NA											False	1	False	10:63976913	0
CCAR1	55749	broad.mit.edu	37	10	70509434	70509435	+	Frame_Shift_Ins	INS	-	-	AAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:70509434_70509435insAAAA	ENST00000265872.6	+	10	1229_1230	c.1110_1111insAAAA	c.(1111-1113)ttafs	p.L371fs	CCAR1_ENST00000543719.1_Frame_Shift_Ins_p.L356fs|CCAR1_ENST00000535016.1_Frame_Shift_Ins_p.L356fs	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	371					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CAAAGTTTTCTTTAGATTGGTA	0.396		NA											False	0	True	10:70509434	0
CCAR1	55749	broad.mit.edu	37	10	70509436	70509437	+	Frame_Shift_Ins	INS	-	-	ACTAATATTTCTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:70509436_70509437insACTAATATTTCTA	ENST00000265872.6	+	10	1231_1232	c.1112_1113insACTAATATTTCTA	c.(1111-1116)ttagatfs	p.D372fs	CCAR1_ENST00000543719.1_Frame_Shift_Ins_p.D357fs|CCAR1_ENST00000535016.1_Frame_Shift_Ins_p.D357fs	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	372					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AAGTTTTCTTTAGATTGGTAGG	0.396		NA											False	0	True	10:70509436	0
SORBS1	10580	broad.mit.edu	37	10	97117530	97117531	+	Frame_Shift_Ins	INS	-	-	CCCTATT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:97117530_97117531insCCCTATT	ENST00000371227.4	-	21	2036_2037	c.1847_1848insAATAGGG	c.(1846-1848)aagfs	p.-616fs	SORBS1_ENST00000354106.3_Frame_Shift_Ins_p.-632fs|SORBS1_ENST00000371241.1_Frame_Shift_Ins_p.-368fs|SORBS1_ENST00000361941.3_Frame_Shift_Ins_p.-662fs|SORBS1_ENST00000371247.2_Frame_Shift_Ins_p.-662fs|SORBS1_ENST00000277982.5_Frame_Shift_Ins_p.-684fs|SORBS1_ENST00000607232.1_Frame_Shift_Ins_p.-429fs|SORBS1_ENST00000393949.1_Frame_Shift_Ins_p.-632fs|SORBS1_ENST00000306402.6_Frame_Shift_Ins_p.-409fs|SORBS1_ENST00000371249.2_Frame_Shift_Ins_p.-500fs|SORBS1_ENST00000347291.4_Frame_Shift_Ins_p.-474fs|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000353505.5_Frame_Shift_Ins_p.-513fs|SORBS1_ENST00000371246.2_Frame_Shift_Ins_p.-684fs|SORBS1_ENST00000371239.1_Frame_Shift_Ins_p.-439fs|SORBS1_ENST00000371245.3_Frame_Shift_Ins_p.-513fs			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	NA					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTGATTCCCTCTTCACTGCATG	0.406		NA											False	0	False	10:97117530	0
PDZD8	118987	broad.mit.edu	37	10	119043489	119043490	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:119043489_119043490insTC	ENST00000334464.5	-	5	2993_2994	c.2754_2755insGA	c.(2752-2757)cctcgtfs	p.R919fs		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	919					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GCATCAACACGAGGAGGCAGGC	0.431		NA											False	0	False	10:119043489	0
PDZD8	118987	broad.mit.edu	37	10	119043491	119043492	+	Frame_Shift_Ins	INS	-	-	ACAAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:119043491_119043492insACAAC	ENST00000334464.5	-	5	2991_2992	c.2752_2753insGTTGT	c.(2752-2754)cctfs	p.P918fs		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	918					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ATCAACACGAGGAGGCAGGCCT	0.431		NA											False	0	True	10:119043491	0
CDHR5	53841	broad.mit.edu	37	11	619121	619122	+	In_Frame_Ins	INS	-	-	TCAGCCGAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:619121_619122insTCAGCCGAT	ENST00000358353.3	-	14	1759_1760	c.1437_1438insATCGGCTGA	c.(1435-1440)tccgag>tccATCGGCTGAgag	p.479_480SE>SIG*E	CDHR5_ENST00000397542.2_In_Frame_Ins_p.479_480SE>SIG*E|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	479					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CTGGGGACCTCGGAAGTGGTGC	0.688		NA											False	0	False	11:619121	0
TRIM22	10346	broad.mit.edu	37	11	5729472	5729473	+	Frame_Shift_Ins	INS	-	-	TACTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:5729472_5729473insTACTT	ENST00000379965.3	+	6	1120_1121	c.843_844insTACTT	c.(844-846)gatfs	p.D282fs	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	282					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TCCGAGTACCAGATCTGAGTGG	0.426		NA											False	0	False	11:5729472	0
SMPD1	6609	broad.mit.edu	37	11	6412799	6412800	+	Frame_Shift_Ins	INS	-	-	CCTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:6412799_6412800insCCTC	ENST00000342245.4	+	2	672_673	c.504_505insCCTC	c.(505-507)cacfs	p.H169fs	SMPD1_ENST00000356761.2_Frame_Shift_Ins_p.H169fs|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000299397.3_Frame_Shift_Ins_p.H169fs|SMPD1_ENST00000527275.1_Frame_Shift_Ins_p.H168fs	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	167	Saposin B-type.				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CCACCTGTGGGCACTGGGACAT	0.619		NA											False	0	True	11:6412799	0
FAR1	84188	broad.mit.edu	37	11	13732418	13732419	+	Splice_Site	INS	-	-	ATATTTTACTATAAAATAAAAAGCTACT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:13732418_13732419insATATTTTACTATAAAATAAAAAGCTACT	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
LDHAL6A	160287	broad.mit.edu	37	11	18485613	18485614	+	Frame_Shift_Ins	INS	-	-	GTGATCTATGTCTAGCTTGTGAATTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:18485613_18485614insGTGATCTATGTCTAGCTTGTGAATTA	ENST00000280706.2	+	2	1029_1030	c.232_233insGTGATCTATGTCTAGCTTGTGAATTA	c.(232-234)gtcfs	p.V78fs	LDHAL6A_ENST00000396213.3_Frame_Shift_Ins_p.V78fs	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	78					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	GCCAAATATTGTCTCCAGCAAA	0.351		NA											False	0	False	11:18485613	0
LUZP2	338645	broad.mit.edu	37	11	25004806	25004807	+	Frame_Shift_Ins	INS	-	-	TAATT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:25004806_25004807insTAATT	ENST00000533227.1	+	9	761_762	c.474_475insTAATT	c.(475-477)tctfs	p.S159fs	LUZP2_ENST00000336930.6_Frame_Shift_Ins_p.S245fs	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	245						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GGAATATTGCCTCTAAGCTTCC	0.441		NA											False	0	False	11:25004806	0
LGR4	55366	broad.mit.edu	37	11	27407010	27407011	+	In_Frame_Ins	INS	-	-	TCCCTTTTAATTCCATAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:27407010_27407011insTCCCTTTTAATTCCATAT	ENST00000480977.2	-	3	273_274	c.262_263insATATGGAATTAAAAGGGA	c.(262-264)tta>tATATGGAATTAAAAGGGAta	p.88_88L>YMELKGI	LGR4_ENST00000379214.4_In_Frame_Ins_p.136_136L>YMELKGI|LGR4_ENST00000389858.4_In_Frame_Ins_p.112_112L>YMELKGI			Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	88						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GTTGGCATCTAAACGCCTAACA	0.426		NA											False	0	True	11:27407010	0
SYCP1	6847	broad.mit.edu	37	1	115401257	115401258	+	Frame_Shift_Ins	INS	-	-	AAAATATCCAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:115401257_115401258insAAAATATCCAT	ENST00000369522.3	+	6	621_622	c.381_382insAAAATATCCAT	c.(382-384)agafs	p.R128fs	SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.R128fs	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	128					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGCTGAACTGAGACAGAAAGA	0.342		NA											False	0	False	1:115401257	0
GLYATL1	92292	broad.mit.edu	37	11	58722819	58722820	+	Frame_Shift_Ins	INS	-	-	ACCTCAGTGC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:58722819_58722820insACCTCAGTGC	ENST00000300079.5	+	6	627_628	c.577_578insACCTCAGTGC	c.(577-579)tttfs	p.F193fs	GLYATL1_ENST00000317391.4_Frame_Shift_Ins_p.F162fs|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	162						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AGATGATGAATTTGAAAGGTAC	0.396		NA											False	0	True	11:58722819	0
NXF1	10482	broad.mit.edu	37	11	62564003	62564004	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:62564003_62564004insA	ENST00000532297.1	-	15	1843_1844	c.1214_1215insT	c.(1213-1215)gggfs	p.G405fs	NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Frame_Shift_Ins_p.G405fs			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	405	NTF2.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATCCAGGAGCCCTTGTCGGTC	0.51		NA											False	0	True	11:62564003	0
MEN1	0	broad.mit.edu	37	11	64575469	64575470	+	Frame_Shift_Ins	INS	-	-	ACATAGGA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:64575469_64575470insACATAGGA	ENST00000377316.2	-	2	922_923	c.547_548insTCCTATGT	c.(547-549)tggfs	p.W183fs	MEN1_ENST00000377326.3_Frame_Shift_Ins_p.W183fs|MEN1_ENST00000337652.1_Frame_Shift_Ins_p.W188fs|MEN1_ENST00000312049.6_Frame_Shift_Ins_p.W183fs|MEN1_ENST00000394376.1_Frame_Shift_Ins_p.W188fs|MEN1_ENST00000377321.1_Splice_Site_p.W183fs|MEN1_ENST00000394374.2_Frame_Shift_Ins_p.W188fs|MEN1_ENST00000443283.1_Frame_Shift_Ins_p.W188fs|MEN1_ENST00000315422.4_Frame_Shift_Ins_p.W183fs|MEN1_ENST00000377313.1_Frame_Shift_Ins_p.W188fs			O00255	MEN1_HUMAN	multiple endocrine neoplasia I	188					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.W183*(1)|p.W183R(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						AAACACTACCCAGGCATGATCC	0.639		NA	"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				False	0	True	11:64575469	0
EHBP1L1	254102	broad.mit.edu	37	11	65350390	65350391	+	In_Frame_Ins	INS	-	-	TATCTTCTATCTTCA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:65350390_65350391insTATCTTCTATCTTCA	ENST00000309295.4	+	9	2512_2513	c.2247_2248insTATCTTCTATCTTCA	c.(2248-2250)gta>TATCTTCTATCTTCAgta	p.749_750insYLLSS		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	749	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CTGACATATTGGTAGCCCAGGA	0.505		NA											False	0	False	11:65350390	0
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
B3GNT6	192134	broad.mit.edu	37	11	76750683	76750684	+	In_Frame_Ins	INS	-	-	AAAAAGGAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:76750683_76750684insAAAAAGGAA	ENST00000533140.1	+	2	226_227	c.88_89insAAAAAGGAA	c.(88-90)ttc>tAAAAAGGAAtc	p.30_30F>*KGI	B3GNT6_ENST00000354301.5_In_Frame_Ins_p.30_30F>*KGI|B3GNT6_ENST00000421061.1_Intron			Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	30					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						GCAGCAGTGGTTCCTCCAGGCG	0.678		NA									OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:76750683	0
FAT3	120114	broad.mit.edu	37	11	92532233	92532234	+	Frame_Shift_Ins	INS	-	-	ATGTAGTG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:92532233_92532234insATGTAGTG	ENST00000525166.1	+	9	5626_5627	c.5604_5605insATGTAGTG	c.(5605-5607)atcfs	p.I1869fs	FAT3_ENST00000409404.2_Frame_Shift_Ins_p.I2019fs|FAT3_ENST00000298047.6_Frame_Shift_Ins_p.I2019fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2019	Cadherin 16.				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)				TAAAATACAGCATCTTAAACCC	0.406		NA								TCGA Ovarian(4;0.039)			False	0	False	11:92532233	0
ATM	472	broad.mit.edu	37	11	108173724	108173725	+	In_Frame_Ins	INS	-	-	TATAAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:108173724_108173725insTATAAC	ENST00000452508.2	+	37	5653_5654	c.5464_5465insTATAAC	c.(5464-5466)gaa>gTATAACaa	p.1822_1822E>V*Q	ATM_ENST00000278616.4_In_Frame_Ins_p.1822_1822E>V*Q			Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1822					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.E1822*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CACAAAATGTGAAATTCTTCAA	0.337		NA	"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			False	0	True	11:108173724	0
KCNA6	3742	broad.mit.edu	37	12	4920089	4920090	+	In_Frame_Ins	INS	-	-	TGGGGT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:4920089_4920090insTGGGGT	ENST00000280684.3	+	1	1748_1749	c.882_883insTGGGGT	c.(883-885)atc>TGGGGTatc	p.294_295insWG	KCNA6_ENST00000433855.1_In_Frame_Ins_p.294_295insWG			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	294						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TCTTCCGGAACATCATGAACAT	0.569		NA								HNSCC(72;0.22)			False	0	False	12:4920089	0
SLC2A3	6515	broad.mit.edu	37	12	8075534	8075535	+	Frame_Shift_Ins	INS	-	-	CCTAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:8075534_8075535insCCTAT	ENST00000075120.7	-	9	1394_1395	c.1154_1155insATAGG	c.(1153-1155)cccfs	p.-385fs		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	NA					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CAATAAACCAGGGAATGGGGCC	0.535		NA											False	0	True	12:8075534	0
C3AR1	719	broad.mit.edu	37	12	8212240	8212241	+	Frame_Shift_Ins	INS	-	-	TATTTAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:8212240_8212241insTATTTAA	ENST00000307637.4	-	2	744_745	c.541_542insTTAAATA	c.(541-543)tcafs	p.S181fs		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	181					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		ATAATCTAATGAGCTGGAGAGA	0.426		NA											False	0	False	12:8212240	0
C12orf60	144608	broad.mit.edu	37	12	14976418	14976419	+	Frame_Shift_Del	DEL	TA	TA	-	rs10556010		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:14976418_14976419delTA	ENST00000330828.2	+	2	753_754	c.549_550delTA	c.(547-552)actatgfs	p.M184fs	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	184										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						CCAAAACCACTATGATAGACAC	0.401		NA											False	1	False	12:14976418	0
PYROXD1	79912	broad.mit.edu	37	12	21609031	21609032	+	Splice_Site	INS	-	-	GAAATTAAATAATATAAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:21609031_21609032insGAAATTAAATAATATAAAA	ENST00000538582.1	+	7	1290		c.e7+2		PYROXD1_ENST00000240651.9_Splice_Site|PYROXD1_ENST00000545178.1_Splice_Site			Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	NA							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						ACAAAAGAGGTATCTTTTCATA	0.322		NA											False	0	False	12:21609031	0
CCDC91	55297	broad.mit.edu	37	12	28459820	28459821	+	Frame_Shift_Ins	INS	-	-	ACACAAGAGAGGAAAG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:28459820_28459821insACACAAGAGAGGAAAG	ENST00000545336.1	+	8	832_833	c.413_414insACACAAGAGAGGAAAG	c.(412-417)atttcafs	p.S139fs	CCDC91_ENST00000381259.1_Frame_Shift_Ins_p.S139fs|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Frame_Shift_Ins_p.S139fs|CCDC91_ENST00000306172.5_Frame_Shift_Ins_p.S109fs|CCDC91_ENST00000539107.1_Frame_Shift_Ins_p.S139fs			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	139					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					CAGCAAAAAATTTCAAGTCTGG	0.327		NA											False	0	True	12:28459820	0
CCDC91	55297	broad.mit.edu	37	12	28459822	28459823	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:28459822_28459823insTA	ENST00000545336.1	+	8	834_835	c.415_416insTA	c.(415-417)tcafs	p.S139fs	CCDC91_ENST00000381259.1_Frame_Shift_Ins_p.S139fs|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Frame_Shift_Ins_p.S139fs|CCDC91_ENST00000306172.5_Frame_Shift_Ins_p.S109fs|CCDC91_ENST00000539107.1_Frame_Shift_Ins_p.S139fs			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	139					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GCAAAAAATTTCAAGTCTGGAG	0.332		NA											False	0	True	12:28459822	0
POGZ	23126	broad.mit.edu	37	1	151400880	151400881	+	Frame_Shift_Ins	INS	-	-	GCAAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:151400880_151400881insGCAAC	ENST00000271715.2	-	6	891_892	c.577_578insGTTGC	c.(577-579)accfs	p.T193fs	POGZ_ENST00000392723.1_Frame_Shift_Ins_p.T140fs|POGZ_ENST00000361398.3_Frame_Shift_Ins_p.T140fs|POGZ_ENST00000409503.1_Frame_Shift_Ins_p.T193fs|POGZ_ENST00000368863.2_Frame_Shift_Ins_p.T98fs|POGZ_ENST00000491586.1_Frame_Shift_Ins_p.T140fs|POGZ_ENST00000531094.1_Frame_Shift_Ins_p.T140fs|POGZ_ENST00000540984.1_Intron	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	193					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AACAAACTGGGTACCTGGGGCT	0.5		NA											False	0	True	1:151400880	0
SCAF11	9169	broad.mit.edu	37	12	46320520	46320521	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:46320520_46320521insCC	ENST00000465950.1	-	1	3227_3228	c.2018_2019insGG	c.(2017-2019)gacfs	p.D673fs	SCAF11_ENST00000419565.2_Frame_Shift_Ins_p.D988fs|SCAF11_ENST00000549162.1_Frame_Shift_Ins_p.D796fs|SCAF11_ENST00000369367.3_Frame_Shift_Ins_p.D988fs			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	988					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GTTTCTCTGGGTCATTCTTTCT	0.411		NA											False	0	True	12:46320520	0
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENST00000301067.7	-	10	2373_2426	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel	p.AEGPHLSPQPEELHLSPQ792del		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						GCTCCTCAGTCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGCCTGGGGGGAC	0.638		NA											False	1	False	12:49445039	0
ATP2B1	490	broad.mit.edu	37	12	89984864	89984865	+	Frame_Shift_Ins	INS	-	-	AAAGAAACAAATTGAAACTGGG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:89984864_89984865insAAAGAAACAAATTGAAACTGGG	ENST00000428670.3	-	21	4015_4016	c.3559_3560insCCCAGTTTCAATTTGTTTCTTT	c.(3559-3561)aacfs	p.N1187fs	ATP2B1_ENST00000393164.2_Frame_Shift_Ins_p.N930fs|ATP2B1_ENST00000261173.2_Frame_Shift_Ins_p.N1187fs|ATP2B1_ENST00000348959.3_Frame_Shift_Ins_p.N1151fs|RP11-981P6.1_ENST00000552778.1_RNA|ATP2B1_ENST00000359142.3_3'UTR			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1225					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AACAGCATTGTTATTTTTGTTG	0.441		NA											False	0	False	12:89984864	0
SP7	121340	broad.mit.edu	37	12	53723136	53723137	+	Frame_Shift_Ins	INS	-	-	TGCTAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:53723136_53723137insTGCTAAT	ENST00000537210.2	-	2	264_265	c.35_36insATTAGCA	c.(34-36)tctfs	p.-12fs	SP7_ENST00000536324.2_Frame_Shift_Ins_p.-30fs|SP7_ENST00000303846.3_Frame_Shift_Ins_p.-30fs			Q8TDD2	SP7_HUMAN	Sp7 transcription factor	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GCAGAGGGCTAGAGCCACCAAA	0.569		NA											False	0	False	12:53723136	0
APPL2	55198	broad.mit.edu	37	12	105610895	105610896	+	Frame_Shift_Ins	INS	-	-	ATATCTGAGAAGGTATC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:105610895_105610896insATATCTGAGAAGGTATC	ENST00000258530.3	-	4	461_462	c.236_237insGATACCTTCTCAGATAT	c.(235-237)gatfs	p.D79fs	APPL2_ENST00000539978.2_Frame_Shift_Ins_p.D36fs|APPL2_ENST00000551662.1_Frame_Shift_Ins_p.D79fs	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	79	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTACTTCTTCATCACCTTTGCC	0.376		NA											False	0	False	12:105610895	0
CCDC63	160762	broad.mit.edu	37	12	111322040	111322041	+	Frame_Shift_Ins	INS	-	-	AGCTCCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:111322040_111322041insAGCTCCT	ENST00000545036.1	+	7	1197_1198	c.940_941insAGCTCCT	c.(940-942)accfs	p.T314fs	CCDC63_ENST00000308208.5_Frame_Shift_Ins_p.T354fs|CCDC63_ENST00000552694.1_Frame_Shift_Ins_p.T275fs			Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	354										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GCACAAGAGGACCCAACGAATC	0.554		NA											False	0	True	12:111322040	0
ATXN2	6311	broad.mit.edu	37	12	111908548	111908549	+	Splice_Site	DEL	TG	TG	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:111908548_111908549delTG	ENST00000542287.2	-	19	2366		c.e19-2		ATXN2_ENST00000389153.4_Splice_Site|ATXN2_ENST00000377617.3_Splice_Site|ATXN2_ENST00000535949.1_Splice_Site|ATXN2_ENST00000550104.1_Splice_Site			Q99700	ATX2_HUMAN	ataxin 2	NA					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TATTTGGTACTGCAGAAAAAAA	0.51		NA											False	1	False	12:111908548	0
RPL6	6128	broad.mit.edu	37	12	112846370	112846371	+	Frame_Shift_Ins	INS	-	-	GAAAAGAAAAAGAAGGAGA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:112846370_112846371insGAAAAGAAAAAGAAGGAGA	ENST00000424576.2	-	2	275_276	c.90_91insTCTCCTTCTTTTTCTTTTC	c.(88-93)ggtaacfs	p.N31fs	RPL6_ENST00000202773.9_Frame_Shift_Ins_p.N31fs	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	31					endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						GCTTTGAGGTTACCCTTTTTCA	0.47		NA											False	0	True	12:112846370	0
HCAR1	27198	broad.mit.edu	37	12	123214228	123214229	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:123214228_123214229insT	ENST00000436083.2	-	1	1161_1162	c.658_659insA	c.(658-660)cggfs	p.R220fs	HCAR1_ENST00000356987.2_Frame_Shift_Ins_p.R220fs|HCAR1_ENST00000432564.1_Frame_Shift_Ins_p.R220fs			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	220					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						CATGATGAACCGGGTCGCCTTC	0.554		NA											False	0	True	12:123214228	0
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs142857579		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661		NA											False	1	False	1:152671515	0
DZIP1	22873	broad.mit.edu	37	13	96242648	96242649	+	In_Frame_Ins	INS	-	-	AGATAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr13:96242648_96242649insAGATAT	ENST00000361396.2	-	16	2508_2509	c.1670_1671insATATCT	c.(1669-1671)agt>agATATCTt	p.557_557S>RYL	DZIP1_ENST00000361156.3_In_Frame_Ins_p.557_557S>RYL|DZIP1_ENST00000376829.2_In_Frame_Ins_p.576_576S>RYL|DZIP1_ENST00000347108.3_In_Frame_Ins_p.576_576S>RYL	NM_014934.4	NP_055749.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	576					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CTGATTCCACACTTTTTAGTAC	0.361		NA											False	0	True	13:96242648	0
DZIP1	22873	broad.mit.edu	37	13	96242649	96242650	+	Frame_Shift_Ins	INS	-	-	ATTAAACAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr13:96242649_96242650insATTAAACAAA	ENST00000361396.2	-	16	2507_2508	c.1669_1670insTTTGTTTAAT	c.(1669-1671)agtfs	p.S557fs	DZIP1_ENST00000361156.3_Frame_Shift_Ins_p.S557fs|DZIP1_ENST00000376829.2_Frame_Shift_Ins_p.S576fs|DZIP1_ENST00000347108.3_Frame_Shift_Ins_p.S576fs	NM_014934.4	NP_055749.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	576					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TGATTCCACACTTTTTAGTACT	0.361		NA											False	0	True	13:96242649	0
HAUS4	54930	broad.mit.edu	37	14	23417134	23417135	+	In_Frame_Ins	INS	-	-	ACT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:23417134_23417135insACT	ENST00000206474.7	-	7	902_903	c.650_651insAGT	c.(649-651)aag>aaAGTg	p.217_218insV	HAUS4_ENST00000555986.1_In_Frame_Ins_p.172_173insV|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000342454.8_In_Frame_Ins_p.172_173insV|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000490506.1_In_Frame_Ins_p.93_94insV|HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000541587.1_In_Frame_Ins_p.217_218insV|RP11-298I3.5_ENST00000555074.1_In_Frame_Ins_p.46_47QE>QSE|HAUS4_ENST00000555367.1_In_Frame_Ins_p.172_173insV|HAUS4_ENST00000554446.1_Intron			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	217					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						TCTGCTGGCTCTTGGCATCCTG	0.559		NA											False	0	False	14:23417134	0
ACIN1	22985	broad.mit.edu	37	14	23549369	23549370	+	Frame_Shift_Ins	INS	-	-	GAATGTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:23549369_23549370insGAATGTC	ENST00000262710.1	-	6	1675_1676	c.1348_1349insGACATTC	c.(1348-1350)attfs	p.I450fs	ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.I450fs|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.I392fs|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.I410fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	450					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGATAACTGAATGAGGACAGCG	0.495		NA											False	0	False	14:23549369	0
AP1G2	8906	broad.mit.edu	37	14	24031614	24031615	+	Frame_Shift_Ins	INS	-	-	ACCCCCTAGC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:24031614_24031615insACCCCCTAGC	ENST00000308724.5	-	15	2265_2266	c.1510_1511insGCTAGGGGGT	c.(1510-1512)gagfs	p.E504fs	AP1G2_ENST00000397120.3_Frame_Shift_Ins_p.E504fs|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	504					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CAGCACTTCCTCTTCGTCCACC	0.574		NA									OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	14:24031614	0
HEATR5A	25938	broad.mit.edu	37	14	31765237	31765238	+	In_Frame_Ins	INS	-	-	ACAATTTTTTTATTTTTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:31765237_31765238insACAATTTTTTTATTTTTA	ENST00000543095.2	-	34	5680_5681	c.5496_5497insTAAAAATAAAAAAATTGT	c.(5494-5499)gtcagt>gtcTAAAAATAAAAAAATTGTagt	p.1832_1833VS>V*K*KNCS	HEATR5A_ENST00000439348.1_In_Frame_Ins_p.1751_1752VS>V*K*KNCS|HEATR5A_ENST00000389961.3_In_Frame_Ins_p.1826_1827VS>V*K*KNCS|RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439727.1_In_Frame_Ins_p.1539_1540VS>V*K*KNCS	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1826							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GTAAGTAGACTGACTTCATCAA	0.366		NA											False	0	True	14:31765237	0
ATG2B	55102	broad.mit.edu	37	14	96808039	96808044	+	Splice_Site	DEL	CTACAA	CTACAA	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	CTACAA	CTACAA	-	-	CTACAA	CTACAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:96808039_96808044delCTACAA	ENST00000359933.4	-	6	1638		c.e6-1			NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	NA										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GCTCAGTTTCCTACAATAAAGTGACa	0.301		NA											False	1	False	14:96808039	0
EIF5	1983	broad.mit.edu	37	14	103804729	103804730	+	In_Frame_Ins	INS	-	-	CTACCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:103804729_103804730insCTACCT	ENST00000216554.3	+	7	1181_1182	c.505_506insCTACCT	c.(505-507)gaa>gCTACCTaa	p.169_169E>AT*	EIF5_ENST00000392715.2_In_Frame_Ins_p.169_169E>AT*|EIF5_ENST00000558506.1_In_Frame_Ins_p.169_169E>AT*	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	169					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			caaagacaaggaaaATGGCTCC	0.421		NA											False	0	True	14:103804729	0
IGSF8	93185	broad.mit.edu	37	1	160062127	160062128	+	In_Frame_Ins	INS	-	-	TATCTCTCTCCTCCA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:160062127_160062128insTATCTCTCTCCTCCA	ENST00000368086.1	-	5	1886_1887	c.1670_1671insTGGAGGAGAGAGATA	c.(1669-1671)tgg>tgTGGAGGAGAGAGATAg	p.557_557W>CGGER*	IGSF8_ENST00000314485.7_In_Frame_Ins_p.557_557W>CGGER*			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	557	Ig-like C2-type 4.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCGCCTGGTACCAGCTGTAGTC	0.644		NA											False	0	False	1:160062127	0
SNHG14	0	broad.mit.edu	37	15	25230366	25230367	+	RNA	INS	-	-	CTGCAGATAGTGTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:25230366_25230367insCTGCAGATAGTGTA	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA	NR_001293.1					NA											NA						AACATAAATTCTTAGACTCTAA	0.371		NA											False	0	False	15:25230366	0
ZSCAN29	146050	broad.mit.edu	37	15	43658416	43658418	+	In_Frame_Del	DEL	CCT	CCT	-	rs10556664		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:43658416_43658418delCCT	ENST00000396976.2	-	3	1246_1248	c.1112_1114delAGG	c.(1111-1116)gaggga>gga	p.E371del	ZSCAN29_ENST00000562072.1_In_Frame_Del_p.E370del|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000396972.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	371					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCTTCTGCTCCCTCCTCATGCTG	0.601		NA											False	2	True	15:43658416	0
MAP1A	4130	broad.mit.edu	37	15	43822015	43822016	+	In_Frame_Ins	INS	-	-	ATT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:43822015_43822016insATT	ENST00000382031.1	+	6	8948_8949	c.8917_8918insATT	c.(8917-8919)gct>gATTct	p.2973_2973A>DS	MAP1A_ENST00000399453.1_In_Frame_Ins_p.2735_2735A>DS|MAP1A_ENST00000300231.5_In_Frame_Ins_p.2735_2735A>DS			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2735						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCCAAGCCGGGCTGTGCTGGAT	0.574		NA											False	0	True	15:43822015	0
MAP1A	4130	broad.mit.edu	37	15	43822016	43822017	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:43822016_43822017insAT	ENST00000382031.1	+	6	8949_8950	c.8918_8919insAT	c.(8917-8922)gctgtgfs	p.V2974fs	MAP1A_ENST00000399453.1_Frame_Shift_Ins_p.V2736fs|MAP1A_ENST00000300231.5_Frame_Shift_Ins_p.V2736fs			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2736						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCAAGCCGGGCTGTGCTGGATG	0.579		NA											False	0	False	15:43822016	0
BLOC1S6	26258	broad.mit.edu	37	15	45898690	45898691	+	Frame_Shift_Ins	INS	-	-	TTTGAGGTAATTCATTCACACTAATAAACTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:45898690_45898691insTTTGAGGTAATTCATTCACACTAATAAACTT	ENST00000568816.1	+	6	795_796	c.206_207insTTTGAGGTAATTCATTCACACTAATAAACTT	c.(205-210)gccagafs	p.R70fs	RP11-96O20.4_ENST00000564080.1_Intron|BLOC1S6_ENST00000562384.1_Frame_Shift_Ins_p.R70fs|BLOC1S6_ENST00000564765.1_Frame_Shift_Ins_p.R41fs|BLOC1S6_ENST00000220531.3_Frame_Shift_Ins_p.R167fs|BLOC1S6_ENST00000565409.1_Frame_Shift_Ins_p.R70fs|BLOC1S6_ENST00000565216.1_Frame_Shift_Ins_p.R126fs|BLOC1S6_ENST00000565323.1_Frame_Shift_Ins_p.R172fs|BLOC1S6_ENST00000567461.1_Frame_Shift_Ins_p.R70fs|BLOC1S6_ENST00000567740.1_3'UTR					biogenesis of lysosomal organelles complex-1, subunit 6, pallidin	NA											NA						CAGTTAACTGCCAGACCAGCCA	0.426		NA											False	0	False	15:45898690	0
ARPP19	10776	broad.mit.edu	37	15	52849410	52849411	+	Frame_Shift_Ins	INS	-	-	AGGTATGTACATATGTGTATATGTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:52849410_52849411insAGGTATGTACATATGTGTATATGTA	ENST00000566423.1	-	3	187_188	c.54_55insTACATATACACATATGTACATACCT	c.(52-57)gaagatfs	p.D19fs	ARPP19_ENST00000561650.1_Frame_Shift_Ins_p.D3fs|ARPP19_ENST00000569281.2_Frame_Shift_Ins_p.D19fs|ARPP19_ENST00000249822.4_Frame_Shift_Ins_p.D19fs|ARPP19_ENST00000563277.1_Frame_Shift_Ins_p.D3fs|ARPP19_ENST00000561971.1_Frame_Shift_Ins_p.D38fs|ARPP19_ENST00000568196.1_Frame_Shift_Ins_p.D3fs|ARPP19_ENST00000564163.1_Frame_Shift_Ins_p.D38fs|ARPP19_ENST00000569723.1_Intron|ARPP19_ENST00000563566.1_Frame_Shift_Ins_p.D3fs|ARPP19_ENST00000567669.1_Frame_Shift_Ins_p.D19fs			P56211	ARP19_HUMAN	cAMP-regulated phosphoprotein, 19kDa	19					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of gluconeogenesis|positive regulation of glucose import	cytoplasm	potassium channel regulator activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						GTCACTTTATCTTCCATTTCCT	0.312		NA											False	0	False	15:52849410	0
RFX7	64864	broad.mit.edu	37	15	56386171	56386172	+	Frame_Shift_Ins	INS	-	-	GTAATAGCAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:56386171_56386172insGTAATAGCAC	ENST00000559447.2	-	9	3734_3735	c.3463_3464insGTGCTATTAC	c.(3463-3465)gttfs	p.V1155fs	RFX7_ENST00000422057.1_Frame_Shift_Ins_p.V1155fs|RFX7_ENST00000317318.6_Frame_Shift_Ins_p.V1252fs|RFX7_ENST00000423270.1_Frame_Shift_Ins_p.V1252fs			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1155					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACTCAACAAAACATTGGTTATT	0.421		NA											False	0	True	15:56386171	0
POLR2M	81488	broad.mit.edu	37	15	58006834	58006835	+	In_Frame_Ins	INS	-	-	ATC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:58006834_58006835insATC	ENST00000299638.3	+	4	1278_1279	c.1064_1065insATC	c.(1063-1068)gaagta>gaATCagta	p.355_356EV>ESV	POLR2M_ENST00000380563.2_Intron|POLR2M_ENST00000380557.4_In_Frame_Ins_p.198_199EV>ESV|GCOM1_ENST00000380568.3_3'UTR|GCOM1_ENST00000380569.2_In_Frame_Ins_p.537_538EV>ESV|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000587652.1_In_Frame_Ins_p.752_753EV>ESV	NM_015532.3	NP_056347.1			polymerase (RNA) II (DNA directed) polypeptide M	NA											NA						AGATACCGAGAAGTAAGGGATG	0.406		NA											False	0	False	15:58006834	0
POLR2M	81488	broad.mit.edu	37	15	58006836	58006837	+	In_Frame_Ins	INS	-	-	CAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:58006836_58006837insCAA	ENST00000299638.3	+	4	1280_1281	c.1066_1067insCAA	c.(1066-1068)gta>gCAAta	p.356_356V>AI	POLR2M_ENST00000380563.2_Intron|POLR2M_ENST00000380557.4_In_Frame_Ins_p.199_199V>AI|GCOM1_ENST00000380568.3_3'UTR|GCOM1_ENST00000380569.2_In_Frame_Ins_p.538_538V>AI|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000587652.1_In_Frame_Ins_p.753_753V>AI	NM_015532.3	NP_056347.1			polymerase (RNA) II (DNA directed) polypeptide M	NA											NA						ATACCGAGAAGTAAGGGATGAA	0.406		NA											False	0	False	15:58006836	0
GLCE	26035	broad.mit.edu	37	15	69548620	69548621	+	Frame_Shift_Ins	INS	-	-	GAAG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:69548620_69548621insGAAG	ENST00000559420.2	+	1	488_489	c.283_284insGAAG	c.(283-285)tccfs	p.-94fs	GLCE_ENST00000261858.2_Frame_Shift_Ins_p.-158fs			O94923	GLCE_HUMAN	glucuronic acid epimerase	NA					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TCATAGCTATTCCAAAGTCTAT	0.416		NA											False	0	False	15:69548620	0
GLYR1	84656	broad.mit.edu	37	16	4861283	4861284	+	Frame_Shift_Ins	INS	-	-	TTTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:4861283_4861284insTTTTT	ENST00000321919.9	-	15	1550_1551	c.1474_1475insAAAAA	c.(1474-1476)ggafs	p.G492fs	GLYR1_ENST00000591451.1_Frame_Shift_Ins_p.G486fs|GLYR1_ENST00000381983.3_Frame_Shift_Ins_p.G475fs|GLYR1_ENST00000436648.5_Frame_Shift_Ins_p.G411fs	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	492					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	p.G492*(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CTTAAAGTTTCCTTGCAGGATA	0.46		NA											False	0	False	16:4861283	0
GLYR1	84656	broad.mit.edu	37	16	4861284	4861285	+	Frame_Shift_Ins	INS	-	-	TTTCTTTTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:4861284_4861285insTTTCTTTTTT	ENST00000321919.9	-	15	1549_1550	c.1473_1474insAAAAAAGAAA	c.(1471-1476)caaggafs	p.G492fs	GLYR1_ENST00000591451.1_Frame_Shift_Ins_p.G486fs|GLYR1_ENST00000381983.3_Frame_Shift_Ins_p.G475fs|GLYR1_ENST00000436648.5_Frame_Shift_Ins_p.G411fs	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	492					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	p.G492*(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TTAAAGTTTCCTTGCAGGATAT	0.46		NA											False	0	False	16:4861284	0
C1orf112	55732	broad.mit.edu	37	1	169822098	169822100	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	GCT	GCT	-	-	GCT	GCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:169822098_169822100delGCT	ENST00000286031.6	+	24	3232_3234	c.2532_2534delGCT	c.(2530-2535)aagcta>aaa	p.L845del	C1orf112_ENST00000359326.4_In_Frame_Del_p.L845del|C1orf112_ENST00000498289.1_3'UTR|SCYL3_ENST00000367772.4_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	845										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGATGGATAAGCTAAAACGTTAC	0.433		NA											False	1	False	1:169822098	0
KLHL20	27252	broad.mit.edu	37	1	173726276	173726277	+	In_Frame_Ins	INS	-	-	ATC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:173726276_173726277insATC	ENST00000209884.4	+	7	1265_1266	c.1129_1130insATC	c.(1129-1131)tct>tATCct	p.377_377S>YP	KLHL20_ENST00000546011.1_In_Frame_Ins_p.188_188S>YP	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	377					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TGATGGATCCTCTTATCTCAAT	0.371		NA											False	0	False	1:173726276	0
KLHL20	27252	broad.mit.edu	37	1	173726278	173726279	+	In_Frame_Ins	INS	-	-	GAAGCA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:173726278_173726279insGAAGCA	ENST00000209884.4	+	7	1267_1268	c.1131_1132insGAAGCA	c.(1132-1134)tat>GAAGCAtat	p.377_378insEA	KLHL20_ENST00000546011.1_In_Frame_Ins_p.188_189insEA	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	377					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ATGGATCCTCTTATCTCAATAG	0.366		NA											False	0	False	1:173726278	0
CENPL	91687	broad.mit.edu	37	1	173776634	173776635	+	In_Frame_Ins	INS	-	-	AGGGAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:173776634_173776635insAGGGAC	ENST00000356198.2	-	4	475_476	c.190_191insGTCCCT	c.(190-192)gtt>gGTCCCTtt	p.64_64V>GPF	CENPL_ENST00000345664.6_In_Frame_Ins_p.64_64V>GPF|CENPL_ENST00000367710.3_In_Frame_Ins_p.64_64V>GPF	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	64					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						AAGGAATGCAACCTTTTGAGGG	0.287		NA											False	0	False	1:173776634	0
GAS5	0	broad.mit.edu	37	1	173835779	173835780	+	RNA	INS	-	-	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:173835779_173835780insT	ENST00000363146.1	-	0	73_74					NR_003942.1					NA											NA						GGGTGCCTCAGTTAAGATAATG	0.416		NA											False	2	False	1:173835779	0
MKL2	57496	broad.mit.edu	37	16	14334575	14334576	+	Frame_Shift_Ins	INS	-	-	AAAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:14334575_14334576insAAAAT	ENST00000573051.1	+	9	1188_1189	c.1030_1031insAAAAT	c.(1030-1032)gccfs	p.A344fs	MKL2_ENST00000572567.1_3'UTR|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000341243.5_Intron|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000571589.1_Intron			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTTAGAAATGCCTTTTCACAA	0.371		NA											False	0	False	16:14334575	0
MKL2	57496	broad.mit.edu	37	16	14334576	14334577	+	In_Frame_Ins	INS	-	-	ATTACTGAGCACAAATAAATGACAACATTCAACTTTTGGTAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:14334576_14334577insATTACTGAGCACAAATAAATGACAACATTCAACTTTTGGTAA	ENST00000573051.1	+	9	1189_1190	c.1031_1032insATTACTGAGCACAAATAAATGACAACATTCAACTTTTGGTAA	c.(1030-1035)gccttt>gcATTACTGAGCACAAATAAATGACAACATTCAACTTTTGGTAActtt	p.344_345AF>ALLSTNK*QHSTFGNF	MKL2_ENST00000572567.1_3'UTR|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000341243.5_Intron|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000571589.1_Intron			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTTAGAAATGCCTTTTCACAAT	0.371		NA											False	0	True	16:14334576	0
C16orf87	388272	broad.mit.edu	37	16	46836909	46836910	+	Frame_Shift_Ins	INS	-	-	TGTCGTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:46836909_46836910insTGTCGTTT	ENST00000394806.2	-	3	248_249	c.236_237insAAACGACA	c.(235-237)ttgfs	p.-79fs	C16orf87_ENST00000285697.4_Frame_Shift_Ins_p.-140fs			Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	NA										large_intestine(4)|urinary_tract(1)	5						TTATTTCTGCCAAGGCGACTGA	0.337		NA											False	0	False	16:46836909	0
BRD7	29117	broad.mit.edu	37	16	50367590	50367592	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	AAG	AAG	-	-	AAG	AAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:50367590_50367592delAAG	ENST00000394688.3	-	8	1063_1065	c.904_906delCTT	c.(904-906)cttdel	p.L302del	BRD7_ENST00000394689.2_In_Frame_Del_p.L302del			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	302					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				ACTTATCTTCAAGCATATCTTTG	0.335		NA											False	1	False	16:50367590	0
SALL1	6299	broad.mit.edu	37	16	51172999	51173000	+	Frame_Shift_Ins	INS	-	-	CCCTGCTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:51172999_51173000insCCCTGCTC	ENST00000251020.4	-	2	3166_3167	c.3133_3134insGAGCAGGG	c.(3133-3135)aagfs	p.K1045fs	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Frame_Shift_Ins_p.K948fs	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1045					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CATGTGCTGCTTCAAATTACCC	0.475		NA											False	0	False	16:51172999	0
RLTPR	146206	broad.mit.edu	37	16	67686232	67686234	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:67686232_67686234delAGA	ENST00000334583.6	+	27	3135_3137	c.2807_2809delAGA	c.(2806-2811)gagaag>gag	p.K937del	RLTPR_ENST00000545661.1_In_Frame_Del_p.K901del	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	937	Pro-rich.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		aaggaagaggagaaggagaaggT	0.557		NA											False	1	True	16:67686232	0
DNAH9	1770	broad.mit.edu	37	17	11593732	11593733	+	Frame_Shift_Ins	INS	-	-	GAACTTG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:11593732_11593733insGAACTTG	ENST00000454412.2	+	20	4593_4594	c.4593_4594insGAACTTG	c.(4594-4596)attfs	p.I1532fs	DNAH9_ENST00000262442.3_Frame_Shift_Ins_p.I1532fs			Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1532	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GATCTGAAGATATTCGGGCACA	0.49		NA											False	0	False	17:11593732	0
ZNF286A	57335	broad.mit.edu	37	17	15609784	15609785	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:15609784_15609785insCA	ENST00000464847.2	+	3	763_764	c.210_211insCA	c.(211-213)ctgfs	p.L71fs	ZNF286A_ENST00000585194.1_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000593105.1_Frame_Shift_Ins_p.L61fs|ZNF286A_ENST00000395894.2_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000581529.1_Intron|ZNF286A_ENST00000395893.2_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000583566.1_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000580259.1_Intron|ZNF286A_ENST00000413242.2_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000421016.1_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000472486.1_Frame_Shift_Ins_p.L61fs			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	71	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GGGATGTGATGCTGGAGAACTA	0.401		NA											False	0	False	17:15609784	0
ZNF286A	57335	broad.mit.edu	37	17	15609786	15609787	+	Frame_Shift_Ins	INS	-	-	TAAGAGG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:15609786_15609787insTAAGAGG	ENST00000464847.2	+	3	765_766	c.212_213insTAAGAGG	c.(211-216)ctggagfs	p.E72fs	ZNF286A_ENST00000585194.1_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000593105.1_Frame_Shift_Ins_p.E62fs|ZNF286A_ENST00000395894.2_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000581529.1_Intron|ZNF286A_ENST00000395893.2_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000583566.1_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000580259.1_Intron|ZNF286A_ENST00000413242.2_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000421016.1_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000472486.1_Frame_Shift_Ins_p.E62fs			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GATGTGATGCTGGAGAACTATA	0.401		NA											False	0	False	17:15609786	0
MR1	3140	broad.mit.edu	37	1	181019221	181019222	+	Frame_Shift_Ins	INS	-	-	TCAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:181019221_181019222insTCAC	ENST00000367580.5	+	3	408_409	c.403_404insTCAC	c.(403-405)gcafs	p.A135fs	MR1_ENST00000434571.2_Frame_Shift_Ins_p.A135fs|MR1_ENST00000282990.6_Frame_Shift_Ins_p.A135fs|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	135	Alpha-2.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						TCTGCAGTATGCATATGACGGG	0.515		NA											False	0	False	1:181019221	0
ATAD5	79915	broad.mit.edu	37	17	29161911	29161912	+	Frame_Shift_Ins	INS	-	-	TGTGGTCCCTTGTTTAGGATTTACTTTTTTAG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:29161911_29161912insTGTGGTCCCTTGTTTAGGATTTACTTTTTTAG	ENST00000321990.4	+	2	1190_1191	c.812_813insTGTGGTCCCTTGTTTAGGATTTACTTTTTTAG	c.(811-816)ttaaaafs	p.LK271fs	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	271					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAGGAATTTTTAAAAAGTCACA	0.351		NA											False	0	True	17:29161911	0
EVI2B	2124	broad.mit.edu	37	17	29632121	29632122	+	Frame_Shift_Ins	INS	-	-	AGCTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:29632121_29632122insAGCTA	ENST00000330927.4	-	2	660_661	c.506_507insTAGCT	c.(505-507)caafs	p.Q169fs	EVI2B_ENST00000577894.1_Frame_Shift_Ins_p.Q169fs|EVI2B_ENST00000544462.1_Frame_Shift_Ins_p.Q184fs|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	169						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTGATGTTGGTTGTGTGGATGG	0.342		NA											False	0	True	17:29632121	0
SUZ12	23512	broad.mit.edu	37	17	30322748	30322749	+	Frame_Shift_Ins	INS	-	-	AAATAAATGTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	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	-	-	TTTATGGCCTCTACATG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:30322750_30322751insTTTATGGCCTCTACATG	ENST00000322652.5	+	14	1992_1993	c.1763_1764insTTTATGGCCTCTACATG	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
TNS4	84951	broad.mit.edu	37	17	38643522	38643523	+	Frame_Shift_Ins	INS	-	-	GTTTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:38643522_38643523insGTTTC	ENST00000254051.6	-	4	1211_1212	c.1053_1054insGAAAC	c.(1051-1056)ccaccafs	p.P352fs		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	352					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TTGGCCAGTGGTGGAGAGTGGG	0.584		NA											False	0	False	17:38643522	0
EZH1	2145	broad.mit.edu	37	17	40870623	40870624	+	In_Frame_Ins	INS	-	-	TGA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:40870623_40870624insTGA	ENST00000590078.1	-	8	779_780	c.569_570insTCA	c.(568-570)cta>ctTCAa	p.190_191insQ	EZH1_ENST00000415827.2_In_Frame_Ins_p.251_252insQ|EZH1_ENST00000435174.1_In_Frame_Ins_p.121_122insQ|EZH1_ENST00000592743.1_In_Frame_Ins_p.260_261insQ|EZH1_ENST00000585893.1_In_Frame_Ins_p.220_221insQ|EZH1_ENST00000428826.2_In_Frame_Ins_p.260_261insQ			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	260					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		ACATCTCTGTTAGTTCTCGATA	0.505		NA											False	0	False	17:40870623	0
GPATCH8	23131	broad.mit.edu	37	17	42475080	42475081	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:42475080_42475081insGA	ENST00000591680.1	-	8	4394_4395	c.4364_4365insTC	c.(4363-4365)cacfs	p.H1455fs	GPATCH8_ENST00000434000.1_Frame_Shift_Ins_p.H1377fs	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1455						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GTGGGACAGGGTGAAAGGTGAA	0.594		NA											False	0	True	17:42475080	0
KPNB1	3837	broad.mit.edu	37	17	45758029	45758030	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:45758029_45758030insG	ENST00000540627.1	+	20	2706_2707	c.2189_2190insG	c.(2188-2193)caagctfs	p.A731fs	KPNB1_ENST00000290158.4_Frame_Shift_Ins_p.A876fs|KPNB1_ENST00000537679.1_Frame_Shift_Ins_p.A660fs|KPNB1_ENST00000535458.2_Frame_Shift_Ins_p.A731fs			Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	876					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CTGAAGAACCAAGCTTGGTAAG	0.46		NA											False	0	False	17:45758029	0
INTS2	57508	broad.mit.edu	37	17	59969014	59969015	+	Frame_Shift_Ins	INS	-	-	TTCTTTTATATCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:59969014_59969015insTTCTTTTATATCT	ENST00000251334.6	-	14	2089_2090	c.1734_1735insAGATATAAAAGAA	c.(1732-1737)actccafs	p.P579fs	INTS2_ENST00000444766.3_Frame_Shift_Ins_p.P587fs			Q9H0H0	INT2_HUMAN	integrator complex subunit 2	587					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GGATGAAGTGGAGTAGAGGTTT	0.351		NA											False	0	False	17:59969014	0
LRRC37A3	374819	broad.mit.edu	37	17	62856364	62856365	+	In_Frame_Ins	INS	-	-	GTATCTGCTCCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:62856364_62856365insGTATCTGCTCCT	ENST00000584306.1	-	11	4429_4430	c.3899_3900insAGGAGCAGATAC	c.(3898-3900)cat>caAGGAGCAGATACt	p.1300_1300H>QGADT	LRRC37A3_ENST00000319651.5_In_Frame_Ins_p.1300_1300H>QGADT|LRRC37A3_ENST00000339474.5_In_Frame_Ins_p.418_418H>QGADT|LRRC37A3_ENST00000400877.3_In_Frame_Ins_p.338_338H>QGADT|LRRC37A3_ENST00000334962.5_In_Frame_Ins_p.277_277H>QGADT	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1300						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTTTTCTGGAATGTACGATGGG	0.411		NA											False	0	False	17:62856364	0
HELZ	9931	broad.mit.edu	37	17	65103458	65103459	+	Frame_Shift_Ins	INS	-	-	AAAAATATCAGTATTTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:65103458_65103459insAAAAATATCAGTATTTA	ENST00000358691.5	-	31	5233_5234	c.5067_5068insTAAATACTGATATTTTT	c.(5065-5070)caacagfs	p.Q1690fs	HELZ_ENST00000580168.1_Frame_Shift_Ins_p.Q1691fs	NM_014877.3	NP_055692.2			helicase with zinc finger	NA										NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGGTGATTCTGTTGCAAGTTAG	0.485		NA											False	0	False	17:65103458	0
HELZ	9931	broad.mit.edu	37	17	65103750	65103751	+	In_Frame_Ins	INS	-	-	ACAGCG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:65103750_65103751insACAGCG	ENST00000358691.5	-	31	4941_4942	c.4775_4776insCGCTGT	c.(4774-4776)cgg>cgCGCTGTg	p.1592_1593insAV	HELZ_ENST00000580168.1_In_Frame_Ins_p.1593_1594insAV	NM_014877.3	NP_055692.2			helicase with zinc finger	NA								p.R1592Q(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CAGCTAGTTCCCGTGTTTCACT	0.421		NA											False	0	True	17:65103750	0
KPNA2	3838	broad.mit.edu	37	17	66033612	66033623	+	Splice_Site	DEL	GTAAAAAATGTA	GTAAAAAATGTA	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	GTAAAAAATGTA	GTAAAAAATGTA	-	-	GTAAAAAATGTA	GTAAAAAATGTA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:66033612_66033623delGTAAAAAATGTA	ENST00000537025.2	+	3	833		c.e3+1		KPNA2_ENST00000330459.3_Splice_Site			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	NA					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAACAACCAGGTAAAAAATGTATTTTAGTTTA	0.368		NA											False	1	True	17:66033612	0
LRRC37A16P	0	broad.mit.edu	37	17	66126509	66126510	+	RNA	INS	-	-	ATTATTTTAAGTAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:66126509_66126510insATTATTTTAAGTAT	ENST00000590019.1	-	0	298										NA											NA						AAAGCAGTTACTTGAGTAGGCA	0.47		NA											False	0	False	17:66126509	0
CHMP1B	57132	broad.mit.edu	37	18	11851926	11851927	+	Frame_Shift_Ins	INS	-	-	TCATTCTCAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:11851926_11851927insTCATTCTCAA	ENST00000526991.2	+	1	532_533	c.416_417insTCATTCTCAA	c.(415-420)acgacgfs	p.T140fs	GNAL_ENST00000535121.1_Intron|GNAL_ENST00000423027.3_Intron|RP11-78A19.3_ENST00000586474.1_RNA|GNAL_ENST00000269162.5_Intron|GNAL_ENST00000334049.6_Intron	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B	140	Interaction with IST1.				cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|lung(1)|urinary_tract(1)	3						ATGAGCAGCACGACGACGCTCA	0.545		NA											False	0	True	18:11851926	0
ZNF271	0	broad.mit.edu	37	18	32887244	32887245	+	RNA	INS	-	-	G			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:32887244_32887245insG	ENST00000399070.3	+	0	1638_1639					NR_024565.1|NR_024566.1					NA										large_intestine(3)|lung(9)	12						ACTCTGGTGAAAAGCCTTATCA	0.381		NA											False	0	True	18:32887244	0
ZNF271	0	broad.mit.edu	37	18	32887246	32887247	+	RNA	INS	-	-	TAAGGTTG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:32887246_32887247insTAAGGTTG	ENST00000399070.3	+	0	1640_1641					NR_024565.1|NR_024566.1					NA										large_intestine(3)|lung(9)	12						TCTGGTGAAAAGCCTTATCATT	0.381		NA											False	0	True	18:32887246	0
DCC	1630	broad.mit.edu	37	18	50589756	50589757	+	Frame_Shift_Ins	INS	-	-	GATAGAAAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:50589756_50589757insGATAGAAAAT	ENST00000581580.1	+	3	297_298	c.32_33insGATAGAAAAT	c.(31-36)ggaaagfs	p.GK11fs	DCC_ENST00000412726.1_Frame_Shift_Ins_p.GK204fs|DCC_ENST00000442544.2_Frame_Shift_Ins_p.GK356fs|DCC_ENST00000580146.1_3'UTR			P43146	DCC_HUMAN	deleted in colorectal carcinoma	356					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACAGTCTCTGGAAAGCCTGTGC	0.361		NA											False	0	True	18:50589756	0
WDR7	23335	broad.mit.edu	37	18	54547375	54547376	+	Frame_Shift_Ins	INS	-	-	TAGAACAAATCAATATACAAAAAGACAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:54547375_54547376insTAGAACAAATCAATATACAAAAAGACAC	ENST00000254442.3	+	21	3716_3717	c.3505_3506insTAGAACAAATCAATATACAAAAAGACAC	c.(3505-3507)tacfs	p.Y1169fs	WDR7_ENST00000357574.3_Frame_Shift_Ins_p.Y1136fs|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1169										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGGATCCAACTACTCGCTGGCC	0.396		NA											False	0	False	18:54547375	0
ATP2B4	493	broad.mit.edu	37	1	203690411	203690412	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:203690411_203690412insAG	ENST00000357681.5	+	17	3808_3809	c.2685_2686insAG	c.(2686-2688)acgfs	p.T896fs	ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T884fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T896fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T896fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T896fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	896					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGAGCCCCCTACGGAATCTCT	0.515		NA											False	0	False	1:203690411	0
ATP2B4	493	broad.mit.edu	37	1	203690413	203690414	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:203690413_203690414insTT	ENST00000357681.5	+	17	3810_3811	c.2687_2688insTT	c.(2686-2691)acggaafs	p.E897fs	ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.E885fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.E897fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.E897fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.E897fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	897					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGCCCCCTACGGAATCTCTGT	0.515		NA											False	0	False	1:203690413	0
SERPINB7	8710	broad.mit.edu	37	18	61465967	61465968	+	In_Frame_Ins	INS	-	-	GAAAAAAAAATTGAGGGA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:61465967_61465968insGAAAAAAAAATTGAGGGA	ENST00000398019.2	+	6	909_910	c.584_585insGAAAAAAAAATTGAGGGA	c.(583-588)ttcaaa>ttGAAAAAAAAATTGAGGGAcaaa	p.195_195F>LKKKLRD	SERPINB7_ENST00000336429.2_In_Frame_Ins_p.195_195F>LKKKLRD|SERPINB7_ENST00000546027.1_In_Frame_Ins_p.195_195F>LKKKLRD|SERPINB7_ENST00000540675.1_In_Frame_Ins_p.178_178F>LKKKLRD	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	195					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AATTGCCATTTCAAATCTCCCA	0.411		NA											False	0	True	18:61465967	0
RTTN	25914	broad.mit.edu	37	18	67684837	67684838	+	Frame_Shift_Ins	INS	-	-	TTTTATAAATAATTTTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:67684837_67684838insTTTTATAAATAATTTTC	ENST00000255674.6	-	46	6512_6513	c.6226_6227insGAAAATTATTTATAAAA	c.(6226-6228)attfs	p.I2076fs	RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2076							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CAACCAAAGAATAGTCAGATTA	0.366		NA											False	0	False	18:67684837	0
REXO1	57455	broad.mit.edu	37	19	1825928	1825930	+	In_Frame_Del	DEL	CTC	CTC	-	rs3217458		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:1825928_1825930delCTC	ENST00000170168.4	-	3	2018_2020	c.1924_1926delGAG	c.(1924-1926)gagdel	p.E642del		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	642						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCACTCTTCTCTTCCTTGGGG	0.606		NA											False	1	True	19:1825928	0
CACTIN	58509	broad.mit.edu	37	19	3612289	3612290	+	In_Frame_Ins	INS	-	-	CCTGGA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:3612289_3612290insCCTGGA	ENST00000429344.2	-	10	1960_1961	c.1908_1909insTCCAGG	c.(1906-1911)gacaag>gacTCCAGGaag	p.636_637DK>DSRK	CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000248420.5_In_Frame_Ins_p.636_637DK>DSRK|CACTIN_ENST00000221899.3_In_Frame_Ins_p.568_569DK>DSRK	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit	NA											NA						GGCCGGTACTTGTCGGCCCACA	0.629		NA											False	0	False	19:3612289	0
MUC16	94025	broad.mit.edu	37	19	8994466	8994467	+	Frame_Shift_Ins	INS	-	-	CCCTGATT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:8994466_8994467insCCCTGATT	ENST00000397910.4	-	64	41628_41629	c.41425_41426insAATCAGGG	c.(41425-41427)tggfs	p.W13809fs	MUC16_ENST00000380951.5_Frame_Shift_Ins_p.W450fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13812	SEA 12.			Missing (in Ref. 3; AAK74120).	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						GGAGCCAGGCCACATGTTCTCC	0.54		NA											False	0	False	19:8994466	0
MUC16	94025	broad.mit.edu	37	19	9046560	9046561	+	Frame_Shift_Ins	INS	-	-	TTCACAGATCA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:9046560_9046561insTTCACAGATCA	ENST00000397910.4	-	5	35273_35274	c.35070_35071insTGATCTGTGAA	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	9091031	9091032	+	Frame_Shift_Ins	INS	-	-	CTTTTTCCATGACACTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:9091031_9091032insCTTTTTCCATGACACTA	ENST00000397910.4	-	1	986_987	c.783_784insTAGTGTCATGGAAAAAG	c.(781-786)actggafs	p.G262fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	262	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGGATATCCAGTGGTTGATA	0.45		NA											False	0	False	19:9091031	0
MUC16	94025	broad.mit.edu	37	19	9091033	9091034	+	In_Frame_Ins	INS	-	-	CAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:9091033_9091034insCAA	ENST00000397910.4	-	1	984_985	c.781_782insTTG	c.(781-783)act>aTTGct	p.261_261T>IA		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	261	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGATATCCAGTGGTTGATAGA	0.46		NA											False	0	False	19:9091033	0
ZNF763	284390	broad.mit.edu	37	19	12089428	12089429	+	In_Frame_Ins	INS	-	-	GGAAATAAAGGTTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:12089428_12089429insGGAAATAAAGGTTTT	ENST00000358987.3	+	4	816_817	c.689_690insGGAAATAAAGGTTTT	c.(688-693)tgtaaa>tgGGAAATAAAGGTTTTtaaa	p.230_230C>WEIKVF	ZNF763_ENST00000343949.5_In_Frame_Ins_p.233_233C>WEIKVF|ZNF763_ENST00000590798.1_In_Frame_Ins_p.250_250C>WEIKVF|ZNF763_ENST00000538752.1_In_Frame_Ins_p.250_250C>WEIKVF|ZNF763_ENST00000545530.1_In_Frame_Ins_p.108_108C>WEIKVF					zinc finger protein 763	NA										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						CCGTATGAATGTAAACAATGTG	0.371		NA											False	0	True	19:12089428	0
MUC16	94025	broad.mit.edu	37	19	9070917	9070918	+	Frame_Shift_Ins	INS	-	-	CAACC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:9070917_9070918insCAACC	ENST00000397910.4	-	3	16731_16732	c.16528_16529insGGTTG	c.(16528-16530)tatfs	p.Y5510fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5512	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						TGTGGGCACATAAGAAAAGGCA	0.5		NA											False	0	False	19:9070917	0
ZNF221	7638	broad.mit.edu	37	19	44471413	44471414	+	Frame_Shift_Ins	INS	-	-	TCTCTGATGTTTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:44471413_44471414insTCTCTGATGTTTC	ENST00000251269.5	+	6	2087_2088	c.1759_1760insTCTCTGATGTTTC	c.(1759-1761)gaafs	p.E587fs	ZNF221_ENST00000592350.1_Frame_Shift_Ins_p.E587fs|ZNF221_ENST00000587682.1_Frame_Shift_Ins_p.E587fs	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	587					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CCACAGTGGAGAAAAGCCATTG	0.441		NA											False	0	True	19:44471413	0
ASH1L	55870	broad.mit.edu	37	1	155447927	155447928	+	In_Frame_Ins	INS	-	-	GACACT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	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
C4BPB	725	broad.mit.edu	37	1	207265131	207265132	+	Frame_Shift_Ins	INS	-	-	TGAAGAAGAAAATA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:207265131_207265132insTGAAGAAGAAAATA	ENST00000243611.5	+	3	669_670	c.375_376insTGAAGAAGAAAATA	c.(376-378)accfs	p.T126fs	C4BPB_ENST00000451804.2_Frame_Shift_Ins_p.T116fs|C4BPB_ENST00000391923.1_Frame_Shift_Ins_p.T126fs|C4BPB_ENST00000367078.3_Frame_Shift_Ins_p.T126fs|C4BPB_ENST00000367076.3_Frame_Shift_Ins_p.T125fs	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	126	Sushi 2.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						TAGAGGACCACACCTGGGCACC	0.45		NA											False	0	False	1:207265131	0
CAMK1G	57172	broad.mit.edu	37	1	209779732	209779733	+	Frame_Shift_Ins	INS	-	-	TTGTAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:209779732_209779733insTTGTAAA	ENST00000009105.1	+	6	748_749	c.503_504insTTGTAAA	c.(502-507)tccaagfs	p.K169fs	CAMK1G_ENST00000361322.2_Frame_Shift_Ins_p.K169fs			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	169	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TTTGGTCTGTCCAAGATGGAAC	0.475		NA											False	0	False	1:209779732	0
ZNF578	147660	broad.mit.edu	37	19	53014946	53014947	+	Frame_Shift_Ins	INS	-	-	CAGTATGAAGTCTACG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:53014946_53014947insCAGTATGAAGTCTACG	ENST00000421239.2	+	6	1556_1557	c.1312_1313insCAGTATGAAGTCTACG	c.(1312-1314)catfs	p.H438fs	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H438Y(1)			NA				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GGCTTTTATTCATCAGTCAAGC	0.386		NA											False	0	False	19:53014946	0
ZNF548	147694	broad.mit.edu	37	19	57910346	57910347	+	In_Frame_Ins	INS	-	-	TCCCTGTAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:57910346_57910347insTCCCTGTAT	ENST00000366197.5	+	3	941_942	c.691_692insTCCCTGTAT	c.(691-693)ggg>gTCCCTGTATgg	p.231_231G>VPVW	AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_In_Frame_Ins_p.243_243G>VPVW|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAACAAATGTGGGAAATTCTTT	0.381		NA											False	0	True	19:57910346	0
VN1R1	57191	broad.mit.edu	37	19	57967487	57967488	+	Frame_Shift_Ins	INS	-	-	TTATGGAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:57967487_57967488insTTATGGAT	ENST00000321039.3	-	1	366_367	c.367_368insATCCATAA	c.(367-369)tttfs	p.F123fs	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	123					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		ATAAAAGACAAACTTACATCCA	0.441		NA											False	0	True	19:57967487	0
NOP56	10528	broad.mit.edu	37	20	2636100	2636105	+	In_Frame_Del	DEL	GCTGAC	GCTGAC	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	GCTGAC	GCTGAC	-	-	GCTGAC	GCTGAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:2636100_2636105delGCTGAC	ENST00000329276.5	+	6	1215_1220	c.699_704delGCTGAC	c.(697-705)gagctgaca>gaa	p.LT234del		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	234					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AGCTGGAGGAGCTGACAATGGATGGG	0.519		NA											False	1	False	20:2636100	0
ATRN	8455	broad.mit.edu	37	20	3543080	3543081	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:3543080_3543081insTA	ENST00000262919.5	+	9	1673_1674	c.1605_1606insTA	c.(1606-1608)cgafs	p.R536fs	ATRN_ENST00000446916.2_Frame_Shift_Ins_p.R536fs	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	536					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ATGATCTCTACCGATATGATGT	0.446		NA											False	0	False	20:3543080	0
ATRN	8455	broad.mit.edu	37	20	3543081	3543082	+	Frame_Shift_Ins	INS	-	-	TGAAAATGTCCAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:3543081_3543082insTGAAAATGTCCAAA	ENST00000262919.5	+	9	1674_1675	c.1606_1607insTGAAAATGTCCAAA	c.(1606-1608)cgafs	p.R536fs	ATRN_ENST00000446916.2_Frame_Shift_Ins_p.R536fs	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	536					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TGATCTCTACCGATATGATGTG	0.441		NA											False	0	False	20:3543081	0
LRRN4	164312	broad.mit.edu	37	20	6031626	6031627	+	Frame_Shift_Ins	INS	-	-	GATTTTTG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:6031626_6031627insGATTTTTG	ENST00000378858.4	-	3	882_883	c.658_659insCAAAAATC	c.(658-660)gagfs	p.E220fs		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	220						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCACCCTGACTCAACTGAAACA	0.554		NA											False	0	False	20:6031626	0
PAK7	57144	broad.mit.edu	37	20	9560880	9560881	+	Frame_Shift_Ins	INS	-	-	TTTGCCTTTTAAGGGAAAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:9560880_9560881insTTTGCCTTTTAAGGGAAAAT	ENST00000378429.3	-	5	1447_1448	c.901_902insATTTTCCCTTAAAAGGCAAA	c.(901-903)gcafs	p.A301fs	PAK7_ENST00000353224.5_Frame_Shift_Ins_p.A301fs|PAK7_ENST00000378423.1_Frame_Shift_Ins_p.A301fs	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	301	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AAATGCACTTGCTCCAAATGGC	0.54		NA											False	0	False	20:9560880	0
PAK7	57144	broad.mit.edu	37	20	9561464	9561465	+	Frame_Shift_Ins	INS	-	-	AAGCCTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:9561464_9561465insAAGCCTTT	ENST00000378429.3	-	5	863_864	c.317_318insAAAGGCTT	c.(316-318)cccfs	p.-106fs	PAK7_ENST00000353224.5_Frame_Shift_Ins_p.-106fs|PAK7_ENST00000378423.1_Frame_Shift_Ins_p.-106fs	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	NA							ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GATCTGGGGTGGGTGGGCTTTC	0.545		NA											False	0	True	20:9561464	0
NAA20	51126	broad.mit.edu	37	20	20007556	20007557	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:20007556_20007557insA	ENST00000310450.4	+	4	385_386	c.298_299insA	c.(298-300)tcafs	p.S100fs	NAA20_ENST00000398602.2_Frame_Shift_Ins_p.S88fs|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Frame_Shift_Ins_p.S100fs	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-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:20007557_20007558insACATAAATAT	ENST00000310450.4	+	4	386_387	c.299_300insACATAAATAT	c.(298-303)tcagaafs	p.E101fs	NAA20_ENST00000398602.2_Frame_Shift_Ins_p.E89fs|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Frame_Shift_Ins_p.E101fs	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
EDEM2	55741	broad.mit.edu	37	20	33703415	33703416	+	Frame_Shift_Ins	INS	-	-	CACTGGAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:33703415_33703416insCACTGGAT	ENST00000374492.3	-	11	1662_1663	c.1557_1558insATCCAGTG	c.(1555-1560)actgttfs	p.V520fs	EDEM2_ENST00000374491.2_Frame_Shift_Ins_p.V483fs|EDEM2_ENST00000542871.1_Frame_Shift_Ins_p.V244fs|EDEM2_ENST00000541621.1_Frame_Shift_Ins_p.V299fs	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	520					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCCGAACTAACAGTGTTTTTCT	0.525		NA											False	0	False	20:33703415	0
RBL1	5933	broad.mit.edu	37	20	35663905	35663906	+	Frame_Shift_Ins	INS	-	-	TTTCTAAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:35663905_35663906insTTTCTAAC	ENST00000373664.3	-	15	1975_1976	c.1909_1910insGTTAGAAA	c.(1909-1911)caafs	p.Q637fs	RBL1_ENST00000344359.3_Frame_Shift_Ins_p.Q637fs	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	637	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AGACAATGGTTGCATATCtaaa	0.361		NA											False	0	False	20:35663905	0
PTPRT	11122	broad.mit.edu	37	20	40827957	40827962	+	In_Frame_Del	DEL	TCGGCA	TCGGCA	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TCGGCA	TCGGCA	-	-	TCGGCA	TCGGCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:40827957_40827962delTCGGCA	ENST00000373198.3	-	17	2710_2715	c.2475_2480delTGCCGA	c.(2473-2481)tctgccgac>tcc	p.AD826del	PTPRT_ENST00000373190.1_In_Frame_Del_p.AD804del|PTPRT_ENST00000373201.1_In_Frame_Del_p.AD794del|PTPRT_ENST00000373187.1_In_Frame_Del_p.AD804del|PTPRT_ENST00000356100.2_In_Frame_Del_p.AD813del|PTPRT_ENST00000373193.3_In_Frame_Del_p.AD807del|PTPRT_ENST00000373184.1_In_Frame_Del_p.AD794del	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	804					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGTGGGTTTGTCGGCAGAGGCCACAG	0.553		NA											False	1	False	20:40827957	0
PTPRT	11122	broad.mit.edu	37	20	40944568	40944569	+	Frame_Shift_Ins	INS	-	-	TACAGCATCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:40944568_40944569insTACAGCATCT	ENST00000373198.3	-	12	2168_2169	c.1933_1934insAGATGCTGTA	c.(1933-1935)tgcfs	p.C645fs	PTPRT_ENST00000373190.1_Frame_Shift_Ins_p.C645fs|PTPRT_ENST00000373201.1_Frame_Shift_Ins_p.C645fs|PTPRT_ENST00000373187.1_Frame_Shift_Ins_p.C645fs|PTPRT_ENST00000356100.2_Frame_Shift_Ins_p.C645fs|PTPRT_ENST00000373193.3_Frame_Shift_Ins_p.C645fs|PTPRT_ENST00000373184.1_Frame_Shift_Ins_p.C645fs	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	645	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACCGAAAAGCACTCAATAATG	0.53		NA											False	0	False	20:40944568	0
SERINC3	10955	broad.mit.edu	37	20	43135628	43135629	+	Frame_Shift_Ins	INS	-	-	GTTTTTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:43135628_43135629insGTTTTTA	ENST00000342374.4	-	6	779_780	c.622_623insTAAAAAC	c.(622-624)tctfs	p.S208fs	SERINC3_ENST00000541235.1_Frame_Shift_Ins_p.S153fs|SERINC3_ENST00000255175.1_Frame_Shift_Ins_p.S208fs	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	208						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GCTTGTGAAAGACAGTAAAGCT	0.381		NA											False	0	False	20:43135628	0
SYCP2	10388	broad.mit.edu	37	20	58449064	58449065	+	Frame_Shift_Ins	INS	-	-	TCTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:58449064_58449065insTCTC	ENST00000357552.3	-	35	3626_3627	c.3401_3402insGAGA	c.(3400-3402)acafs	p.-1134fs	SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.-1134fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	NA					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
SLCO4A1	28231	broad.mit.edu	37	20	61297929	61297931	+	Splice_Site	DEL	TGA	TGA	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TGA	TGA	-	-	TGA	TGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:61297929_61297931delTGA	ENST00000370507.1	+	6	1568		c.e6+2		SLCO4A1_ENST00000217159.1_Splice_Site|RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA|RP11-93B14.5_ENST00000451648.1_RNA|SLCO4A1_ENST00000470412.1_Splice_Site			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	NA					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CGGCGGGAGGTGAGGGCCAGATG	0.655		NA											False	1	False	20:61297929	0
MIS18A	54069	broad.mit.edu	37	21	33641405	33641406	+	Frame_Shift_Ins	INS	-	-	TAAATGAAGCAACATAGTG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr21:33641405_33641406insTAAATGAAGCAACATAGTG	ENST00000290130.3	-	5	698_699	c.644_645insCACTATGTTGCTTCATTTA	c.(643-645)ttafs	p.-214fs		NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	NA					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						GCTTCATTTGTAATGCTTTCAA	0.351		NA											False	0	False	21:33641405	0
KCNE1	3753	broad.mit.edu	37	21	35821678	35821679	+	In_Frame_Ins	INS	-	-	ACCTGATTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr21:35821678_35821679insACCTGATTT	ENST00000337385.3	-	3	629_630	c.254_255insAAATCAGGT	c.(253-255)gat>gaAAATCAGGTt	p.85_85D>ENQV	KCNE1_ENST00000399286.2_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000399289.3_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000432085.1_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000399284.1_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000416357.2_In_Frame_Ins_p.85_85D>ENQV	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	85			D -> N (predisposes to acquired LQT5 susceptibility; shows a significant difference in current density and midpoint potential between the mutant and the wildt-ype channels; dbSNP:rs1805128).		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
PEX26	55670	broad.mit.edu	37	22	18566374	18566375	+	Frame_Shift_Ins	INS	-	-	CTCAATGATT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr22:18566374_18566375insCTCAATGATT	ENST00000428061.2	+	3	543_544	c.543_544insCTCAATGATT	c.(544-546)gtgfs	p.V182fs	PEX26_ENST00000329627.6_Frame_Shift_Ins_p.V182fs|PEX26_ENST00000399744.3_Frame_Shift_Ins_p.V182fs	NM_001199319.1	NP_001186248.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	182					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AGGAGCTAGTGGTGGGCTCTGC	0.569		NA											False	0	False	22:18566374	0
SUSD4	55061	broad.mit.edu	37	1	223408416	223408417	+	Frame_Shift_Ins	INS	-	-	GTTTGAATTAAACATTCCATTTTTATCCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:223408416_223408417insGTTTGAATTAAACATTCCATTTTTATCCT	ENST00000344029.6	-	6	895_896	c.750_751insAGGATAAAAATGGAATGTTTAATTCAAAC	c.(748-753)cctgtcfs	p.V251fs	SUSD4_ENST00000366878.4_Intron|SUSD4_ENST00000343846.3_Intron|SUSD4_ENST00000454695.2_Intron|SUSD4_ENST00000478605.1_Intron	NM_001037175.2	NP_001032252.1	Q5VX71	SUSD4_HUMAN	sushi domain containing 4	0	Sushi 4.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AAATAAAGGACAGGGAAAAGAT	0.406		NA											False	0	True	1:223408416	0
H3F3A	3020	broad.mit.edu	37	1	226252133	226252134	+	Frame_Shift_Ins	INS	-	-	CAAATCTGGAAATTATGATCAGTATAAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:226252133_226252134insCAAATCTGGAAATTATGATCAGTATAAAA	ENST00000366814.3	+	2	202_203	c.81_82insCAAATCTGGAAATTATGATCAGTATAAAA	c.(82-84)aagfs	p.-27fs	H3F3A_ENST00000366813.1_Frame_Shift_Ins_p.-27fs|H3F3A_ENST00000366816.1_Frame_Shift_Ins_p.-27fs|H3F3A_ENST00000366815.3_Frame_Shift_Ins_p.-27fs					H3 histone, family 3A	NA										central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		AAGCCGCTCGCAAGAGTGCGCC	0.485		NA	Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:226252133	0
ZNF678	339500	broad.mit.edu	37	1	227842194	227842195	+	In_Frame_Ins	INS	-	-	ATAAAAATAAAAAGTTATTCTTCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:227842194_227842195insATAAAAATAAAAAGTTATTCTTCT	ENST00000343776.4	+	4	588_589	c.243_244insATAAAAATAAAAAGTTATTCTTCT	c.(244-246)tat>ATAAAAATAAAAAGTTATTCTTCTtat	p.81_82insIKIKSYSS	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_In_Frame_Ins_p.136_137insIKIKSYSS			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	136					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GGCAGAAAGAATATTGCAATAG	0.386		NA											False	0	True	1:227842194	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31845480	31845481	+	Frame_Shift_Ins	INS	-	-	TAAATATACTTATTTGTCAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr22:31845480_31845481insTAAATATACTTATTTGTCAA	ENST00000344710.5	-	10	1253_1254	c.1096_1097insTTGACAAATAAGTATATTTA	c.(1096-1098)tccfs	p.S366fs	EIF4ENIF1_ENST00000397523.1_Frame_Shift_Ins_p.S517fs|EIF4ENIF1_ENST00000382180.2_Frame_Shift_Ins_p.S196fs|EIF4ENIF1_ENST00000330125.5_Frame_Shift_Ins_p.S541fs|EIF4ENIF1_ENST00000397525.1_Frame_Shift_Ins_p.S541fs	NM_001164502.1	NP_001157974.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	541						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGAAGATTGGAAGAAGCAGGT	0.475		NA											False	0	False	22:31845480	0
TCF20	6942	broad.mit.edu	37	22	42608966	42608967	+	Frame_Shift_Ins	INS	-	-	CTGAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr22:42608966_42608967insCTGAA	ENST00000359486.3	-	1	2481_2482	c.2345_2346insTTCAG	c.(2344-2346)ctafs	p.-782fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.-782fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TGGTTCCTTCTAGGCTACCAGC	0.495		NA											False	0	False	22:42608966	0
TCF20	6942	broad.mit.edu	37	22	42608968	42608969	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr22:42608968_42608969insAA	ENST00000359486.3	-	1	2479_2480	c.2343_2344insTT	c.(2341-2346)agcctafs	p.L782fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.L782fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	782					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTTCCTTCTAGGCTACCAGCCA	0.485		NA											False	0	False	22:42608968	0
SLC38A5	92745	broad.mit.edu	37	X	48320638	48320639	+	Frame_Shift_Ins	INS	-	-	GCTG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:48320638_48320639insGCTG	ENST00000376876.3	-	9	1456_1457	c.613_614insCAGC	c.(613-615)atgfs	p.M205fs	SLC38A5_ENST00000317669.5_Frame_Shift_Ins_p.M205fs|SLC38A5_ENST00000376875.1_Frame_Shift_Ins_p.M154fs			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	205					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GAAAAACAGCATGCAGGTCAGA	0.54		NA											False	0	False	X:48320638	0
KLHL4	0	broad.mit.edu	37	X	86880784	86880785	+	Frame_Shift_Ins	INS	-	-	TATATGA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:86880784_86880785insTATATGA	ENST00000373119.4	+	6	1457_1458	c.1312_1313insTATATGA	c.(1312-1314)gatfs	p.D438fs	KLHL4_ENST00000373114.4_Frame_Shift_Ins_p.D438fs	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	438						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGGAGGCATGGATGCTATGAAA	0.381		NA											False	0	False	X:86880784	0
DRP2	1821	broad.mit.edu	37	X	100503213	100503214	+	Frame_Shift_Ins	INS	-	-	AGAAGAGAAAAAAAATATAGCCAAAAGTAGAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:100503213_100503214insAGAAGAGAAAAAAAATATAGCCAAAAGTAGAA	ENST00000395209.3	+	13	1915_1916	c.1388_1389insAGAAGAGAAAAAAAATATAGCCAAAAGTAGAA	c.(1387-1392)ggcatcfs	p.I464fs	DRP2_ENST00000538510.1_Frame_Shift_Ins_p.I464fs|DRP2_ENST00000402866.1_Frame_Shift_Ins_p.I464fs|DRP2_ENST00000541709.1_Frame_Shift_Ins_p.I386fs	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	464					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GAGGAAAGAGGCATCCTGGTCA	0.495		NA											False	0	False	X:100503213	0
ESX1	80712	broad.mit.edu	37	X	103498998	103499033	+	In_Frame_Del	DEL	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	-	rs141891783		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	-	-	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:103498998_103499033delGGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	ENST00000372588.4	-	2	391_426	c.308_343delTGCTCGAGCTGAAGCAAGAGCAGGAGGAGCCGCCCC	c.(307-345)ctgctcgagctgaagcaagagcaggaggagccgccccag>cag	p.LLELKQEQEEPP103del		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	103					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						ACGGTCGTCTGGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCAGGGGCGGCTC	0.712		NA											False	1	False	X:103498998	0
GRIA3	2892	broad.mit.edu	37	X	122538758	122538759	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:122538758_122538759insA	ENST00000371256.5	+	10	1545_1546	c.1493_1494insA	c.(1492-1497)gtctatfs	p.Y499fs	GRIA3_ENST00000264357.5_Frame_Shift_Ins_p.Y499fs|GRIA3_ENST00000542149.1_Frame_Shift_Ins_p.Y499fs|GRIA3_ENST00000371251.1_Frame_Shift_Ins_p.Y499fs|GRIA3_ENST00000541091.1_Frame_Shift_Ins_p.Y483fs	NM_007325.4	NP_015564.4	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	499					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GGGGAACTTGTCTATGGGGTGA	0.376		NA											False	0	False	X:122538758	0
GRIA3	2892	broad.mit.edu	37	X	122538759	122538760	+	In_Frame_Ins	INS	-	-	ATTACA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:122538759_122538760insATTACA	ENST00000371256.5	+	10	1546_1547	c.1494_1495insATTACA	c.(1495-1497)tat>ATTACAtat	p.498_499insIT	GRIA3_ENST00000264357.5_In_Frame_Ins_p.498_499insIT|GRIA3_ENST00000542149.1_In_Frame_Ins_p.498_499insIT|GRIA3_ENST00000371251.1_In_Frame_Ins_p.498_499insIT|GRIA3_ENST00000541091.1_In_Frame_Ins_p.482_483insIT	NM_007325.4	NP_015564.4	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	498					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GGGAACTTGTCTATGGGGTGAG	0.371		NA											False	0	False	X:122538759	0
RYR2	6262	broad.mit.edu	37	1	237789076	237789077	+	Frame_Shift_Ins	INS	-	-	AATATTTAAAGAATACACTTGGGCAAATAATTCTGAGGCCTTGTAATTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:237789076_237789077insAATATTTAAAGAATACACTTGGGCAAATAATTCTGAGGCCTTGTAATTT	ENST00000366574.2	+	40	6455_6456	c.6138_6139insAATATTTAAAGAATACACTTGGGCAAATAATTCTGAGGCCTTGTAATTT	c.(6139-6141)ccafs	p.P2047fs	RYR2_ENST00000360064.6_Frame_Shift_Ins_p.P2045fs|RYR2_ENST00000542537.1_Frame_Shift_Ins_p.P2031fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2047	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGCAGAAAAACCAGTTGAGAG	0.431		NA											False	0	True	1:237789076	0
OPN3	23596	broad.mit.edu	37	1	241761207	241761208	+	In_Frame_Ins	INS	-	-	CTTTGC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:241761207_241761208insCTTTGC	ENST00000366554.2	-	3	891_892	c.785_786insGCAAAG	c.(784-786)ttc>ttGCAAAGc	p.262_262F>LQS	OPN3_ENST00000331838.5_In_Frame_Ins_p.183_183F>LQS|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	262					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCAGGAAGGTGAATATCATTAA	0.386		NA											False	0	False	1:241761207	0
WDR64	128025	broad.mit.edu	37	1	241913019	241913020	+	Frame_Shift_Ins	INS	-	-	CTTAGAGAAAGCTTGGCTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:241913019_241913020insCTTAGAGAAAGCTTGGCTT	ENST00000366552.2	+	13	1942_1943	c.1735_1736insCTTAGAGAAAGCTTGGCTT	c.(1735-1737)atcfs	p.I579fs	WDR64_ENST00000437684.2_Frame_Shift_Ins_p.I579fs	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	579										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TATCAAAATGATCCAGGTTTAC	0.51		NA											False	0	False	1:241913019	0
TRIM58	25893	broad.mit.edu	37	1	248039551	248039552	+	Frame_Shift_Ins	INS	-	-	CCCAGTAATG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:248039551_248039552insCCCAGTAATG	ENST00000366481.3	+	6	1269_1270	c.1221_1222insCCCAGTAATG	c.(1222-1224)cctfs	p.-408fs	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	NA						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACTGGAAAGTCCTCGCTGCAT	0.485		NA											False	0	False	1:248039551	0
OR2W3	343171	broad.mit.edu	37	1	248059353	248059355	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:248059353_248059355delCTC	ENST00000360358.3	+	1	465_467	c.465_467delCTC	c.(463-468)aactcc>aac	p.S156del	OR2W3_ENST00000537741.1_In_Frame_Del_p.S156del	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S156F(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGGTGGCCAACTCCTTGGCCATG	0.64		NA											False	1	False	1:248059353	0
GEN1	348654	broad.mit.edu	37	2	17941373	17941374	+	Splice_Site	INS	-	-	GATTATCTGCTGTTATGTGAAACACACTTTACAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:17941373_17941374insGATTATCTGCTGTTATGTGAAACACACTTTACAAA	ENST00000381254.2	+	2	375		c.e2+2		GEN1_ENST00000317402.7_Splice_Site|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	NA					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCACCTCAGGTATAGTAAAAGC	0.376		NA						Homologous recombination					False	0	False	2:17941373	0
ITSN2	50618	broad.mit.edu	37	2	24533465	24533466	+	Frame_Shift_Ins	INS	-	-	TACTTTGTTTCTAAAGAGTCATTATTTCATGTAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:24533465_24533466insTACTTTGTTTCTAAAGAGTCATTATTTCATGTAAA	ENST00000355123.4	-	6	891_892	c.448_449insTTTACATGAAATAATGACTCTTTAGAAACAAAGTA	c.(448-450)cctfs	p.P150fs	ITSN2_ENST00000406921.3_Frame_Shift_Ins_p.P150fs|ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.P150fs	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	150					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTAAGGGAGGAAGGTTGGTC	0.48		NA											False	0	False	2:24533465	0
SNX17	9784	broad.mit.edu	37	2	27598008	27598009	+	Frame_Shift_Ins	INS	-	-	CTTGATCTTGTCAGCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:27598008_27598009insCTTGATCTTGTCAGCT	ENST00000233575.2	+	9	984_985	c.762_763insCTTGATCTTGTCAGCT	c.(763-765)tccfs	p.S255fs	SNX17_ENST00000543024.1_Frame_Shift_Ins_p.S41fs|SNX17_ENST00000542478.1_Frame_Shift_Ins_p.S41fs|SNX17_ENST00000537606.1_Frame_Shift_Ins_p.S230fs	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	255					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAGAAAGTCTCCAAGAAGGA	0.535		NA											False	0	False	2:27598008	0
PPM1B	5495	broad.mit.edu	37	2	44428513	44428514	+	Frame_Shift_Ins	INS	-	-	TGGGTTTATCCAAAAATGCACCC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:44428513_44428514insTGGGTTTATCCAAAAATGCACCC	ENST00000378551.2	+	2	587_588	c.175_176insTGGGTTTATCCAAAAATGCACCC	c.(175-177)tatfs	p.Y59fs	PPM1B_ENST00000409895.4_Frame_Shift_Ins_p.Y59fs|PPM1B_ENST00000409432.3_Frame_Shift_Ins_p.Y59fs|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000282412.4_Frame_Shift_Ins_p.Y59fs	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	59					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTTTGCAGTTTATGATGGTCAT	0.45		NA											False	0	True	2:44428513	0
AFTPH	54812	broad.mit.edu	37	2	64780441	64780442	+	Frame_Shift_Ins	INS	-	-	GTCCAATCTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:64780441_64780442insGTCCAATCTC	ENST00000238856.4	+	2	2147_2148	c.1833_1834insGTCCAATCTC	c.(1834-1836)attfs	p.I612fs	AFTPH_ENST00000238855.7_Frame_Shift_Ins_p.I612fs|AFTPH_ENST00000409933.1_Frame_Shift_Ins_p.I612fs|AFTPH_ENST00000422803.1_Frame_Shift_Ins_p.I612fs|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409183.1_Frame_Shift_Ins_p.I243fs	NM_001002243.2|NM_017657.4	NP_001002243.1|NP_060127.3	Q6ULP2	AFTIN_HUMAN	aftiphilin	612					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CAGATGAAAATATTGATACTCC	0.455		NA											False	0	False	2:64780441	0
PTCD3	55037	broad.mit.edu	37	2	86364188	86364189	+	Frame_Shift_Ins	INS	-	-	ATCCAGTGTAAGTTCAGTAACAGAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:86364188_86364189insATCCAGTGTAAGTTCAGTAACAGAA	ENST00000254630.7	+	23	1970_1971	c.1904_1905insATCCAGTGTAAGTTCAGTAACAGAA	c.(1903-1908)agtgccfs	p.SA635fs		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	635						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GAGCTGGCAAGTGCCTTCAGCT	0.446		NA											False	0	False	2:86364188	0
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	NA										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314		NA											False	1	False	2:97847365	0
TTL	150465	broad.mit.edu	37	2	113260636	113260637	+	In_Frame_Ins	INS	-	-	TTTCTGCATATTATATAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	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
ZRANB3	84083	broad.mit.edu	37	2	136071173	136071174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:136071173_136071174insG	ENST00000401392.1	-	8	1063_1064	c.851_852insC	c.(850-852)gaafs	p.E284fs	ZRANB3_ENST00000536680.1_Frame_Shift_Ins_p.E284fs|ZRANB3_ENST00000264159.6_Frame_Shift_Ins_p.E284fs			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	284						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGGTATTCAATTCCTATGTGGG	0.342		NA											False	0	False	2:136071173	0
ZRANB3	84083	broad.mit.edu	37	2	136071175	136071176	+	Splice_Site	INS	-	-	TTTTACTGTTTTTAATTAAGCAAGTTATTTATATATTGCAGAATTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:136071175_136071176insTTTTACTGTTTTTAATTAAGCAAGTTATTTATATATTGCAGAATTT	ENST00000401392.1	-	8	1062	c.850_850insAAATTCTGCAATATATAAATAACTTGCTTAATTAAAAACAGTAAAA	c.(850-852)gaa>AAATTCTGCAATATATAAATAACTTGCTTAATTAAAAACAGTAAAAgaa	p.E284fs	ZRANB3_ENST00000536680.1_Splice_Site_p.E284fs|ZRANB3_ENST00000264159.6_Splice_Site_p.E284fs			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	284						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTATTCAATTCCTATGTGGGAA	0.342		NA											False	0	False	2:136071175	0
UBXN4	23190	broad.mit.edu	37	2	136540358	136540359	+	Frame_Shift_Ins	INS	-	-	CATTATATCTACTAACACA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:136540358_136540359insCATTATATCTACTAACACA	ENST00000272638.9	+	13	1739_1740	c.1428_1429insCATTATATCTACTAACACA	c.(1429-1431)gacfs	p.D477fs	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	477					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AACGTGGAGACGACTTTAAAAA	0.371		NA											False	0	False	2:136540358	0
UBXN4	23190	broad.mit.edu	37	2	136540359	136540360	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:136540359_136540360insT	ENST00000272638.9	+	13	1740_1741	c.1429_1430insT	c.(1429-1431)gacfs	p.D477fs	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	477					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						ACGTGGAGACGACTTTAAAAAG	0.371		NA											False	0	False	2:136540359	0
GTDC1	79712	broad.mit.edu	37	2	144899594	144899595	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:144899594_144899595insT	ENST00000409214.1	-	6	653_654	c.375_376insA	c.(373-378)aactcafs	p.S126fs	GTDC1_ENST00000409298.1_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000344850.4_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000542155.1_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000392867.3_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000392869.1_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000241391.5_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000463875.2_5'UTR	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	126					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TTAAAAACTGAGTTGAATACAA	0.391		NA											False	0	False	2:144899594	0
GTDC1	79712	broad.mit.edu	37	2	144899595	144899596	+	Translation_Start_Site	INS	-	-	TTCTTCATGCCAGTTTTAACTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:144899595_144899596insTTCTTCATGCCAGTTTTAACTT	ENST00000463875.2	-	0	334_335				GTDC1_ENST00000409298.1_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000344850.4_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000542155.1_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000392867.3_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000392869.1_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000241391.5_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000409214.1_Frame_Shift_Ins_p.N125fs			Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	NA					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TAAAAACTGAGTTGAATACAAC	0.396		NA											False	0	False	2:144899595	0
NEB	4703	broad.mit.edu	37	2	152487757	152487758	+	Frame_Shift_Ins	INS	-	-	TATA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:152487757_152487758insTATA	ENST00000604864.1	-	64	9516_9517	c.9517_9518insTATA	c.(9517-9519)gatfs	p.D3173fs	NEB_ENST00000172853.10_Intron|NEB_ENST00000427231.2_Frame_Shift_Ins_p.D3173fs|NEB_ENST00000409198.1_Intron|NEB_ENST00000603639.1_Frame_Shift_Ins_p.D3173fs|NEB_ENST00000397345.3_Frame_Shift_Ins_p.D3173fs			P20929	NEBU_HUMAN	nebulin	3173					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTAGATGTTATCACTCAGTATT	0.48		NA											False	0	False	2:152487757	0
NEB	4703	broad.mit.edu	37	2	152487758	152487759	+	Frame_Shift_Ins	INS	-	-	TTTAATG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:152487758_152487759insTTTAATG	ENST00000604864.1	-	64	9515_9516	c.9516_9517insCATTAAA	c.(9514-9519)agtgatfs	p.D3173fs	NEB_ENST00000172853.10_Intron|NEB_ENST00000427231.2_Frame_Shift_Ins_p.D3173fs|NEB_ENST00000409198.1_Intron|NEB_ENST00000603639.1_Frame_Shift_Ins_p.D3173fs|NEB_ENST00000397345.3_Frame_Shift_Ins_p.D3173fs			P20929	NEBU_HUMAN	nebulin	3173					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAGATGTTATCACTCAGTATTT	0.475		NA											False	0	False	2:152487758	0
SPEN	23013	broad.mit.edu	37	1	16259132	16259133	+	Frame_Shift_Ins	INS	-	-	TTTTCTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:16259132_16259133insTTTTCTC	ENST00000375759.3	+	11	6601_6602	c.6397_6398insTTTTCTC	c.(6397-6399)ttafs	p.L2133fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2133	Interaction with MSX2 (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGGATGGTTTATCATCCCAG	0.564		NA											False	0	True	1:16259132	0
SPEN	23013	broad.mit.edu	37	1	16259134	16259135	+	Frame_Shift_Ins	INS	-	-	CAACT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:16259134_16259135insCAACT	ENST00000375759.3	+	11	6603_6604	c.6399_6400insCAACT	c.(6400-6402)tcafs	p.S2134fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2134	Interaction with MSX2 (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGGATGGTTTATCATCCCAGTT	0.559		NA											False	0	False	1:16259134	0
COBLL1	22837	broad.mit.edu	37	2	165600362	165600363	+	Frame_Shift_Ins	INS	-	-	AAATATCA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:165600362_165600363insAAATATCA	ENST00000375458.2	-	2	285_286	c.64_65insTGATATTT	c.(64-66)ccafs	p.P22fs	COBLL1_ENST00000409184.3_Frame_Shift_Ins_p.P60fs|COBLL1_ENST00000392717.2_Frame_Shift_Ins_p.P60fs|COBLL1_ENST00000342193.4_Frame_Shift_Ins_p.P22fs|COBLL1_ENST00000194871.6_Frame_Shift_Ins_p.P75fs|COBLL1_ENST00000491126.2_Intron	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	60										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGGAGGAAGTGGTGCCTTGGCT	0.307		NA											False	0	False	2:165600362	0
TTN	7273	broad.mit.edu	37	2	179516022	179516023	+	Frame_Shift_Ins	INS	-	-	TTTTTAGGGTCTGAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:179516022_179516023insTTTTTAGGGTCTGAAT	ENST00000589042.1	-	208	39796_39797	c.39572_39573insATTCAGACCCTAAAAA	c.(39571-39573)gttfs	p.-13191fs	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.-10757fs|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Frame_Shift_Ins_p.-11684fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	NA							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTTCTGGAACAACTTCTTT	0.371		NA											False	0	False	2:179516022	0
DUSP19	0	broad.mit.edu	37	2	183943878	183943879	+	In_Frame_Ins	INS	-	-	GCA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:183943878_183943879insGCA	ENST00000354221.4	+	1	392_393	c.217_218insGCA	c.(217-219)ttg>tGCAtg	p.73_73L>CM	DUSP19_ENST00000342619.6_In_Frame_Ins_p.73_73L>CM|DUSP19_ENST00000469344.1_3'UTR	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	73					JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						TAAGCCATGGTTGCTCCTAGGT	0.455		NA											False	0	False	2:183943878	0
DNAH7	56171	broad.mit.edu	37	2	196729645	196729646	+	In_Frame_Ins	INS	-	-	CCTTGTCTTGTTTCG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:196729645_196729646insCCTTGTCTTGTTTCG	ENST00000312428.6	-	41	6833_6834	c.6733_6734insCGAAACAAGACAAGG	c.(6733-6735)ttt>tCGAAACAAGACAAGGtt	p.2245_2245F>SKQDKV		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2245					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						AAGCTCATGAAAATCTTCATAC	0.401		NA											False	0	True	2:196729645	0
DNAH7	56171	broad.mit.edu	37	2	196737189	196737190	+	Frame_Shift_Ins	INS	-	-	TCCTGTTATTGAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:196737189_196737190insTCCTGTTATTGAA	ENST00000312428.6	-	40	6517_6518	c.6417_6418insTTCAATAACAGGA	c.(6415-6420)tataaafs	p.YK2139fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2139	AAA 3 (By similarity).				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						TCTGGaaatttataacttaaaa	0.282		NA											False	0	True	2:196737189	0
PLCL1	5334	broad.mit.edu	37	2	198953688	198953689	+	Frame_Shift_Ins	INS	-	-	CAGGTTTACAGAAAAGTACA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:198953688_198953689insCAGGTTTACAGAAAAGTACA	ENST00000428675.1	+	3	3220_3221	c.2822_2823insCAGGTTTACAGAAAAGTACA	c.(2821-2826)ccttcafs	p.S942fs	PLCL1_ENST00000437704.2_Frame_Shift_Ins_p.S844fs	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	942					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GACAATACTCCTTCAGTCTCAC	0.465		NA											False	0	False	2:198953688	0
SP140	11262	broad.mit.edu	37	2	231112711	231112712	+	In_Frame_Ins	INS	-	-	TCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:231112711_231112712insTCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT	ENST00000343805.6	+	7	845_846	c.745_746insTCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT	c.(745-747)agg>aTCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGTgg	p.249_249R>ISESVCNFHIISLD*W	SP140_ENST00000392045.3_In_Frame_Ins_p.275_275R>ISESVCNFHIISLD*W|SP140_ENST00000350136.5_Intron|SP140_ENST00000417495.3_Intron|SP140_ENST00000420434.3_In_Frame_Ins_p.275_275R>ISESVCNFHIISLD*W|SP140_ENST00000486687.2_Intron	NM_001278452.1	NP_001265381.1	Q13342	LY10_HUMAN	SP140 nuclear body protein	275					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGAGGAAGGCAGGAACAGTCCC	0.48		NA											False	0	False	2:231112711	0
UGT1A6	0	broad.mit.edu	37	2	234677033	234677034	+	In_Frame_Ins	INS	-	-	CAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:234677033_234677034insCAC	ENST00000305139.6	+	4	1388_1389	c.1249_1250insCAC	c.(1249-1251)atg>aCACtg	p.417_417M>TL	UGT1A4_ENST00000373409.3_In_Frame_Ins_p.419_419M>TL|UGT1A5_ENST00000373414.3_In_Frame_Ins_p.419_419M>TL|UGT1A1_ENST00000305208.5_In_Frame_Ins_p.418_418M>TL|UGT1A1_ENST00000360418.3_In_Frame_Ins_p.418_418M>TL|UGT1A3_ENST00000482026.1_In_Frame_Ins_p.419_419M>TL|UGT1A6_ENST00000406651.1_In_Frame_Ins_p.150_150M>TL|UGT1A6_ENST00000373424.1_In_Frame_Ins_p.150_150M>TL|UGT1A7_ENST00000373426.3_In_Frame_Ins_p.415_415M>TL|UGT1A10_ENST00000373445.1_In_Frame_Ins_p.415_415M>TL|UGT1A8_ENST00000373450.4_In_Frame_Ins_p.415_415M>TL|UGT1A9_ENST00000354728.4_In_Frame_Ins_p.415_415M>TL|UGT1A10_ENST00000344644.5_In_Frame_Ins_p.415_415M>TL	NM_001072.3	NP_001063.2				NA										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		TGTTCTGGAAATGACTTCTGAA	0.416		NA											False	0	True	2:234677033	0
UGT1A6	0	broad.mit.edu	37	2	234677034	234677035	+	Frame_Shift_Ins	INS	-	-	CCAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:234677034_234677035insCCAAA	ENST00000305139.6	+	4	1389_1390	c.1250_1251insCCAAA	c.(1249-1254)atgactfs	p.MT417fs	UGT1A4_ENST00000373409.3_Frame_Shift_Ins_p.MT419fs|UGT1A5_ENST00000373414.3_Frame_Shift_Ins_p.MT419fs|UGT1A1_ENST00000305208.5_Frame_Shift_Ins_p.MT418fs|UGT1A1_ENST00000360418.3_Frame_Shift_Ins_p.MT418fs|UGT1A3_ENST00000482026.1_Frame_Shift_Ins_p.MT419fs|UGT1A6_ENST00000406651.1_Frame_Shift_Ins_p.MT150fs|UGT1A6_ENST00000373424.1_Frame_Shift_Ins_p.MT150fs|UGT1A7_ENST00000373426.3_Frame_Shift_Ins_p.MT415fs|UGT1A10_ENST00000373445.1_Frame_Shift_Ins_p.MT415fs|UGT1A8_ENST00000373450.4_Frame_Shift_Ins_p.MT415fs|UGT1A9_ENST00000354728.4_Frame_Shift_Ins_p.MT415fs|UGT1A10_ENST00000344644.5_Frame_Shift_Ins_p.MT415fs	NM_001072.3	NP_001063.2				NA										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		GTTCTGGAAATGACTTCTGAAG	0.416		NA											False	0	False	2:234677034	0
LRRFIP1	9208	broad.mit.edu	37	2	238668816	238668817	+	Frame_Shift_Ins	INS	-	-	CTCTGTTTTAATACAATAATAAAAAAGAAAACCATTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:238668816_238668817insCTCTGTTTTAATACAATAATAAAAAAGAAAACCATTTT	ENST00000308482.9	+	19	1496_1497	c.1427_1428insCTCTGTTTTAATACAATAATAAAAAAGAAAACCATTTT	c.(1426-1431)aatgccfs	p.A477fs	LRRFIP1_ENST00000244815.5_Frame_Shift_Ins_p.A263fs|LRRFIP1_ENST00000392000.4_Frame_Shift_Ins_p.A287fs|LRRFIP1_ENST00000289175.6_Frame_Shift_Ins_p.A231fs	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	529					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GAAGAGTTAAATGCCCTCAAGT	0.46		NA											False	0	True	2:238668816	0
RAD18	56852	broad.mit.edu	37	3	8983479	8983480	+	Frame_Shift_Ins	INS	-	-	CCTCA	rs143654080		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:8983479_8983480insCCTCA	ENST00000264926.2	-	5	391_392	c.275_276insTGAGG	c.(274-276)ctgfs	p.-92fs	RAD18_ENST00000495087.1_5'UTR	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	NA					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CAAACTGCAGCAGATGATTCCT	0.381		NA						Rad6 pathway					False	0	False	3:8983479	0
SETD5	55209	broad.mit.edu	37	3	9483355	9483356	+	Frame_Shift_Ins	INS	-	-	AAATTACTTCATAATTAAGGAAAACATGCTAATATTTTCAGGTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:9483355_9483356insAAATTACTTCATAATTAAGGAAAACATGCTAATATTTTCAGGTT	ENST00000406341.1	+	8	1079_1080	c.889_890insAAATTACTTCATAATTAAGGAAAACATGCTAATATTTTCAGGTT	c.(889-891)cttfs	p.L297fs	SETD5_ENST00000407969.1_Frame_Shift_Ins_p.L316fs|SETD5_ENST00000302463.6_Frame_Shift_Ins_p.L199fs|SETD5_ENST00000402466.1_Frame_Shift_Ins_p.L199fs|SETD5_ENST00000402198.1_Frame_Shift_Ins_p.L297fs			Q9C0A6	SETD5_HUMAN	SET domain containing 5	297	SET.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TTTGGACACTCTTATAATAGAG	0.431		NA											False	0	False	3:9483355	0
SLC22A14	9389	broad.mit.edu	37	3	38349147	38349150	+	Frame_Shift_Del	DEL	TTTG	TTTG	-	rs78021456		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TTTG	TTTG	-	-	TTTG	TTTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:38349147_38349150delTTTG	ENST00000273173.4	+	3	802_805	c.711_714delTTTG	c.(709-714)tatttgfs	p.YL237fs	SLC22A14_ENST00000448498.1_Frame_Shift_Del_p.YL237fs	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	237						integral to plasma membrane	organic cation transmembrane transporter activity	p.L238fs*25(1)		central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TTCACCTGTATTTGTTCTTTCGCT	0.564		NA											False	1	True	3:38349147	0
ZBTB40	9923	broad.mit.edu	37	1	22828135	22828136	+	Frame_Shift_Ins	INS	-	-	CATC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:22828135_22828136insCATC	ENST00000375647.4	+	4	1189_1190	c.982_983insCATC	c.(982-984)ttafs	p.L328fs	ZBTB40_ENST00000404138.1_Frame_Shift_Ins_p.L328fs|ZBTB40_ENST00000374651.4_Intron	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	328					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AACAGCACTATTAGACAGGAAG	0.426		NA											False	0	False	1:22828135	0
ZBTB40	9923	broad.mit.edu	37	1	22828137	22828138	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:22828137_22828138insTG	ENST00000375647.4	+	4	1191_1192	c.984_985insTG	c.(985-987)gacfs	p.D329fs	ZBTB40_ENST00000404138.1_Frame_Shift_Ins_p.D329fs|ZBTB40_ENST00000374651.4_Intron	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	329					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CAGCACTATTAGACAGGAAGCC	0.431		NA											False	0	False	1:22828137	0
BBX	56987	broad.mit.edu	37	3	107491556	107491557	+	Frame_Shift_Ins	INS	-	-	TTTTCAATTATATCTGTTTTAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:107491556_107491557insTTTTCAATTATATCTGTTTTAAA	ENST00000402543.1	+	12	1407_1408	c.988_989insTTTTCAATTATATCTGTTTTAAA	c.(988-990)gaafs	p.E330fs	BBX_ENST00000416476.2_Intron|BBX_ENST00000415149.2_Frame_Shift_Ins_p.E330fs|BBX_ENST00000406780.1_Frame_Shift_Ins_p.E330fs|BBX_ENST00000325805.8_Frame_Shift_Ins_p.E330fs			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AAGAATTAAAGAATTAGAGAAG	0.327		NA											False	0	False	3:107491556	0
MORC1	27136	broad.mit.edu	37	3	108746689	108746690	+	In_Frame_Ins	INS	-	-	AAATTGACTAAAGTGGTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:108746689_108746690insAAATTGACTAAAGTGGTT	ENST00000483760.1	-	17	1655_1656	c.1612_1613insAACCACTTTAGTCAATTT	c.(1612-1614)agc>aAACCACTTTAGTCAATTTgc	p.538_538S>KPL*SIC	MORC1_ENST00000232603.5_In_Frame_Ins_p.538_538S>KPL*SIC			Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	538					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGATATTGTGCTCATGGTGCCC	0.396		NA											False	0	False	3:108746689	0
CD80	941	broad.mit.edu	37	3	119263675	119263676	+	Frame_Shift_Ins	INS	-	-	CCCA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:119263675_119263676insCCCA	ENST00000264246.3	-	3	501_502	c.139_140insTGGG	c.(139-141)acgfs	p.T47fs	CD80_ENST00000383668.3_Frame_Shift_Ins_p.T47fs|CD80_ENST00000383669.3_Frame_Shift_Ins_p.T47fs|CD80_ENST00000478182.1_Frame_Shift_Ins_p.T47fs	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	47	Ig-like V-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	ACAGGACAGCGTTGCCACTTCT	0.441		NA											False	0	False	3:119263675	0
CD80	941	broad.mit.edu	37	3	119263676	119263677	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:119263676_119263677insC	ENST00000264246.3	-	3	500_501	c.138_139insG	c.(136-141)gcaacgfs	p.T47fs	CD80_ENST00000383668.3_Frame_Shift_Ins_p.T47fs|CD80_ENST00000383669.3_Frame_Shift_Ins_p.T47fs|CD80_ENST00000478182.1_Frame_Shift_Ins_p.T47fs	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	47	Ig-like V-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	CAGGACAGCGTTGCCACTTCTT	0.441		NA											False	0	False	3:119263676	0
ATP2C1	27032	broad.mit.edu	37	3	130686063	130686064	+	Frame_Shift_Ins	INS	-	-	AAAACTATAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:130686063_130686064insAAAACTATAAT	ENST00000510168.1	+	15	1747_1748	c.1197_1198insAAAACTATAAT	c.(1198-1200)gctfs	p.A400fs	ATP2C1_ENST00000359644.3_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000505330.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000422190.2_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000504948.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000507488.2_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000393221.4_Frame_Shift_Ins_p.A434fs|ATP2C1_ENST00000328560.8_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000428331.2_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000533801.2_Frame_Shift_Ins_p.A395fs|ATP2C1_ENST00000513801.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000504381.1_Frame_Shift_Ins_p.A345fs|ATP2C1_ENST00000508532.1_Frame_Shift_Ins_p.A400fs			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	400					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TCTATAACCCAGCTGTTAGCAG	0.342		NA							Hailey-Hailey disease				False	0	False	3:130686063	0
PLCH1	23007	broad.mit.edu	37	3	155199717	155199718	+	Frame_Shift_Ins	INS	-	-	AGATGTCAAAACT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:155199717_155199718insAGATGTCAAAACT	ENST00000460012.1	-	23	4364_4365	c.4007_4008insAGTTTTGACATCT	c.(4006-4008)tgtfs	p.C1336fs	PLCH1_ENST00000414191.1_Frame_Shift_Ins_p.C1336fs|PLCH1_ENST00000340059.7_Frame_Shift_Ins_p.C1374fs|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Frame_Shift_Ins_p.C1336fs|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1374					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCCTATATTCACAGGTTGTTAG	0.426		NA											False	0	False	3:155199717	0
BCHE	590	broad.mit.edu	37	3	165547549	165547550	+	Frame_Shift_Ins	INS	-	-	GAATTTGTCTTTGGTTTACCTCTGGAAAGAAGAG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:165547549_165547550insGAATTTGTCTTTGGTTTACCTCTGGAAAGAAGAG	ENST00000264381.3	-	2	1438_1439	c.1272_1273insCTCTTCTTTCCAGAGGTAAACCAAAGACAAATTC	c.(1270-1275)tataatfs	p.N425fs	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	425					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CATATGAAATTATAATCCCCAA	0.426		NA											False	0	False	3:165547549	0
ZBBX	79740	broad.mit.edu	37	3	167090732	167090733	+	Translation_Start_Site	INS	-	-	TTTTGACTATTTTGTGAATTCTTATCTTCATTTTTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:167090732_167090733insTTTTGACTATTTTGTGAATTCTTATCTTCATTTTTC	ENST00000392766.2	-	0	297_298				ZBBX_ENST00000392767.2_De_novo_Start_InFrame|ZBBX_ENST00000392764.1_De_novo_Start_InFrame|ZBBX_ENST00000307529.5_De_novo_Start_InFrame|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_De_novo_Start_InFrame	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	NA						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTGATTTGTAAACACTTCTGTA	0.302		NA											False	0	True	3:167090732	0
WDR53	348793	broad.mit.edu	37	3	196281320	196281321	+	Frame_Shift_Ins	INS	-	-	ACCAAAATATATTAGTAGCTGATCAAACTAGTTGTATA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:196281320_196281321insACCAAAATATATTAGTAGCTGATCAAACTAGTTGTATA	ENST00000433160.1	-	3	630_631	c.361_362insTATACAACTAGTTTGATCAGCTACTAATATATTTTGGT	c.(361-363)agtfs	p.S121fs	WDR53_ENST00000332629.5_Frame_Shift_Ins_p.S280fs|WDR53_ENST00000429115.1_Frame_Shift_Ins_p.S119fs			Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	280										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TTTTGTGGGACTCTTCTGTTTT	0.455		NA											False	0	False	3:196281320	0
SENP5	205564	broad.mit.edu	37	3	196626633	196626634	+	Frame_Shift_Ins	INS	-	-	AACCTATACACAGCAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:196626633_196626634insAACCTATACACAGCAC	ENST00000323460.5	+	3	1859_1860	c.1610_1611insAACCTATACACAGCAC	c.(1609-1614)ttttctfs	p.FS537fs	SENP5_ENST00000445299.2_Frame_Shift_Ins_p.FS537fs|SENP5_ENST00000419026.1_Frame_Shift_Ins_p.FS27fs	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	537					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AATGAAGACTTTTCTAATAGGT	0.307		NA											False	0	True	3:196626633	0
TLR6	10333	broad.mit.edu	37	4	38829078	38829079	+	In_Frame_Ins	INS	-	-	GATCTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:38829078_38829079insGATCTA	ENST00000381950.1	-	1	2081_2082	c.2016_2017insTAGATC	c.(2014-2019)tgtctt>tgtTAGATCctt	p.672_673CL>C*IL	TLR6_ENST00000436693.2_In_Frame_Ins_p.672_673CL>C*IL			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	672	TIR.				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCTCATGAAGACAAATCTGTA	0.371		NA											False	0	False	4:38829078	0
KCTD8	386617	broad.mit.edu	37	4	44177184	44177185	+	In_Frame_Ins	INS	-	-	GGG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:44177184_44177185insGGG	ENST00000360029.3	-	2	1327_1328	c.1044_1045insCCC	c.(1042-1047)agtggg>agtCCCggg	p.348_349SG>SPG		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	348						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CAGGAAGTCCCACTTTCACTTC	0.455		NA								HNSCC(17;0.042)			False	0	True	4:44177184	0
KCTD8	386617	broad.mit.edu	37	4	44177185	44177186	+	Frame_Shift_Ins	INS	-	-	AACAAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:44177185_44177186insAACAAAT	ENST00000360029.3	-	2	1326_1327	c.1043_1044insATTTGTT	c.(1042-1044)agtfs	p.S348fs		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	348						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						AGGAAGTCCCACTTTCACTTCC	0.455		NA								HNSCC(17;0.042)			False	0	True	4:44177185	0
POLR2B	5431	broad.mit.edu	37	4	57891701	57891702	+	Frame_Shift_Ins	INS	-	-	AAAAATTAAACAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:57891701_57891702insAAAAATTAAACAA	ENST00000381227.1	+	24	3650_3651	c.3237_3238insAAAAATTAAACAA	c.(3238-3240)cgtfs	p.R1080fs	POLR2B_ENST00000314595.5_Frame_Shift_Ins_p.R1080fs|POLR2B_ENST00000441246.2_Frame_Shift_Ins_p.R1073fs|POLR2B_ENST00000431623.2_Frame_Shift_Ins_p.R1005fs			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1080					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AGGGTAGATCTCGGTAAGAACT	0.386		NA											False	0	False	4:57891701	0
SLC4A4	8671	broad.mit.edu	37	4	72338763	72338764	+	In_Frame_Ins	INS	-	-	TTG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:72338763_72338764insTTG	ENST00000512686.1	+	11	2043_2044	c.1847_1848insTTG	c.(1846-1851)tcaaca>tcTTGaaca	p.616_617ST>S*T	SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Intron			Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	0						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGCAAATTTTCAACATGCTGTC	0.431		NA											False	0	False	4:72338763	0
SLC4A4	8671	broad.mit.edu	37	4	72338765	72338766	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:72338765_72338766insAG	ENST00000512686.1	+	11	2045_2046	c.1849_1850insAG	c.(1849-1851)acafs	p.T617fs	SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Intron			Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	0						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CAAATTTTCAACATGCTGTCAT	0.426		NA											False	0	False	4:72338765	0
ANKRD17	26057	broad.mit.edu	37	4	73987410	73987411	+	In_Frame_Ins	INS	-	-	TAAATCCCTTTATTACAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:73987410_73987411insTAAATCCCTTTATTACAA	ENST00000358602.4	-	19	3674_3675	c.3558_3559insTTGTAATAAAGGGATTTA	c.(3556-3561)cctcta>cctTTGTAATAAAGGGATTTActa	p.1187_1188ins**RDLL	ANKRD17_ENST00000330838.6_In_Frame_Ins_p.936_937ins**RDLL|ANKRD17_ENST00000509867.2_In_Frame_Ins_p.1074_1075ins**RDLL|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1187					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCCAGACTTAGAGGTGTGTAAT	0.371		NA											False	0	False	4:73987410	0
SLC10A6	345274	broad.mit.edu	37	4	87754576	87754577	+	Splice_Site	INS	-	-	AATAGCTGTTCTTAATTATATAACTCTTTATGCAG	rs150227719	by1000genomes	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:87754576_87754577insAATAGCTGTTCTTAATTATATAACTCTTTATGCAG	ENST00000273905.6	-	2	525_526	c.378_379insCTGCATAAAGAGTTATATAATTAAGAACAGCTATT	c.(376-381)agcatc>agcCTGCATAAAGAGTTATATAATTAAGAACAGCTATTatc	p.I127fs	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	127						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GTCATACTGATGCTGAAAGTAA	0.436		NA											False	0	False	4:87754576	0
UNC5C	8633	broad.mit.edu	37	4	96127941	96127942	+	Frame_Shift_Ins	INS	-	-	CAGATAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:96127941_96127942insCAGATAA	ENST00000453304.1	-	11	2087_2088	c.1739_1740insTTATCTG	c.(1738-1740)cccfs	p.-580fs		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	NA					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AGTCATCCATGGGTGGCCTAGG	0.53		NA											False	0	True	4:96127941	0
RAP1GDS1	5910	broad.mit.edu	37	4	99342510	99342511	+	In_Frame_Ins	INS	-	-	AATCAGTTGAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:99342510_99342511insAATCAGTTGAAA	ENST00000408927.3	+	12	1518_1519	c.1405_1406insAATCAGTTGAAA	c.(1405-1407)ctg>cAATCAGTTGAAAtg	p.469_469L>QSVEM	RAP1GDS1_ENST00000264572.7_In_Frame_Ins_p.378_378L>QSVEM|RAP1GDS1_ENST00000408900.3_In_Frame_Ins_p.420_420L>QSVEM|RAP1GDS1_ENST00000380158.4_In_Frame_Ins_p.421_421L>QSVEM|RAP1GDS1_ENST00000453712.2_In_Frame_Ins_p.469_469L>QSVEM|RAP1GDS1_ENST00000339360.5_In_Frame_Ins_p.470_470L>QSVEM	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	469							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GTCAAACAGACTGCTGTCTGCC	0.431		NA	T	NUP98	T-ALL								False	0	False	4:99342510	0
SLC39A8	64116	broad.mit.edu	37	4	103236987	103236988	+	Translation_Start_Site	INS	-	-	AGACCAAGTCATTCAGAAGGTATATTAGAAGCATTTTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:103236987_103236988insAGACCAAGTCATTCAGAAGGTATATTAGAAGCATTTTTT	ENST00000510255.1	-	0	147				SLC39A8_ENST00000394833.2_Splice_Site_p.73_74insKKCF*YTF*MTWS|SLC39A8_ENST00000356736.4_Splice_Site_p.73_74insKKCF*YTF*MTWS|SLC39A8_ENST00000424970.2_Splice_Site_p.73_74insKKCF*YTF*MTWS			Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	NA						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		GCAGTTAAACACTGAAATAGAA	0.351		NA											False	0	False	4:103236987	0
KIAA1109	84162	broad.mit.edu	37	4	123140719	123140733	+	Splice_Site	DEL	TGTTGTAAGTGTTTA	TGTTGTAAGTGTTTA	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TGTTGTAAGTGTTTA	TGTTGTAAGTGTTTA	-	-	TGTTGTAAGTGTTTA	TGTTGTAAGTGTTTA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:123140719_123140733delTGTTGTAAGTGTTTA	ENST00000264501.4	+	21	2845_2848	c.2472_2475delTGTTGTAAGTGTTTA	c.(2470-2475)cctgtt>cc	p.PV824del	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Splice_Site_p.PV824del|KIAA1109_ENST00000455637.1_Splice_Site_p.PV824del			Q2LD37	K1109_HUMAN	KIAA1109	824					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGCGTCTTCCTGTTGTAAGTGTTTACACATGAAAG	0.367		NA											False	1	False	4:123140719	0
INTU	27152	broad.mit.edu	37	4	128564887	128564888	+	Frame_Shift_Ins	INS	-	-	AGGTATGTCATCCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:128564887_128564888insAGGTATGTCATCCT	ENST00000335251.5	+	2	461_462	c.358_359insAGGTATGTCATCCT	c.(358-360)aggfs	p.R120fs	INTU_ENST00000296461.5_Frame_Shift_Ins_p.R120fs	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	120										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AATTTTAAGAAGGAAAAGACTT	0.351		NA											False	0	False	4:128564887	0
ELMOD2	255520	broad.mit.edu	37	4	141464739	141464740	+	Splice_Site	INS	-	-	CAGCTAGCCAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:141464739_141464740insCAGCTAGCCAAA	ENST00000323570.3	+	8	867_868	c.735_736insCAGCTAGCCAAA	c.(736-738)tgt>CAGCTAGCCAAAtgt	p.245_246insQLAK		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	245	ELMO.				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					ATCAGTTTTACTGTGAGTATTA	0.312		NA											False	0	False	4:141464739	0
TLR2	7097	broad.mit.edu	37	4	154625025	154625026	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:154625025_154625026insCA	ENST00000260010.6	+	1	2374_2375	c.966_967insCA	c.(967-969)tacfs	p.Y323fs		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	323					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TTCCAAGGTTTTACTTATTTTA	0.332		NA											False	0	True	4:154625025	0
TLR2	7097	broad.mit.edu	37	4	154625026	154625027	+	In_Frame_Ins	INS	-	-	AACCTGAAACAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:154625026_154625027insAACCTGAAACAA	ENST00000260010.6	+	1	2375_2376	c.967_968insAACCTGAAACAA	c.(967-969)tac>tAACCTGAAACAAac	p.323_323Y>*PETN		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	323					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TCCAAGGTTTTACTTATTTTAT	0.332		NA											False	0	True	4:154625026	0
FAT1	2195	broad.mit.edu	37	4	187542013	187542014	+	Frame_Shift_Ins	INS	-	-	AAGAAAGTCAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:187542013_187542014insAAGAAAGTCAC	ENST00000441802.2	-	10	5935_5936	c.5726_5727insGTGACTTTCTT	c.(5725-5727)agtfs	p.-1908fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	NA					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGAGAATGCACTTGAATCAGC	0.426		NA								HNSCC(5;0.00058)			False	0	False	4:187542013	0
KIAA0947	23379	broad.mit.edu	37	5	5463215	5463216	+	In_Frame_Ins	INS	-	-	TTCATTTCTTTACTTAGGGTTCCTTTACTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:5463215_5463216insTTCATTTCTTTACTTAGGGTTCCTTTACTA	ENST00000296564.7	+	13	3990_3991	c.3768_3769insTTCATTTCTTTACTTAGGGTTCCTTTACTA	c.(3769-3771)gaa>TTCATTTCTTTACTTAGGGTTCCTTTACTAgaa	p.1256_1257insFISLLRVPLL		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1256										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGTGTTCTTTGGAAACTCTGTC	0.381		NA											False	0	True	5:5463215	0
DNAH5	1767	broad.mit.edu	37	5	13762877	13762878	+	Translation_Start_Site	INS	-	-	TCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:13762877_13762878insTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGAT	ENST00000504001.3	-	0	741_742				DNAH5_ENST00000265104.4_Frame_Shift_Ins_p.A3412fs			Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	NA					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGAAGCCATAGCTTTCGTCCAG	0.46		NA							Kartagener syndrome				False	0	True	5:13762877	0
PRDM9	56979	broad.mit.edu	37	5	23524634	23524635	+	Frame_Shift_Ins	INS	-	-	TTCCCAGTATC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:23524634_23524635insTTCCCAGTATC	ENST00000296682.3	+	10	1324_1325	c.1142_1143insTTCCCAGTATC	c.(1141-1146)agagaafs	p.RE381fs		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	381				Missing (in Ref. 4; AAF87242).	meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATGGCAGGGAGAGGTAGGCATC	0.446		NA								HNSCC(3;0.000094)			False	0	False	5:23524634	0
FYB	2533	broad.mit.edu	37	5	39153670	39153671	+	Frame_Shift_Ins	INS	-	-	CAAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:39153670_39153671insCAAAT	ENST00000351578.6	-	3	1361_1362	c.1171_1172insATTTG	c.(1171-1173)tccfs	p.S391fs	FYB_ENST00000505428.1_Frame_Shift_Ins_p.S391fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.S401fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.S391fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.S391fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	391	Interaction with SKAP1.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGTGGCAGGGAAGTTGTTGAG	0.47		NA											False	0	True	5:39153670	0
PRKAA1	5562	broad.mit.edu	37	5	40769602	40769603	+	Frame_Shift_Ins	INS	-	-	TTGTCTTTTTCTCCTAGATTTTGTTAGTCTATAGTGTCATATTTAATTCTAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:40769602_40769603insTTGTCTTTTTCTCCTAGATTTTGTTAGTCTATAGTGTCATATTTAATTCTAAT	ENST00000296800.4	-	5	495_496	c.484_485insATTAGAATTAAATATGACACTATAGACTAACAAAATCTAGGAGAAAAAGACAA	c.(484-486)cttfs	p.L162fs	PRKAA1_ENST00000397128.2_Frame_Shift_Ins_p.L171fs|PRKAA1_ENST00000354209.3_Frame_Shift_Ins_p.L186fs			Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	171	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	CATGTTTGAAAGACCTGAAAGT	0.332		NA											False	0	True	5:40769602	0
DDX4	54514	broad.mit.edu	37	5	55075881	55075882	+	Frame_Shift_Ins	INS	-	-	AAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:55075881_55075882insAAAT	ENST00000505374.1	+	8	576_577	c.484_485insAAAT	c.(484-486)ctafs	p.L162fs	DDX4_ENST00000511853.1_Intron|DDX4_ENST00000354991.5_Intron|DDX4_ENST00000514278.2_Frame_Shift_Ins_p.L142fs|DDX4_ENST00000353507.5_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
GPBP1	65056	broad.mit.edu	37	5	56527147	56527149	+	Splice_Site	DEL	TTG	TTG	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TTG	TTG	-	-	TTG	TTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:56527147_56527149delTTG	ENST00000424459.3	+	5	1684_1685	c.410_411delTTG	c.(409-411)ttt>t	p.F137del	GPBP1_ENST00000514387.2_5'UTR|GPBP1_ENST00000264779.6_Splice_Site_p.F144del|GPBP1_ENST00000454432.2_Splice_Site_p.F137del|GPBP1_ENST00000538707.1_Splice_Site_p.F144del|GPBP1_ENST00000511209.1_Splice_Site_p.F144del|GPBP1_ENST00000506184.2_Splice_Site_p.F137del	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GCTGAGGATTTTGTAAGTTTTTT	0.399		NA											False	1	True	5:56527147	0
RAD17	5884	broad.mit.edu	37	5	68669819	68669820	+	Translation_Start_Site	INS	-	-	ATGTAAATATAATCACA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:68669819_68669820insATGTAAATATAATCACA	ENST00000521422.1	+	0	414_415				RAD17_ENST00000504177.1_Intron|RAD17_ENST00000509734.1_Frame_Shift_Ins_p.L69fs|RAD17_ENST00000358030.2_De_novo_Start_OutOfFrame|RAD17_ENST00000354868.5_Frame_Shift_Ins_p.L58fs|RAD17_ENST00000282891.6_Intron|RAD17_ENST00000361732.2_Frame_Shift_Ins_p.L58fs|RAD17_ENST00000345306.6_Frame_Shift_Ins_p.L58fs|RAD17_ENST00000354312.3_Frame_Shift_Ins_p.L58fs|RAD17_ENST00000380774.3_Frame_Shift_Ins_p.L69fs|RAD17_ENST00000305138.4_Frame_Shift_Ins_p.L58fs			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	NA					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding				NA		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AAGAGGAAATCTATCTTCCTTA	0.351		NA						Other conserved DNA damage response genes					False	0	True	5:68669819	0
BDP1	55814	broad.mit.edu	37	5	70805871	70805872	+	In_Frame_Ins	INS	-	-	TCTATTTCCTCAGTGGCATCAATCACCTCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:70805871_70805872insTCTATTTCCTCAGTGGCATCAATCACCTCT	ENST00000358731.4	+	17	3215_3216	c.2952_2953insTCTATTTCCTCAGTGGCATCAATCACCTCT	c.(2953-2955)gaa>TCTATTTCCTCAGTGGCATCAATCACCTCTgaa	p.984_985insSISSVASITS	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	984	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)		ACAAAAATTTGGAAGAAACTGG	0.446		NA											False	0	False	5:70805871	0
BDP1	55814	broad.mit.edu	37	5	70806578	70806579	+	In_Frame_Ins	INS	-	-	CTCCATTTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:70806578_70806579insCTCCATTTC	ENST00000358731.4	+	17	3922_3923	c.3659_3660insCTCCATTTC	c.(3658-3663)gtaggt>gtCTCCATTTCaggt	p.1220_1221VG>VSISG	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	1220	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)		GTCAAGCCTGTAGGTAAAATGG	0.416		NA											False	0	False	5:70806578	0
BDP1	55814	broad.mit.edu	37	5	70806873	70806874	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:70806873_70806874insTG	ENST00000358731.4	+	17	4217_4218	c.3954_3955insTG	c.(3955-3957)aggfs	p.R1319fs	BDP1_ENST00000380675.2_De_novo_Start_OutOfFrame	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1319	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)		ACATTTCTCCAAGGGAAAACGA	0.416		NA											False	0	True	5:70806873	0
BDP1	55814	broad.mit.edu	37	5	70806874	70806875	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:70806874_70806875insT	ENST00000358731.4	+	17	4218_4219	c.3955_3956insT	c.(3955-3957)aggfs	p.R1319fs	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	1319	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)		CATTTCTCCAAGGGAAAACGAG	0.411		NA											False	0	True	5:70806874	0
WDR41	55255	broad.mit.edu	37	5	76785385	76785386	+	In_Frame_Ins	INS	-	-	GGAAGAGGTTTTAGGGAATTTTATGTTAAACACCTTTAAAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:76785385_76785386insGGAAGAGGTTTTAGGGAATTTTATGTTAAACACCTTTAAAAT	ENST00000296679.4	-	2	438_439	c.63_64insATTTTAAAGGTGTTTAACATAAAATTCCCTAAAACCTCTTCC	c.(61-66)ttacag>ttaATTTTAAAGGTGTTTAACATAAAATTCCCTAAAACCTCTTCCcag	p.21_22LQ>LILKVFNIKFPKTSSQ	WDR41_ENST00000507029.1_Intron|WDR41_ENST00000414719.2_5'UTR	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	21										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		CCTATTGTCTGTAAAGGAGATT	0.317		NA											False	0	True	5:76785385	0
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534		NA											False	1	False	5:78610444	0
MSH3	4437	broad.mit.edu	37	5	80064776	80064777	+	In_Frame_Ins	INS	-	-	GTGGTTCCAATTGTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:80064776_80064777insGTGGTTCCAATTGTC	ENST00000265081.6	+	15	2287_2288	c.2207_2208insGTGGTTCCAATTGTC	c.(2206-2211)atacta>atGTGGTTCCAATTGTCacta	p.736_736I>MWFQLS		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	736					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATACGAAAAATACTAAAAAATC	0.322		NA						Mismatch excision repair (MMR)					False	0	False	5:80064776	0
GPR98	84059	broad.mit.edu	37	5	89933756	89933757	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:89933756_89933757insT	ENST00000405460.2	+	11	2327_2328	c.2231_2232insT	c.(2230-2235)tctctafs	p.L745fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	745	Calx-beta 5.				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)		GTAACACTTTCTCTAGACAGGT	0.297		NA											False	1	False	5:89933756	0
GPR98	84059	broad.mit.edu	37	5	89933758	89933759	+	Frame_Shift_Ins	INS	-	-	TAAAATA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:89933758_89933759insTAAAATA	ENST00000405460.2	+	11	2329_2330	c.2233_2234insTAAAATA	c.(2233-2235)ctafs	p.-745fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	NA					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)		AACACTTTCTCTAGACAGGTAA	0.297		NA											False	0	False	5:89933758	0
FER	2241	broad.mit.edu	37	5	108207143	108207144	+	Frame_Shift_Ins	INS	-	-	GAACAATAAGCATAAGAAATGT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:108207143_108207144insGAACAATAAGCATAAGAAATGT	ENST00000281092.4	+	7	1127_1128	c.743_744insGAACAATAAGCATAAGAAATGT	c.(742-747)caaatgfs	p.M249fs	FER_ENST00000438717.2_Frame_Shift_Ins_p.M74fs|FER_ENST00000536402.1_Frame_Shift_Ins_p.M249fs	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	249	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AAAGAGATTCAAATGTCGGTTG	0.317		NA											False	0	True	5:108207143	0
MACF1	23499	broad.mit.edu	37	1	39800633	39800634	+	In_Frame_Ins	INS	-	-	TCACTCTCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:39800633_39800634insTCACTCTCT	ENST00000372915.3	+	36	8475_8476	c.8388_8389insTCACTCTCT	c.(8389-8391)gat>TCACTCTCTgat	p.2796_2797insSLS	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_In_Frame_Ins_p.2828_2829insSLS|MACF1_ENST00000564288.1_In_Frame_Ins_p.2791_2792insSLS|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_In_Frame_Ins_p.1231_1232insSLS|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2796					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTCTAGGAAAGGATATGTTAAT	0.351		NA											False	0	False	1:39800633	0
MACF1	23499	broad.mit.edu	37	1	39800634	39800635	+	Frame_Shift_Ins	INS	-	-	ATCACTAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:39800634_39800635insATCACTAA	ENST00000372915.3	+	36	8476_8477	c.8389_8390insATCACTAA	c.(8389-8391)gatfs	p.-2797fs	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.-2829fs|MACF1_ENST00000564288.1_Frame_Shift_Ins_p.-2792fs|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.-1232fs|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	NA					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTAGGAAAGGATATGTTAATT	0.356		NA											False	0	False	1:39800634	0
ZFP69	339559	broad.mit.edu	37	1	40960942	40960943	+	In_Frame_Ins	INS	-	-	TTCCTGGTGCCTTTC	rs116083793	by1000genomes	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:40960942_40960943insTTCCTGGTGCCTTTC	ENST00000372706.1	+	6	1798_1799	c.792_793insTTCCTGGTGCCTTTC	c.(793-795)tac>TTCCTGGTGCCTTTCtac	p.264_265insFLVPF	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_In_Frame_Ins_p.264_265insFLVPF					ZFP69 zinc finger protein	NA											NA						ATCCAACAAGTTACATAAGAAC	0.307		NA											False	0	False	1:40960942	0
ZFP69	339559	broad.mit.edu	37	1	40960944	40960945	+	In_Frame_Ins	INS	-	-	AGACATCAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:40960944_40960945insAGACATCAT	ENST00000372706.1	+	6	1800_1801	c.794_795insAGACATCAT	c.(793-798)tacata>taAGACATCATcata	p.265_265Y>*DII	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_In_Frame_Ins_p.265_265Y>*DII					ZFP69 zinc finger protein	NA											NA						CCAACAAGTTACATAAGAACAA	0.307		NA											False	0	False	1:40960944	0
CCDC30	728621	broad.mit.edu	37	1	43047133	43047134	+	In_Frame_Ins	INS	-	-	ACATAG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:43047133_43047134insACATAG	ENST00000340612.4	+	7	1168_1169	c.1168_1169insACATAG	c.(1168-1170)aca>aACATAGca	p.390_390T>NIA	CCDC30_ENST00000342022.4_In_Frame_Ins_p.390_390T>NIA|CCDC30_ENST00000507855.1_In_Frame_Ins_p.179_179T>NIA|CCDC30_ENST00000390640.4_In_Frame_Ins_p.179_179T>NIA|CCDC30_ENST00000428554.2_In_Frame_Ins_p.390_390T>NIA			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	390										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AAAAGAAGCAACACAAAATGAA	0.406		NA											False	0	False	1:43047133	0
WDR36	134430	broad.mit.edu	37	5	110428229	110428230	+	Frame_Shift_Ins	INS	-	-	ACATAAA	rs149994285	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:110428229_110428230insACATAAA	ENST00000513710.2	+	1	247_248	c.243_244insACATAAA	c.(244-246)gacfs	p.D82fs	WDR36_ENST00000505303.1_Frame_Shift_Ins_p.D26fs|WDR36_ENST00000506538.2_Frame_Shift_Ins_p.D82fs			Q8NI36	WDR36_HUMAN	WD repeat domain 36	82					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TTTTCAGCAACGACATTCCACA	0.594		NA											False	0	False	5:110428229	0
BRD8	10902	broad.mit.edu	37	5	137502395	137502396	+	In_Frame_Ins	INS	-	-	TTTCATTTT	rs138533060		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:137502395_137502396insTTTCATTTT	ENST00000254900.5	-	10	1179_1180	c.808_809insAAAATGAAA	c.(808-810)ctt>cAAAATGAAAtt	p.270_270L>QNEI	BRD8_ENST00000230901.5_In_Frame_Ins_p.343_343L>QNEI|BRD8_ENST00000455658.2_In_Frame_Ins_p.229_229L>QNEI|BRD8_ENST00000411594.2_Intron|BRD8_ENST00000402931.1_In_Frame_Ins_p.270_270L>QNEI	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	270					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGCTTCTAAAAGCCGGGAAAGA	0.441		NA											False	0	True	5:137502395	0
PCDHB7	0	broad.mit.edu	37	5	140552655	140552656	+	In_Frame_Ins	INS	-	-	CCACTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:140552655_140552656insCCACTC	ENST00000231137.3	+	1	413_414	c.239_240insCCACTC	c.(238-243)cttact>ctCCACTCtact	p.80_81LT>LHST		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		80	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAGTTCGCTTACTGGTGATC	0.47		NA											False	0	False	5:140552655	0
PCDHGA7	0	broad.mit.edu	37	5	140763524	140763525	+	Frame_Shift_Ins	INS	-	-	CGAGTTCAGA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:140763524_140763525insCGAGTTCAGA	ENST00000518325.1	+	1	1058_1059	c.1058_1059insCGAGTTCAGA	c.(1057-1062)agtagcfs	p.S354fs	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_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)			ACGTCTTTAAGTAGCTCAATCC	0.436		NA											False	0	False	5:140763524	0
AFAP1L1	134265	broad.mit.edu	37	5	148697359	148697360	+	Frame_Shift_Ins	INS	-	-	AGTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:148697359_148697360insAGTT	ENST00000296721.4	+	12	1433_1434	c.1335_1336insAGTT	c.(1336-1338)tatfs	p.Y446fs	AFAP1L1_ENST00000515000.1_Frame_Shift_Ins_p.Y446fs	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	446	PH 2.						protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAACACTCTGTATTTCCACAA	0.594		NA									OREG0016911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	5:148697359	0
CLINT1	9685	broad.mit.edu	37	5	157218881	157218882	+	Frame_Shift_Ins	INS	-	-	TCATTGAATGATAGATTAGTAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:157218881_157218882insTCATTGAATGATAGATTAGTAT	ENST00000523094.1	-	10	1360_1361	c.1155_1156insATACTAATCTATCATTCAATGA	c.(1153-1158)cttgttfs	p.V386fs	CLINT1_ENST00000411809.2_Frame_Shift_Ins_p.V404fs|CLINT1_ENST00000523908.1_Frame_Shift_Ins_p.V404fs|CLINT1_ENST00000296951.5_Frame_Shift_Ins_p.V386fs|CLINT1_ENST00000530742.1_Frame_Shift_Ins_p.V386fs	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	404					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGCCACTAACAAGTTCTACCG	0.54		NA											False	0	False	5:157218881	0
LCP2	3937	broad.mit.edu	37	5	169685144	169685145	+	Frame_Shift_Ins	INS	-	-	CAGGCAGA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:169685144_169685145insCAGGCAGA	ENST00000046794.5	-	16	1611_1612	c.996_997insTCTGCCTG	c.(994-999)ccagcafs	p.A333fs	LCP2_ENST00000521416.1_Frame_Shift_Ins_p.A128fs	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	333					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGAAGTAGTGCTGGCTGGGGCA	0.5		NA											False	0	True	5:169685144	0
DRD1	1812	broad.mit.edu	37	5	174869195	174869196	+	Frame_Shift_Ins	INS	-	-	ATGTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:174869195_174869196insATGTT	ENST00000393752.2	-	2	1899_1900	c.907_908insAACAT	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
EEF1E1	9521	broad.mit.edu	37	6	8097696	8097697	+	Frame_Shift_Ins	INS	-	-	TTAATCA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:8097696_8097697insTTAATCA	ENST00000379715.5	-	2	147_148	c.91_92insTGATTAA	c.(91-93)ccafs	p.P31fs	EEF1E1_ENST00000429723.2_Frame_Shift_Ins_p.P31fs|EEF1E1-MUTED_ENST00000397456.2_Frame_Shift_Ins_p.P31fs|EEF1E1_ENST00000507463.1_Frame_Shift_Ins_p.P31fs	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	31					negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					CTGAAGAACTGGAATCTTAAAA	0.351		NA											False	0	False	6:8097696	0
EEF1E1	9521	broad.mit.edu	37	6	8097697	8097698	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:8097697_8097698insA	ENST00000379715.5	-	2	146_147	c.90_91insT	c.(88-93)attccafs	p.P31fs	EEF1E1_ENST00000429723.2_Frame_Shift_Ins_p.P31fs|EEF1E1-MUTED_ENST00000397456.2_Frame_Shift_Ins_p.P31fs|EEF1E1_ENST00000507463.1_Frame_Shift_Ins_p.P31fs	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	31					negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					TGAAGAACTGGAATCTTAAAAA	0.351		NA											False	2	False	6:8097697	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158765	26158766	+	In_Frame_Ins	INS	-	-	ATA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:26158765_26158766insATA	ENST00000289316.2	+	1	392_393	c.368_369insATA	c.(367-372)accagt>acATAcagt	p.123_124TS>TYS	HIST1H2BD_ENST00000377777.4_In_Frame_Ins_p.123_124TS>TYS	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	123					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						ACCAAGTACACCAGTTCCAAGT	0.52		NA											False	0	False	6:26158765	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158766	26158767	+	Frame_Shift_Ins	INS	-	-	ACTGAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:26158766_26158767insACTGAAT	ENST00000289316.2	+	1	393_394	c.369_370insACTGAAT	c.(370-372)agtfs	p.S124fs	HIST1H2BD_ENST00000377777.4_Frame_Shift_Ins_p.S124fs	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	124					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						CCAAGTACACCAGTTCCAAGTA	0.52		NA											False	0	False	6:26158766	0
BTN2A3P	0	broad.mit.edu	37	6	26428290	26428291	+	RNA	INS	-	-	CCAG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:26428290_26428291insCCAG	ENST00000466808.2	+	0	1259_1260										NA											NA						AGAAAGAACATGTGGAAAAAGA	0.436		NA											False	0	False	6:26428290	0
CDSN	1041	broad.mit.edu	37	6	31084943	31084945	+	In_Frame_Del	DEL	CTT	CTT	-	rs34182778		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:31084943_31084945delCTT	ENST00000376288.2	-	2	473_475	c.447_449delAAG	c.(445-450)ggaagc>ggc	p.S153del	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	153	Ser-rich.		Missing.		cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						AGAGCTGCTGCTTCCCGAGTGAG	0.571		NA											False	1	True	6:31084943	0
RXRB	6257	broad.mit.edu	37	6	33165666	33165667	+	Frame_Shift_Ins	INS	-	-	GACTGCTCTCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:33165666_33165667insGACTGCTCTCT	ENST00000374680.3	-	4	903_904	c.692_693insAGAGAGCAGTC	c.(691-693)cgcfs	p.-231fs	RXRB_ENST00000413614.2_Frame_Shift_Ins_p.-135fs|RXRB_ENST00000374685.4_Frame_Shift_Ins_p.-231fs|RXRB_ENST00000544186.1_Frame_Shift_Ins_p.-41fs	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	NA					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGCGGATGGTGCGTTTGAAGAA	0.53		NA											False	0	False	6:33165666	0
MLN	4295	broad.mit.edu	37	6	33768838	33768839	+	Frame_Shift_Ins	INS	-	-	GAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:33768838_33768839insGAAA	ENST00000430124.2	-	2	167_168	c.102_103insTTTC	c.(100-105)gaactcfs	p.L35fs	MLN_ENST00000507738.1_Frame_Shift_Ins_p.L35fs|MLN_ENST00000266003.5_Frame_Shift_Ins_p.L35fs	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN	motilin	35					cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						ATCCTCTGGAGTTCGCCATAGG	0.574		NA											False	0	False	6:33768838	0
UHRF1BP1	54887	broad.mit.edu	37	6	34824118	34824119	+	Frame_Shift_Ins	INS	-	-	AAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:34824118_34824119insAAAA	ENST00000192788.5	+	10	1394_1395	c.1223_1224insAAAA	c.(1222-1227)tggcatfs	p.WH408fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.WH408fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	408										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						ATGGAGAAGTGGCATGAAGAGA	0.535		NA											False	0	False	6:34824118	0
UHRF1BP1	54887	broad.mit.edu	37	6	34824119	34824120	+	In_Frame_Ins	INS	-	-	ATTTTAGCCCAAGAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:34824119_34824120insATTTTAGCCCAAGAT	ENST00000192788.5	+	10	1395_1396	c.1224_1225insATTTTAGCCCAAGAT	c.(1225-1227)cat>ATTTTAGCCCAAGATcat	p.408_409insILAQD	UHRF1BP1_ENST00000452449.2_In_Frame_Ins_p.408_409insILAQD	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	408										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGGAGAAGTGGCATGAAGAGAC	0.53		NA											False	0	False	6:34824119	0
TNFRSF21	27242	broad.mit.edu	37	6	47254274	47254275	+	In_Frame_Ins	INS	-	-	CCCCAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:47254274_47254275insCCCCAT	ENST00000296861.2	-	2	546_547	c.153_154insATGGGG	c.(151-156)attggc>attATGGGGggc	p.51_52IG>IMGG		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	51					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CGGTATGTGCCAATGAGATTCG	0.515		NA											False	0	False	6:47254274	0
CD109	135228	broad.mit.edu	37	6	74492428	74492429	+	Frame_Shift_Ins	INS	-	-	ACAAAATGAATGTCAATCACTTGAG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:74492428_74492429insACAAAATGAATGTCAATCACTTGAG	ENST00000287097.5	+	18	2167_2168	c.2055_2056insACAAAATGAATGTCAATCACTTGAG	c.(2056-2058)gtcfs	p.V686fs	CD109_ENST00000437994.2_Frame_Shift_Ins_p.V686fs|CD109_ENST00000422508.2_Frame_Shift_Ins_p.V609fs			Q6YHK3	CD109_HUMAN	CD109 molecule	686	Bait region (approximate) (By similarity).					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGTCCACATGTCCGAAAGCA	0.351		NA											False	0	False	6:74492428	0
DIO1	1733	broad.mit.edu	37	1	54370396	54370397	+	Frame_Shift_Ins	INS	-	-	TTCTGTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:54370396_54370397insTTCTGTT	ENST00000361921.3	+	2	419_420	c.395_396insTTCTGTT	c.(394-399)aaatttfs	p.KF132fs	DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000322679.6_Frame_Shift_Ins_p.KF132fs|DIO1_ENST00000532493.1_Intron|DIO1_ENST00000525202.1_Frame_Shift_Ins_p.KF68fs|DIO1_ENST00000524406.1_Frame_Shift_Ins_p.KF3fs|DIO1_ENST00000388876.3_Intron	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	132					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						TTTATGTTCAAATTTGACCAGT	0.391		NA											False	0	True	1:54370396	0
GRIK2	2898	broad.mit.edu	37	6	102503417	102503429	+	Frame_Shift_Del	DEL	TTTTTATACAAAT	TTTTTATACAAAT	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TTTTTATACAAAT	TTTTTATACAAAT	-	-	TTTTTATACAAAT	TTTTTATACAAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:102503417_102503429delTTTTTATACAAAT	ENST00000369138.1	+	15	3014_3026	c.2524_2536delTTTTTATACAAAT	c.(2524-2538)tttttatacaaatccfs	p.FLYKS842fs	GRIK2_ENST00000318991.6_Frame_Shift_Del_p.FLYKS842fs|GRIK2_ENST00000413795.1_Frame_Shift_Del_p.FLYKS842fs|GRIK2_ENST00000369137.3_Frame_Shift_Del_p.FLYKS766fs|GRIK2_ENST00000369134.4_Frame_Shift_Del_p.FLYKS793fs|GRIK2_ENST00000421544.1_Frame_Shift_Del_p.FLYKS842fs	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	842					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.Y844*(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AGTGGGAGAATTTTTATACAAATCCAAAAAAAA	0.371		NA											False	1	False	6:102503417	0
POPDC3	64208	broad.mit.edu	37	6	105609597	105609598	+	Frame_Shift_Ins	INS	-	-	GATTGCTTTG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:105609597_105609598insGATTGCTTTG	ENST00000254765.3	-	2	465_466	c.187_188insCAAAGCAATC	c.(187-189)tgtfs	p.C63fs	BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000369122.3_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	63						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GACAGCAGAACAGAGAAAACCC	0.421		NA											False	0	False	6:105609597	0
THEMIS	387357	broad.mit.edu	37	6	128134142	128134143	+	Frame_Shift_Ins	INS	-	-	TGTGTTTTGCTTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:128134142_128134143insTGTGTTTTGCTTA	ENST00000368250.1	-	5	1904_1905	c.1406_1407insTAAGCAAAACACA	c.(1405-1407)agcfs	p.-469fs	THEMIS_ENST00000537166.1_Frame_Shift_Ins_p.-513fs|THEMIS_ENST00000368248.2_Frame_Shift_Ins_p.-548fs|THEMIS_ENST00000543064.1_Frame_Shift_Ins_p.-548fs			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	NA					negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.S548T(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						GTGAGGCTGAGCTTTCATATCT	0.465		NA											False	0	True	6:128134142	0
HIVEP2	3097	broad.mit.edu	37	6	143095710	143095711	+	Frame_Shift_Ins	INS	-	-	TTTTCCTATA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:143095710_143095711insTTTTCCTATA	ENST00000367604.1	-	4	804_805	c.165_166insTATAGGAAAA	c.(163-168)atcggafs	p.G56fs	HIVEP2_ENST00000367603.2_Frame_Shift_Ins_p.G56fs|HIVEP2_ENST00000012134.2_Frame_Shift_Ins_p.G56fs			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I55I(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCTGTGTTTCCGATTTGCTCAG	0.495		NA											False	0	False	6:143095710	0
UTRN	7402	broad.mit.edu	37	6	144999699	144999700	+	Frame_Shift_Ins	INS	-	-	TAGATAATGCAAGTGTTAGGAATCAGTATATCTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:144999699_144999700insTAGATAATGCAAGTGTTAGGAATCAGTATATCTTT	ENST00000367545.3	+	51	7637_7638	c.7637_7638insTAGATAATGCAAGTGTTAGGAATCAGTATATCTTT	c.(7636-7641)aaatctfs	p.KS2546fs	UTRN_ENST00000367526.4_Frame_Shift_Ins_p.KS101fs	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2546					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTAAAAGCAAAATCTGCTAGCA	0.371		NA											False	0	True	6:144999699	0
SYNE1	23345	broad.mit.edu	37	6	152642949	152642950	+	Frame_Shift_Ins	INS	-	-	TTTTAGTTGAACATACTTGTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:152642949_152642950insTTTTAGTTGAACATACTTGTTT	ENST00000367255.5	-	83	16590_16591	c.15989_15990insAAACAAGTATGTTCAACTAAAA	c.(15988-15990)actfs	p.-5330fs	SYNE1_ENST00000265368.4_Frame_Shift_Ins_p.-5330fs|SYNE1_ENST00000423061.1_Frame_Shift_Ins_p.-5259fs|SYNE1_ENST00000448038.1_Frame_Shift_Ins_p.-5259fs|SYNE1_ENST00000341594.5_Frame_Shift_Ins_p.-5003fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	NA					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATTGATCTGAGTCTCCACCAT	0.391		NA								HNSCC(10;0.0054)			False	0	False	6:152642949	0
COL28A1	340267	broad.mit.edu	37	7	7398398	7398399	+	Frame_Shift_Ins	INS	-	-	CAATACAAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:7398398_7398399insCAATACAAAT	ENST00000399429.3	-	35	3383_3384	c.3243_3244insATTTGTATTG	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
STK31	56164	broad.mit.edu	37	7	23775195	23775196	+	Frame_Shift_Ins	INS	-	-	ATCTCTATATTACTTTGCTGTTGGCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:23775195_23775196insATCTCTATATTACTTTGCTGTTGGCT	ENST00000354639.3	+	7	917_918	c.453_454insATCTCTATATTACTTTGCTGTTGGCT	c.(454-456)atafs	p.-152fs	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Frame_Shift_Ins_p.-152fs|STK31_ENST00000433467.2_Frame_Shift_Ins_p.-175fs|STK31_ENST00000355870.3_Frame_Shift_Ins_p.-175fs	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	NA							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTGAAAAGGAAATAAAAATGAG	0.386		NA											False	0	True	7:23775195	0
NEUROD6	63974	broad.mit.edu	37	7	31378366	31378367	+	In_Frame_Ins	INS	-	-	GCGTATGAATCCTTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:31378366_31378367insGCGTATGAATCCTTC	ENST00000297142.3	-	2	838_839	c.516_517insGAAGGATTCATACGC	c.(514-519)ccaact>ccaGAAGGATTCATACGCact	p.172_173PT>PEGFIRT		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	172					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AAGTTTGTAGTTGGCTGGGAAA	0.51		NA											False	0	False	7:31378366	0
NME8	51314	broad.mit.edu	37	7	37924009	37924010	+	Frame_Shift_Ins	INS	-	-	TTTTG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:37924009_37924010insTTTTG	ENST00000199447.4	+	13	1471_1472	c.1099_1100insTTTTG	c.(1099-1101)aatfs	p.N367fs	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Frame_Shift_Ins_p.N367fs	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	367	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity				NA						GGAATATGAAAATGAAGACTAT	0.307		NA											False	0	True	7:37924009	0
NME8	51314	broad.mit.edu	37	7	37924010	37924011	+	Frame_Shift_Ins	INS	-	-	AAGTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:37924010_37924011insAAGTT	ENST00000199447.4	+	13	1472_1473	c.1100_1101insAAGTT	c.(1099-1104)aatgaafs	p.NE367fs	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Frame_Shift_Ins_p.NE367fs	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	367	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity				NA						GAATATGAAAATGAAGACTATT	0.307		NA											False	0	True	7:37924010	0
GRB10	2887	broad.mit.edu	37	7	50683966	50683967	+	Frame_Shift_Ins	INS	-	-	CTTAATAAGC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:50683966_50683967insCTTAATAAGC	ENST00000403097.1	-	10	1686_1687	c.906_907insGCTTATTAAG	c.(904-909)aaaaagfs	p.K303fs	GRB10_ENST00000398812.2_Frame_Shift_Ins_p.K309fs|GRB10_ENST00000402497.1_Frame_Shift_Ins_p.K251fs|GRB10_ENST00000407526.1_Frame_Shift_Ins_p.K251fs|GRB10_ENST00000439599.1_Frame_Shift_Ins_p.K303fs|GRB10_ENST00000406641.1_Frame_Shift_Ins_p.K251fs|GRB10_ENST00000335866.3_Frame_Shift_Ins_p.K251fs|GRB10_ENST00000357271.5_Intron|GRB10_ENST00000402578.1_Frame_Shift_Ins_p.K251fs|GRB10_ENST00000401949.1_Frame_Shift_Ins_p.K309fs|GRB10_ENST00000398810.2_Frame_Shift_Ins_p.K251fs			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	309	PH.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					ACATACAGCTTTTTCCATGATT	0.406		NA							Russell-Silver syndrome				False	0	True	7:50683966	0
COBL	23242	broad.mit.edu	37	7	51153000	51153001	+	Splice_Site	INS	-	-	TTAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:51153000_51153001insTTAAT	ENST00000265136.7	-	7	1123_1124	c.958_959insATTAA	c.(958-960)gta>gATTAAta	p.V320fs	COBL_ENST00000395542.2_Splice_Site_p.V345fs|COBL_ENST00000395540.2_Splice_Site_p.V320fs|COBL_ENST00000441453.1_Splice_Site_p.V320fs	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	320	Pro-rich.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCCAAGAGATACCTATGAAGTA	0.51		NA											False	0	False	7:51153000	0
ZNF273	10793	broad.mit.edu	37	7	64388279	64388280	+	In_Frame_Ins	INS	-	-	TGTCCATATTTTCCATATCTTCTCAGTATC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:64388279_64388280insTGTCCATATTTTCCATATCTTCTCAGTATC	ENST00000476120.1	+	4	644_645	c.573_574insTGTCCATATTTTCCATATCTTCTCAGTATC	c.(574-576)aat>TGTCCATATTTTCCATATCTTCTCAGTATCaat	p.191_192insCPYFPYLLSI	ZNF273_ENST00000319636.5_In_Frame_Ins_p.126_127insCPYFPYLLSI|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				ATAAATTCTCAAATTCAAATAT	0.302		NA											False	0	True	7:64388279	0
IFI44	10561	broad.mit.edu	37	1	79116059	79116060	+	In_Frame_Ins	INS	-	-	ATATTTTCCATTAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:79116059_79116060insATATTTTCCATTAAA	ENST00000370747.4	+	2	264_265	c.179_180insATATTTTCCATTAAA	c.(178-183)attatt>atATATTTTCCATTAAAtatt	p.60_61II>IYFPLNI	IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	60					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						GAAGATCATATTATTGGAGCAT	0.381		NA											False	0	False	1:79116059	0
KMT2E	55904	broad.mit.edu	37	7	104717571	104717572	+	Frame_Shift_Ins	INS	-	-	CTTACGG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:104717571_104717572insCTTACGG	ENST00000311117.3	+	10	1475_1476	c.930_931insCTTACGG	c.(931-933)aatfs	p.N311fs	KMT2E_ENST00000334877.4_Frame_Shift_Ins_p.N311fs|KMT2E_ENST00000476671.1_Frame_Shift_Ins_p.N311fs|KMT2E_ENST00000257745.4_Frame_Shift_Ins_p.N311fs|KMT2E_ENST00000334914.7_5'UTR	NM_182931.2	NP_891847.1			lysine (K)-specific methyltransferase 2E	NA											NA						TAGGCAATGGAAATGACAAAAA	0.371		NA											False	0	True	7:104717571	0
LRRC4	64101	broad.mit.edu	37	7	127669550	127669551	+	In_Frame_Ins	INS	-	-	CACAGTAACAGT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:127669550_127669551insCACAGTAACAGT	ENST00000249363.3	-	2	1400_1401	c.1143_1144insACTGTTACTGTG	c.(1141-1146)tccgtg>tccACTGTTACTGTGgtg	p.381_382SV>STVTVV	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	381	Ig-like.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		AACCACTTCACGGAGGACATAG	0.579		NA											False	0	False	7:127669550	0
TAS2R3	50831	broad.mit.edu	37	7	141464367	141464368	+	In_Frame_Ins	INS	-	-	AGAATTCTATTAAAAAACTAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:141464367_141464368insAGAATTCTATTAAAAAACTAT	ENST00000247879.2	+	1	471_472	c.409_410insAGAATTCTATTAAAAAACTAT	c.(409-411)gca>gAGAATTCTATTAAAAAACTATca	p.137_137A>ENSIKKLS	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	137					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					GCTGTTGGGTGCACTGCTCTTA	0.485		NA											False	0	False	7:141464367	0
RNF32	140545	broad.mit.edu	37	7	156437351	156437352	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:156437351_156437352insT	ENST00000392741.2	+	2	262_263	c.174_175insT	c.(175-177)atafs	p.I59fs	RNF32_ENST00000343665.4_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000311822.8_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000392743.2_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000432459.2_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000392740.1_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000317955.5_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000405335.1_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000480011.1_3'UTR			Q9H0A6	RNF32_HUMAN	ring finger protein 32	59						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ATACAAAGGCAATAATAGATAC	0.361		NA											False	0	False	7:156437351	0
RNF32	140545	broad.mit.edu	37	7	156437352	156437353	+	Frame_Shift_Ins	INS	-	-	TTTAGAGGAGTATTATG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:156437352_156437353insTTTAGAGGAGTATTATG	ENST00000392741.2	+	2	263_264	c.175_176insTTTAGAGGAGTATTATG	c.(175-177)atafs	p.-59fs	RNF32_ENST00000343665.4_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000311822.8_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000392743.2_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000432459.2_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000392740.1_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000317955.5_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000405335.1_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000480011.1_3'UTR			Q9H0A6	RNF32_HUMAN	ring finger protein 32	NA						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TACAAAGGCAATAATAGATACT	0.361		NA											False	0	False	7:156437352	0
LEPROTL1	23484	broad.mit.edu	37	8	29961992	29961993	+	Frame_Shift_Ins	INS	-	-	AAAAAGAAAAATA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:29961992_29961993insAAAAAGAAAAATA	ENST00000442880.2	+	3	357_358	c.269_270insAAAAAGAAAAATA	c.(268-273)agagcafs	p.A91fs	LEPROTL1_ENST00000518192.1_Frame_Shift_Ins_p.A114fs|LEPROTL1_ENST00000523116.1_Frame_Shift_Ins_p.A91fs|LEPROTL1_ENST00000518001.1_Frame_Shift_Ins_p.A30fs|LEPROTL1_ENST00000321250.8_Frame_Shift_Ins_p.A91fs			O95214	LERL1_HUMAN	leptin receptor overlapping transcript-like 1	91						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)	5				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GTATTTGCCAGAGCACATCTGG	0.356		NA											False	0	False	8:29961992	0
TEX15	56154	broad.mit.edu	37	8	30701885	30701886	+	In_Frame_Ins	INS	-	-	GATTTTAAAGAAAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:30701885_30701886insGATTTTAAAGAAAAA	ENST00000256246.2	-	1	4722_4723	c.4648_4649insTTTTTCTTTAAAATC	c.(4648-4650)gac>gTTTTTCTTTAAAATCac	p.1550_1550D>VFL*NH		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1550										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGACTGCGAGTCTTTACTAACT	0.386		NA											False	0	True	8:30701885	0
ADAM9	8754	broad.mit.edu	37	8	38940590	38940591	+	In_Frame_Ins	INS	-	-	GCTTAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:38940590_38940591insGCTTAC	ENST00000487273.2	+	18	2144_2145	c.2066_2067insGCTTAC	c.(2065-2070)aatgaa>aaGCTTACtgaa	p.689_689N>KLT		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	689	EGF-like.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CCTACATACAATGGCAAGTAAT	0.441		NA											False	0	False	8:38940590	0
C8orf34	116328	broad.mit.edu	37	8	69358644	69358645	+	In_Frame_Ins	INS	-	-	TAATGTACCCACGCAAAG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:69358644_69358645insTAATGTACCCACGCAAAG	ENST00000337103.4	+	2	1815_1816	c.223_224insTAATGTACCCACGCAAAG	c.(223-225)agt>aTAATGTACCCACGCAAAGgt	p.75_75S>IMYPRKG	C8orf34_ENST00000539993.1_In_Frame_Ins_p.100_100S>IMYPRKG|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000518698.1_In_Frame_Ins_p.186_186S>IMYPRKG|C8orf34_ENST00000348340.2_In_Frame_Ins_p.100_100S>IMYPRKG|C8orf34_ENST00000523686.1_In_Frame_Ins_p.100_100S>IMYPRKG			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	100			K -> N (in a colorectal cancer sample; somatic mutation).		signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AAAATCAAAAAGTGACCTTGCT	0.332		NA											False	0	True	8:69358644	0
RP1	6101	broad.mit.edu	37	8	55538238	55538239	+	In_Frame_Ins	INS	-	-	CACTTGACT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:55538238_55538239insCACTTGACT	ENST00000220676.1	+	4	1944_1945	c.1796_1797insCACTTGACT	c.(1795-1800)ggtaac>ggCACTTGACTtaac	p.599_600GN>GT*LN		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	599					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAACTTATGGTAACACCAATG	0.366		NA											False	0	False	8:55538238	0
ATP6V0D2	245972	broad.mit.edu	37	8	87151756	87151757	+	In_Frame_Ins	INS	-	-	ATACATGAGTCTCTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:87151756_87151757insATACATGAGTCTCTT	ENST00000285393.3	+	3	515_516	c.373_374insATACATGAGTCTCTT	c.(373-375)att>aATACATGAGTCTCTTtt	p.125_125I>NT*VSF	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	125					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TGTGAAAGAAATTCTGGGGAAG	0.426		NA											False	0	True	8:87151756	0
KLF10	7071	broad.mit.edu	37	8	103663560	103663561	+	Frame_Shift_Ins	INS	-	-	ACGAGGA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:103663560_103663561insACGAGGA	ENST00000395884.3	-	3	1868_1869	c.966_967insTCCTCGT	c.(964-969)gtggtgfs	p.V323fs	KLF10_ENST00000285407.6_Frame_Shift_Ins_p.V334fs	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	334					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TTCGGGCTCACCACCGGAGGCT	0.554		NA											False	0	False	8:103663560	0
OXR1	55074	broad.mit.edu	37	8	107726158	107726159	+	Frame_Shift_Ins	INS	-	-	TAAATCTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:107726158_107726159insTAAATCTT	ENST00000517566.2	+	10	2039_2040	c.1901_1902insTAAATCTT	c.(1900-1905)gaggagfs	p.EE634fs	OXR1_ENST00000531443.1_Frame_Shift_Ins_p.EE634fs|OXR1_ENST00000442977.2_Frame_Shift_Ins_p.EE635fs|OXR1_ENST00000452423.2_Frame_Shift_Ins_p.EE124fs|OXR1_ENST00000445937.1_Frame_Shift_Ins_p.EE634fs|OXR1_ENST00000312046.6_Frame_Shift_Ins_p.EE627fs	NM_001198533.1	NP_001185462.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	635					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAAAGATTGAGGAGTCTGAAA	0.361		NA											False	0	False	8:107726158	0
COL14A1	7373	broad.mit.edu	37	8	121209115	121209116	+	Frame_Shift_Ins	INS	-	-	AAAAACAGTCCATCTTAATGTCTTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:121209115_121209116insAAAAACAGTCCATCTTAATGTCTTTT	ENST00000297848.3	+	6	792_793	c.522_523insAAAAACAGTCCATCTTAATGTCTTTT	c.(523-525)agafs	p.R175fs	COL14A1_ENST00000309791.4_Frame_Shift_Ins_p.R175fs|COL14A1_ENST00000537875.1_Frame_Shift_Ins_p.R175fs|COL14A1_ENST00000247781.3_Frame_Shift_Ins_p.R175fs|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	175	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATTCAACTTCAGACTGGTTCG	0.411		NA											False	0	False	8:121209115	0
TG	7038	broad.mit.edu	37	8	133984913	133984914	+	Frame_Shift_Ins	INS	-	-	TAATAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:133984913_133984914insTAATAAA	ENST00000220616.4	+	34	6166_6167	c.6126_6127insTAATAAA	c.(6127-6129)tggfs	p.W2043fs	TG_ENST00000519543.1_Frame_Shift_Ins_p.W197fs|TG_ENST00000377869.1_Frame_Shift_Ins_p.W1986fs|TG_ENST00000542445.1_Frame_Shift_Ins_p.W413fs|TG_ENST00000522523.1_3'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2043					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGGAGGAGCCTGGCGCATTTT	0.48		NA											False	0	False	8:133984913	0
PTK2	5747	broad.mit.edu	37	8	141774447	141774448	+	In_Frame_Ins	INS	-	-	AAAAGTTATTGATACTTACTGTCTTTTTAGAGC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:141774447_141774448insAAAAGTTATTGATACTTACTGTCTTTTTAGAGC	ENST00000519465.1	-	1	174_175	c.3_4insGCTCTAAAAAGACAGTAAGTATCAATAACTTTT	c.(1-6)atgaaa>atgGCTCTAAAAAGACAGTAAGTATCAATAACTTTTaaa	p.1_2MK>MALKRQ*VSITFK	PTK2_ENST00000517887.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000522684.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000520151.1_In_Frame_Ins_p.1_2MK>MALKRQ*VSITFK|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000535192.1_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)			TCCTGGTATTTCATATAATTAA	0.327		NA											False	0	True	8:141774447	0
PTK2	5747	broad.mit.edu	37	8	141774449	141774450	+	Translation_Start_Site	INS	-	-	TT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:141774449_141774450insTT	ENST00000519465.1	-	0	172_173				PTK2_ENST00000517887.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000522684.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000520151.1_Start_Codon_Ins|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000535192.1_Intron			Q05397	FAK1_HUMAN	protein tyrosine kinase 2	NA					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)			CTGGTATTTCATATAATTAAAG	0.327		NA											False	1	False	8:141774449	0
GBP5	115362	broad.mit.edu	37	1	89732190	89732191	+	Frame_Shift_Ins	INS	-	-	TGGATCTCGTG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:89732190_89732191insTGGATCTCGTG	ENST00000370459.3	-	6	833_834	c.706_707insCACGAGATCCA	c.(706-708)tttfs	p.F236fs	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Frame_Shift_Ins_p.F236fs|GBP5_ENST00000481145.1_5'UTR			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	236						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)		AGGTAAGTCAAAGATAAAGCAT	0.381		NA											False	0	True	1:89732190	0
GBP5	115362	broad.mit.edu	37	1	89732192	89732193	+	Frame_Shift_Ins	INS	-	-	TATTATTTTTAGGATTTTCCTTCAATTTAATGTAAACT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:89732192_89732193insTATTATTTTTAGGATTTTCCTTCAATTTAATGTAAACT	ENST00000370459.3	-	6	831_832	c.704_705insAGTTTACATTAAATTGAAGGAAAATCCTAAAAATAATA	c.(703-705)atcfs	p.-235fs	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Frame_Shift_Ins_p.-235fs|GBP5_ENST00000481145.1_5'UTR			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	NA						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)		GTAAGTCAAAGATAAAGCATTT	0.371		NA											False	0	False	1:89732192	0
HFM1	164045	broad.mit.edu	37	1	91778989	91778990	+	Translation_Start_Site	INS	-	-	CATTAATAGTATATAGTAGA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:91778989_91778990insCATTAATAGTATATAGTAGA	ENST00000462405.1	-	0	1232_1233				HFM1_ENST00000294696.5_Frame_Shift_Ins_p.Q335fs|HFM1_ENST00000370425.3_Frame_Shift_Ins_p.Q1103fs|HFM1_ENST00000370424.3_Frame_Shift_Ins_p.Q782fs			A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	NA							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CATAGTGATTTGATTTCCAAAC	0.317		NA											False	0	True	1:91778989	0
CDC7	8317	broad.mit.edu	37	1	91978733	91978734	+	Frame_Shift_Ins	INS	-	-	AAACTGTAATTCTTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:91978733_91978734insAAACTGTAATTCTTTT	ENST00000428239.1	+	7	950_951	c.691_692insAAACTGTAATTCTTTT	c.(691-693)atcfs	p.I231fs	CDC7_ENST00000430031.2_Frame_Shift_Ins_p.I203fs|CDC7_ENST00000234626.6_Frame_Shift_Ins_p.I231fs	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	231	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		ATCCCACATAATCACAGGAAAC	0.441		NA											False	0	False	1:91978733	0
CCDC18	343099	broad.mit.edu	37	1	93659267	93659268	+	In_Frame_Ins	INS	-	-	ATACTTTGTTTAAGACTACTAAAGAGATTATCCCAGGTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:93659267_93659268insATACTTTGTTTAAGACTACTAAAGAGATTATCCCAGGTA	ENST00000343253.7	+	6	1166_1167	c.664_665insATACTTTGTTTAAGACTACTAAAGAGATTATCCCAGGTA	c.(664-666)gtg>gATACTTTGTTTAAGACTACTAAAGAGATTATCCCAGGTAtg	p.222_222V>DTLFKTTKEIIPGM	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_In_Frame_Ins_p.340_340V>DTLFKTTKEIIPGM|CCDC18_ENST00000401026.3_In_Frame_Ins_p.222_222V>DTLFKTTKEIIPGM|CCDC18_ENST00000338949.4_In_Frame_Ins_p.21_21V>DTLFKTTKEIIPGM			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	222										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAAATTAAAGGTGGACTTACTT	0.317		NA											False	0	False	1:93659267	0
JAK2	3717	broad.mit.edu	37	9	5050796	5050797	+	In_Frame_Ins	INS	-	-	CAAAAATTT	rs41302214		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:5050796_5050797insCAAAAATTT	ENST00000381652.3	+	6	1073_1074	c.579_580insCAAAAATTT	c.(580-582)gat>CAAAAATTTgat	p.193_194insQKF	JAK2_ENST00000539801.1_In_Frame_Ins_p.193_194insQKF|JAK2_ENST00000544510.1_In_Frame_Ins_p.44_45insQKF	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	193	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				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)		CCAAAGAAAACGATCAAACCCC	0.356		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				False	0	False	9:5050796	0
JAK2	3717	broad.mit.edu	37	9	5050797	5050798	+	Frame_Shift_Ins	INS	-	-	AAGGAAATATCTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:5050797_5050798insAAGGAAATATCTC	ENST00000381652.3	+	6	1074_1075	c.580_581insAAGGAAATATCTC	c.(580-582)gatfs	p.D194fs	JAK2_ENST00000539801.1_Frame_Shift_Ins_p.D194fs|JAK2_ENST00000544510.1_Frame_Shift_Ins_p.D45fs	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	194	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				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)		CAAAGAAAACGATCAAACCCCA	0.356		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				False	0	False	9:5050797	0
PTPRD	5789	broad.mit.edu	37	9	8449812	8449813	+	In_Frame_Ins	INS	-	-	ATTTTACTATTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:8449812_8449813insATTTTACTATTA	ENST00000381196.4	-	31	4443_4444	c.3900_3901insTAATAGTAAAAT	c.(3898-3903)agaaaa>agaTAATAGTAAAATaaa	p.1300_1301RK>R***NK	PTPRD_ENST00000540109.1_In_Frame_Ins_p.1300_1301RK>R***NK|PTPRD_ENST00000360074.4_In_Frame_Ins_p.1287_1288RK>R***NK|PTPRD_ENST00000358503.5_In_Frame_Ins_p.1278_1279RK>R***NK|PTPRD_ENST00000486161.1_In_Frame_Ins_p.893_894RK>R***NK|PTPRD_ENST00000356435.5_In_Frame_Ins_p.1300_1301RK>R***NK|PTPRD_ENST00000355233.5_In_Frame_Ins_p.894_895RK>R***NK|PTPRD_ENST00000397606.3_In_Frame_Ins_p.879_880RK>R***NK|PTPRD_ENST00000397611.3_In_Frame_Ins_p.890_891RK>R***NK|PTPRD_ENST00000537002.1_In_Frame_Ins_p.890_891RK>R***NK|PTPRD_ENST00000397617.3_In_Frame_Ins_p.879_880RK>R***NK	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1300					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATGCTGCTTTTTCTAGAGTCGG	0.421		NA								TSP Lung(15;0.13)			False	0	True	9:8449812	0
UBE2R2	54926	broad.mit.edu	37	9	33912085	33912086	+	Frame_Shift_Ins	INS	-	-	ATGAATACCCATATTTACA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:33912085_33912086insATGAATACCCATATTTACA	ENST00000263228.3	+	4	677_678	c.486_487insATGAATACCCATATTTACA	c.(487-489)gaafs	p.E163fs		NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	163					protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		AAGAATATGCTGAAATTATTAG	0.351		NA											False	0	True	9:33912085	0
VPS13A	23230	broad.mit.edu	37	9	79968551	79968552	+	Frame_Shift_Ins	INS	-	-	CATCATA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:79968551_79968552insCATCATA	ENST00000360280.3	+	54	7906_7907	c.7646_7647insCATCATA	c.(7645-7650)attacafs	p.T2550fs	VPS13A_ENST00000357409.5_Frame_Shift_Ins_p.T2550fs|VPS13A_ENST00000376634.4_Frame_Shift_Ins_p.T2550fs|VPS13A_ENST00000376636.3_Frame_Shift_Ins_p.T2511fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2550					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						TATATAGGCATTACAAGGTTAG	0.307		NA											False	0	False	9:79968551	0
BSPRY	54836	broad.mit.edu	37	9	116116618	116116619	+	Splice_Site	INS	-	-	ATTTTCTCCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:116116618_116116619insATTTTCTCCT	ENST00000374183.4	+	2	339	c.300_300insATTTTCTCCT	c.(301-303)agc>agATTTTCTCCTc	p.S101fs	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	101					calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AAAGAGCAGTGGTAATTCCTCT	0.525		NA											False	0	False	9:116116618	0
ENG	2022	broad.mit.edu	37	9	130588944	130588944	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:130588944delC	ENST00000344849.3	-	4	648	c.368delG	c.(367-369)agcfs	p.S123fs	ENG_ENST00000373203.4_Frame_Shift_Del_p.S123fs			P17813	EGLN_HUMAN	endoglin	123				SSLVTFQEP -> FQPGHLPRA (in Ref. 5).	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GGTGACCAGGCTGGAATTCTG	0.597		NA							Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				False	1	False	9:130588944	0
SPTAN1	6709	broad.mit.edu	37	9	131347071	131347072	+	Frame_Shift_Ins	INS	-	-	CATCCCCTTTATGCTAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:131347071_131347072insCATCCCCTTTATGCTAC	ENST00000372739.3	+	18	2619_2620	c.2509_2510insCATCCCCTTTATGCTAC	c.(2509-2511)gaafs	p.E837fs	SPTAN1_ENST00000358161.5_Frame_Shift_Ins_p.E837fs|SPTAN1_ENST00000372731.4_Frame_Shift_Ins_p.E837fs	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	837					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGCTGGACATGAACCACGCATC	0.48		NA											False	0	False	9:131347071	0
SLC39A12	221074	broad.mit.edu	37	10	18266903	18266904	+	Frame_Shift_Ins	INS	-	-	CATAGCTACAGCATAGATATTCCCTTACAAAGAATTCTTATCATTTTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:18266903_18266904insCATAGCTACAGCATAGATATTCCCTTACAAAGAATTCTTATCATTTTTT	ENST00000377371.3	+	5	1022_1023	c.824_825insCATAGCTACAGCATAGATATTCCCTTACAAAGAATTCTTATCATTTTTT	c.(823-828)caaaggfs	p.QR275fs	SLC39A12_ENST00000377374.4_Frame_Shift_Ins_p.QR275fs|SLC39A12_ENST00000539911.1_Frame_Shift_Ins_p.QR141fs|SLC39A12_ENST00000377369.2_Frame_Shift_Ins_p.QR275fs			Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	275					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CATCAATTTCAAAGGAAACAAA	0.371		NA											False	0	True	10:18266903	0
HOXA3	3200	broad.mit.edu	37	7	27148069	27148069	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:27148069C>T	ENST00000396352.4	-	3	996	c.797G>A	c.(796-798)cGc>cAc	p.R266H	HOXA3_ENST00000317201.2_Missense_Mutation_p.R266H|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	266					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CACGGGGCTGCGACTTGGAGA	0.602		NA											False	0	False	7:27148069	0
TNXB	7148	broad.mit.edu	37	6	32046935	32046935	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:32046935C>T	ENST00000375244.3	-	11	4451	c.4250G>A	c.(4249-4251)cGt>cAt	p.R1417H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1417H			P22105	TENX_HUMAN	tenascin XB	1504	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCCCAACACGCACCGCCCG	0.662		NA											False	0	False	6:32046935	0
L3HYPDH	112849	broad.mit.edu	37	14	59946013	59946013	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:59946013C>T	ENST00000247194.4	-	2	678	c.565G>A	c.(565-567)Ggt>Agt	p.G189S	RP11-701B16.2_ENST00000554253.1_RNA|L3HYPDH_ENST00000487285.1_Missense_Mutation_p.G18S	NM_144581.1	NP_653182.1			L-3-hydroxyproline dehydratase (trans-)	NA											NA						TAAAATGCACCGCCATATGCA	0.423		NA											False	0	False	14:59946013	0
TRGV4	0	broad.mit.edu	37	7	38393523	38393523	+	RNA	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:38393523G>A	ENST00000390345.2	-	0	480										NA											NA						AGTGGATGTAGCCGGTACTTC	0.512		NA											False	0	False	7:38393523	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_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
CENPT	80152	broad.mit.edu	37	16	67863789	67863789	+	Silent	SNP	G	G	C			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:67863789G>C	ENST00000562787.1	-	12	1613	c.1065C>G	c.(1063-1065)ccC>ccG	p.P355P	CENPT_ENST00000440851.2_Silent_p.P355P|CENPT_ENST00000564817.1_Intron|CENPT_ENST00000219172.3_Silent_p.P355P	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	355					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	p.P355P(1)		NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTACCCTGCTGGGTCCTTGTG	0.547		NA											False	0	True	16:67863789	0
SYT3	84258	broad.mit.edu	37	19	51133283	51133283	+	Silent	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:51133283G>A	ENST00000338916.4	-	3	1453	c.820C>T	c.(820-822)Ctg>Ttg	p.L274L	SYT3_ENST00000544769.1_Silent_p.L274L|SYT3_ENST00000600079.1_Silent_p.L274L|SYT3_ENST00000593901.1_Silent_p.L274L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	274						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCCTGGTACAGCTCTGGCTTA	0.677		NA											False	0	False	19:51133283	0
PHACTR1	221692	broad.mit.edu	37	6	13230385	13230385	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:13230385C>T	ENST00000379350.1	+	9	1480	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W	PHACTR1_ENST00000332995.7_Missense_Mutation_p.R451W|PHACTR1_ENST00000457702.2_Missense_Mutation_p.R306W|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	451						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GGATGAGGAGCGGCTGGAGCT	0.587		NA											False	0	False	6:13230385	0
USH2A	7399	broad.mit.edu	37	1	216498693	216498693	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:216498693T>C	ENST00000366943.2	-	6	1483	c.1097A>G	c.(1096-1098)aAt>aGt	p.N366S	USH2A_ENST00000366942.3_Missense_Mutation_p.N366S|USH2A_ENST00000307340.3_Missense_Mutation_p.N366S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	366	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACTCCTTGATTAAGCTGTGT	0.363		NA								HNSCC(13;0.011)			False	0	False	1:216498693	0
L1CAM	3897	broad.mit.edu	37	X	153135631	153135631	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:153135631G>A	ENST00000370060.1	-	9	1060	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	L1CAM_ENST00000538883.1_Nonsense_Mutation_p.Q293*|L1CAM_ENST00000370057.3_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000370055.1_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000361981.3_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000361699.4_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000543994.1_Nonsense_Mutation_p.Q293*	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	291	Ig-like C2-type 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGTGGTTCTGGTAGGTGACA	0.642		NA											False	0	False	X:153135631	0
NAALAD2	10003	broad.mit.edu	37	11	89891358	89891358	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:89891358G>A	ENST00000534061.1	+	7	1072	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	NAALAD2_ENST00000321955.4_Missense_Mutation_p.R281Q|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000525171.1_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	281	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGAATCCCCCGAATACCTGTA	0.313		NA											False	0	True	11:89891358	0
RAB11FIP5	26056	broad.mit.edu	37	2	73302662	73302662	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:73302662C>G	ENST00000258098.6	-	5	2189	c.1949G>C	c.(1948-1950)gGc>gCc	p.G650A	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	650					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TTTGGGGGGGCCCGGGGGGAT	0.637		NA											False	0	True	2:73302662	0
TRPM6	140803	broad.mit.edu	37	9	77423011	77423011	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:77423011C>T	ENST00000451710.3	-	14	1814	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	TRPM6_ENST00000449912.2_Missense_Mutation_p.R521H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R526H|TRPM6_ENST00000360774.1_Missense_Mutation_p.R526H|TRPM6_ENST00000361255.3_Missense_Mutation_p.R521H|TRPM6_ENST00000376872.3_Missense_Mutation_p.R526H			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	526					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTAGTTGCTGCGATATGCTCT	0.388		NA											False	0	False	9:77423011	0
PCDHA8	0	broad.mit.edu	37	5	140222482	140222482	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:140222482G>A	ENST00000531613.1	+	1	1576	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E526K|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1				NA										NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACCACGAGGAGCTAGA	0.677		NA											False	0	False	5:140222482	0
NCKAP5	344148	broad.mit.edu	37	2	133542683	133542683	+	Silent	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:133542683G>A	ENST00000409261.1	-	14	2074	c.1701C>T	c.(1699-1701)ggC>ggT	p.G567G	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.G567G	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	567							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CATGGCCTTGGCCCTGTGGGC	0.542		NA											False	0	True	2:133542683	0
TP53	7157	broad.mit.edu	37	17	7578525	7578525	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:7578525G>T	ENST00000420246.2	-	5	537	c.405C>A	c.(403-405)tgC>tgA	p.C135*	TP53_ENST00000455263.2_Nonsense_Mutation_p.C135*|TP53_ENST00000445888.2_Nonsense_Mutation_p.C135*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C135*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C135*|TP53_ENST00000269305.4_Nonsense_Mutation_p.C135*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C135W(24)|p.0?(8)|p.C135*(7)|p.C135C(5)|p.C135fs*9(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C3W(1)|p.C42W(1)|p.C135_T140delCQLAKT(1)|p.Q136*(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGGCCAGTTGGCAAAACATCT	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			False	0	False	17:7578525	0
KCNH1	3756	broad.mit.edu	37	1	211256132	211256132	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:211256132C>T	ENST00000367007.4	-	5	717	c.548G>A	c.(547-549)cGc>cAc	p.R183H	KCNH1_ENST00000271751.4_Missense_Mutation_p.R183H	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	183					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTCTGCCAGGCGGGAGTGCTT	0.547		NA											False	0	True	1:211256132	0
CTSG	1511	broad.mit.edu	37	14	25043947	25043947	+	Silent	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:25043947C>T	ENST00000216336.2	-	3	309	c.273G>A	c.(271-273)gcG>gcA	p.A91A		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	91	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.A91A(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGGCTCTGCGCGCAGTGATGT	0.532		NA											False	0	True	14:25043947	0
IFNL1	282618	broad.mit.edu	37	19	39787112	39787112	+	Silent	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:39787112C>T	ENST00000333625.2	+	1	148	c.51C>T	c.(49-51)gcC>gcT	p.A17A		NM_172140.1	NP_742152.1			interferon, lambda 1	NA											NA						TAGGCTTGGCCGTGGCAGGCC	0.587		NA											False	0	False	19:39787112	0
TTN	7273	broad.mit.edu	37	2	179621444	179621444	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:179621444T>C	ENST00000589042.1	-	46	10983	c.10759A>G	c.(10759-10761)Aca>Gca	p.T3587A	TTN_ENST00000360870.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T3416A|TTN_ENST00000591111.1_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3273							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCCTTTGTGAAAGAGGAA	0.403		NA											False	0	False	2:179621444	0
OR51F2	119694	broad.mit.edu	37	11	4843497	4843497	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:4843497T>G	ENST00000322110.5	+	1	947	c.882T>G	c.(880-882)ttT>ttG	p.F294L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAATGTCTTTCTGCTAATCC	0.423		NA											False	0	True	11:4843497	0
MPO	4353	broad.mit.edu	37	17	56356676	56356676	+	Silent	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:56356676G>A	ENST00000340482.3	-	4	932	c.756C>T	c.(754-756)aaC>aaT	p.N252N	MPO_ENST00000225275.3_Silent_p.N220N			P05164	PERM_HUMAN	myeloperoxidase	220					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CCGGGAAGCCGTTGCGCTTGA	0.731		NA											False	0	False	17:56356676	0
ZC3H11A	9877	broad.mit.edu	37	1	203798664	203798664	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:203798664G>T	ENST00000545588.1	+	5	4211	c.384G>T	c.(382-384)caG>caT	p.Q128H	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.Q128H	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	128							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTCTGTCCAGTCCAATCCTT	0.478		NA											False	0	True	1:203798664	0
TLN2	83660	broad.mit.edu	37	15	62993388	62993388	+	Silent	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:62993388G>A	ENST00000561311.1	+	16	1901	c.1671G>A	c.(1669-1671)acG>acA	p.T557T	TLN2_ENST00000306829.6_Silent_p.T557T			Q9Y4G6	TLN2_HUMAN	talin 2	557					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CGGCCGGAACGGCTTCAGTTG	0.418		NA											False	0	False	15:62993388	0
CPEB4	80315	broad.mit.edu	37	5	173337529	173337529	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:173337529C>T	ENST00000265085.5	+	2	2583	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	CPEB4_ENST00000519835.1_Missense_Mutation_p.R377C|CPEB4_ENST00000517880.1_5'UTR|CPEB4_ENST00000522336.1_5'UTR|CPEB4_ENST00000520867.1_Missense_Mutation_p.R377C|CPEB4_ENST00000334035.5_Missense_Mutation_p.R377C	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	377							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTACAGGATCGCCCCAGGAC	0.368		NA											False	0	False	5:173337529	0
OTOGL	283310	broad.mit.edu	37	12	80632702	80632702	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:80632702G>T	ENST00000458043.2	+	9	868	c.862G>T	c.(862-864)Gta>Tta	p.V288L	OTOGL_ENST00000547103.1_Missense_Mutation_p.V288L	NM_173591.3	NP_775862.3			otogelin-like	NA										breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CACCAAATGTGTACTCACACC	0.443		NA											False	0	False	12:80632702	0
AQPEP	0	broad.mit.edu	37	5	115327959	115327959	+	Silent	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:115327959C>T	ENST00000357872.4	+	5	1369	c.1245C>T	c.(1243-1245)caC>caT	p.H415H	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		415					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				NA						TTGTCTCCCACGAGATTGGAC	0.388		NA											False	0	False	5:115327959	0
DISC1	27185	broad.mit.edu	37	1	231830345	231830345	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:231830345G>A	ENST00000439617.2	+	2	894	c.841G>A	c.(841-843)Gca>Aca	p.A281T	DISC1_ENST00000539444.1_Missense_Mutation_p.A281T|DISC1_ENST00000535983.1_Missense_Mutation_p.A281T|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Missense_Mutation_p.A281T|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000317586.4_Missense_Mutation_p.A281T|DISC1_ENST00000602281.1_Missense_Mutation_p.A281T|DISC1_ENST00000366636.4_Missense_Mutation_p.A281T|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366633.3_Missense_Mutation_p.A281T	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	281	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGCCCAGGCCGCAAGGAACAG	0.612		NA											False	0	False	1:231830345	0
RASGRF1	5923	broad.mit.edu	37	15	79296394	79296394	+	Silent	SNP	C	C	T	rs140968213		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:79296394C>T	ENST00000419573.3	-	16	2521	c.2247G>A	c.(2245-2247)tcG>tcA	p.S749S	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.S733S|RASGRF1_ENST00000394745.3_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	749	N-terminal Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCTCGGTGACGATGTCTTGG	0.637		NA											False	0	False	15:79296394	0
