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
IFIT1B	439996	broad.mit.edu	37	10	91144276	91144277	+	In_Frame_Ins	INS	-	-	AGTCTTTTCAAA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr10:91144276_91144277insAGTCTTTTCAAA	ENST00000371809.3	+	2	1286_1287	c.1206_1207insAGTCTTTTCAAA	c.(1207-1209)tta>AGTCTTTTCAAAtta	p.402_403insSLFK	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	402							binding			endometrium(2)|large_intestine(3)|lung(8)	13						TTACCCATTATTTAAAAGGTTT	0.356		NA											False	0	True	10:91144276	0
OR6Q1	219952	broad.mit.edu	37	11	57799109	57799109	+	Frame_Shift_Del	DEL	C	C	-	rs34846253		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr11:57799109delC	ENST00000302622.3	+	1	708	c.685delC	c.(685-687)ctgfs	p.L230fs	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CGTCTGGACACTGCTGCACAT	0.532		NA											False	1	False	11:57799109	0
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000506523.2_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
TAS2R7	50837	broad.mit.edu	37	12	10954461	10954462	+	Frame_Shift_Ins	INS	-	-	TATTCTAAAAGGA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:10954461_10954462insTATTCTAAAAGGA	ENST00000240687.2	-	1	764_765	c.708_709insTCCTTTTAGAATA	c.(706-711)gctgtcfs	p.V237fs		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	237					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						AAGGAAATGACAGCTTTCAGGG	0.5		NA											False	0	False	12:10954461	0
RAP1B	5908	broad.mit.edu	37	12	69050230	69050231	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:69050230_69050231insTA	ENST00000541216.1	+	6	514_515	c.469_470insTA	c.(469-471)gtafs	p.V157fs	RAP1B_ENST00000250559.9_Splice_Site|RAP1B_ENST00000463493.1_Splice_Site|RAP1B_ENST00000543697.1_Intron|RAP1B_ENST00000542145.1_Splice_Site|RAP1B_ENST00000341355.5_Splice_Site|RAP1B_ENST00000393436.5_Splice_Site|RAP1B_ENST00000543393.1_Splice_Site|RAP1B_ENST00000540209.1_Splice_Site|RAP1B_ENST00000378985.3_Splice_Site|RAP1B_ENST00000539091.1_Splice_Site|RAP1B_ENST00000450214.2_Splice_Site|RAP1B_ENST00000537460.1_Splice_Site			P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	157					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TGTTAATGAGGTATGGTCAAAT	0.327		NA											False	1	False	12:69050230	0
BRCA2	675	broad.mit.edu	37	13	32932061	32932062	+	In_Frame_Ins	INS	-	-	AAAGTAAACATG			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr13:32932061_32932062insAAAGTAAACATG	ENST00000380152.3	+	16	8033_8034	c.7800_7801insAAAGTAAACATG	c.(7801-7803)tat>AAAGTAAACATGtat	p.2600_2601insKVNM	BRCA2_ENST00000544455.1_In_Frame_Ins_p.2600_2601insKVNM			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2600					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGAAGAATTTTATAGGTACTC	0.376		NA	"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			False	0	True	13:32932061	0
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs142857579		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	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
RALGAPA1	253959	broad.mit.edu	37	14	36096790	36096791	+	Frame_Shift_Ins	INS	-	-	TGTTA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr14:36096790_36096791insTGTTA	ENST00000382366.3	-	34	4981_4982	c.4883_4884insTAACA	c.(4882-4884)ggcfs	p.-1628fs	RALGAPA1_ENST00000307138.6_Frame_Shift_Ins_p.-1615fs|RALGAPA1_ENST00000258840.6_Frame_Shift_Ins_p.-1662fs|RALGAPA1_ENST00000389698.3_Frame_Shift_Ins_p.-1615fs			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	NA					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAGGAGGTGGGCCATACAGTAT	0.441		NA											False	0	True	14:36096790	0
CHRFAM7A	89832	broad.mit.edu	37	15	30665281	30665282	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr15:30665281_30665282delCA	ENST00000299847.2	-	6	680_681	c.227_228delTG	c.(226-228)ctgfs	p.L76fs	CHRFAM7A_ENST00000397827.3_5'UTR|CHRFAM7A_ENST00000401522.3_5'UTR	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	76						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		ACCCAAACTTCAGTTTGCAGTG	0.505		NA											False	1	False	15:30665281	0
TYRO3	7301	broad.mit.edu	37	15	41857341	41857342	+	Splice_Site	INS	-	-	G			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr15:41857341_41857342insG	ENST00000263798.3	+	6	1007		c.e6+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	NA						integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGTTCAGGTAGGCTCTCCGG	0.579		NA											False	0	False	15:41857341	0
VWA3A	146177	broad.mit.edu	37	16	22161152	22161158	+	Frame_Shift_Del	DEL	ACACGCT	ACACGCT	-			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	ACACGCT	ACACGCT	-	-	ACACGCT	ACACGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr16:22161152_22161158delACACGCT	ENST00000389398.5	+	29	3125_3131	c.3029_3035delACACGCT	c.(3028-3036)gacacgctgfs	p.DTL1010fs	VWA3A_ENST00000563755.1_Frame_Shift_Del_p.DTL112fs|VWA3A_ENST00000389397.4_Frame_Shift_Del_p.DTL112fs	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1010	VWFA 2.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TCATGGCAGGACACGCTGGTGGAGACC	0.546		NA											False	1	False	16:22161152	0
RBL2	5934	broad.mit.edu	37	16	53488708	53488709	+	Frame_Shift_Ins	INS	-	-	CATTTCAA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr16:53488708_53488709insCATTTCAA	ENST00000262133.6	+	8	1270_1271	c.1133_1134insCATTTCAA	c.(1132-1137)gctgaafs	p.E379fs	RBL2_ENST00000544545.1_Frame_Shift_Ins_p.E163fs|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	379					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACAGAGACTGCTGAAAGGGTGC	0.465		NA											False	0	False	16:53488708	0
TNFSF13	8741	broad.mit.edu	37	17	7464116	7464117	+	Frame_Shift_Ins	INS	-	-	TAGCGGT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr17:7464116_7464117insTAGCGGT	ENST00000349228.4	+	5	1235_1236	c.671_672insTAGCGGT	c.(670-675)ccacatfs	p.H225fs	TNFSF12_ENST00000557233.1_Frame_Shift_Ins_p.H321fs|TNFSF13_ENST00000396542.1_Frame_Shift_Ins_p.H196fs|TNFSF13_ENST00000483039.1_Frame_Shift_Ins_p.H105fs|TNFSF13_ENST00000396545.4_Frame_Shift_Ins_p.H241fs|TNFSF13_ENST00000380535.4_Frame_Shift_Ins_p.H213fs|TNFSF13_ENST00000338784.4_Frame_Shift_Ins_p.H241fs|TNFSF12-TNFSF13_ENST00000293826.4_Frame_Shift_Ins_p.H321fs	NM_172087.2	NP_742084.1			tumor necrosis factor (ligand) superfamily, member 13	NA										large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				AACCTCTCTCCACATGGAACCT	0.47		NA									OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:7464116	0
TDRD5	163589	broad.mit.edu	37	1	179631421	179631422	+	Splice_Site	INS	-	-	ACAAA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:179631421_179631422insACAAA	ENST00000367614.1	+	14	2702	c.2343_2343insACAAA	c.(2344-2346)gac>gaACAAAc	p.D782fs	TDRD5_ENST00000444136.1_Splice_Site_p.D836fs|TDRD5_ENST00000294848.8_Splice_Site_p.D782fs	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	782					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGCCACAGAAGGTTAGATCCTT	0.475		NA											False	0	False	1:179631421	0
TDRD5	163589	broad.mit.edu	37	1	179631422	179631423	+	Splice_Site	INS	-	-	AAAAACTATCA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:179631422_179631423insAAAAACTATCA	ENST00000367614.1	+	14	2702		c.e14+1		TDRD5_ENST00000444136.1_Splice_Site|TDRD5_ENST00000294848.8_Splice_Site	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	NA					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GCCACAGAAGGTTAGATCCTTG	0.48		NA											False	0	False	1:179631422	0
HELZ	9931	broad.mit.edu	37	17	65103458	65103459	+	In_Frame_Ins	INS	-	-	AAAAATATCAGTATTTATTGATTTGATAATAGGAAGGCACAGATC			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr17:65103458_65103459insAAAAATATCAGTATTTATTGATTTGATAATAGGAAGGCACAGATC	ENST00000358691.5	-	31	5233_5234	c.5067_5068insGATCTGTGCCTTCCTATTATCAAATCAATAAATACTGATATTTTT	c.(5065-5070)caacag>caaGATCTGTGCCTTCCTATTATCAAATCAATAAATACTGATATTTTTcag	p.1689_1690QQ>QDLCLPIIKSINTDIFQ	HELZ_ENST00000580168.1_In_Frame_Ins_p.1690_1691QQ>QDLCLPIIKSINTDIFQ	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
MIB1	57534	broad.mit.edu	37	18	19429320	19429321	+	Frame_Shift_Ins	INS	-	-	TATTACAAATTCACTAA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr18:19429320_19429321insTATTACAAATTCACTAA	ENST00000261537.6	+	17	2821_2822	c.2557_2558insTATTACAAATTCACTAA	c.(2557-2559)tgtfs	p.C853fs	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	853					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			ATGCCTCATCTGTAAAGAACAG	0.327		NA											False	0	False	18:19429320	0
PLIN4	729359	broad.mit.edu	37	19	4511376	4511377	+	Frame_Shift_Del	DEL	CA	CA	-	rs71263980		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr19:4511376_4511377delCA	ENST00000301286.3	-	3	2552_2553	c.2553_2554delTG	c.(2551-2556)cttggcfs	p.G852fs		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	852	27 X 33 AA approximate tandem repeat.			NTLG -> DTVC (in Ref. 2; BAB67774).		lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACCCCACTGCCAAGGGTGTTCT	0.584		NA											False	1	False	19:4511376	0
MDM4	4194	broad.mit.edu	37	1	204518408	204518409	+	Frame_Shift_Ins	INS	-	-	TAATACTCAGGGG			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:204518408_204518409insTAATACTCAGGGG	ENST00000367182.3	+	11	1233_1234	c.1071_1072insTAATACTCAGGGG	c.(1072-1074)gatfs	p.D358fs	MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000367183.3_Frame_Shift_Ins_p.D32fs|MDM4_ENST00000454264.2_Frame_Shift_Ins_p.D308fs|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000463049.1_3'UTR	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	Mdm4 p53 binding protein homolog (mouse)	358					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ATGAAGGAAATGATGTCCCTGA	0.416		NA	A		"""GBM, bladder, retinoblastoma"""								False	0	False	1:204518408	0
RALGAPB	57148	broad.mit.edu	37	20	37121723	37121724	+	Frame_Shift_Ins	INS	-	-	TCTCAGTAGACTGATTT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr20:37121723_37121724insTCTCAGTAGACTGATTT	ENST00000262879.6	+	3	621_622	c.337_338insTCTCAGTAGACTGATTT	c.(337-339)aatfs	p.N113fs	RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.N113fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.N113fs|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.N113fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	113					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TAAAGAGCCTAATCAATATGTT	0.347		NA											False	0	False	20:37121723	0
KCNB1	3745	broad.mit.edu	37	20	47990605	47990608	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	TTTC	TTTC	-	-	TTTC	TTTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr20:47990605_47990608delTTTC	ENST00000371741.4	-	2	1655_1658	c.1489_1492delGAAA	c.(1489-1494)gaaaccfs	p.ET497fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	497					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTTGAGCTGGTTTCAGACAGTGTC	0.436		NA											False	1	True	20:47990605	0
DNAJB7	150353	broad.mit.edu	37	22	41258054	41258055	+	Translation_Start_Site	INS	-	-	GGTAACCAACATAGAGGAGGAAAAACAAAGATTACAGTGGCTACTATTTGGAA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr22:41258054_41258055insGGTAACCAACATAGAGGAGGAAAAACAAAGATTACAGTGGCTACTATTTGGAA	ENST00000307221.4	-	0	75_76				XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000541156.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	NA					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						GTGGTTTCCTCAGCTCAGGCTC	0.421		NA											False	0	True	22:41258054	0
HUWE1	10075	broad.mit.edu	37	X	53584360	53584361	+	Frame_Shift_Ins	INS	-	-	GTTCT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chrX:53584360_53584361insGTTCT	ENST00000342160.3	-	59	8645_8646	c.8188_8189insAGAAC	c.(8188-8190)actfs	p.T2730fs	HUWE1_ENST00000262854.6_Frame_Shift_Ins_p.T2730fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2730					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATTCTGTTCAGTGGAGTCATTT	0.431		NA											False	0	False	X:53584360	0
VPS13D	55187	broad.mit.edu	37	1	12446387	12446388	+	Frame_Shift_Ins	INS	-	-	CCAGGAGA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:12446387_12446388insCCAGGAGA	ENST00000358136.3	+	60	11758_11759	c.11628_11629insCCAGGAGA	c.(11629-11631)gtafs	p.V3877fs	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.V3852fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3876					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCATACAGGATGTACAGGTAAG	0.411		NA											False	0	False	1:12446387	0
HEATR1	55127	broad.mit.edu	37	1	236766574	236766575	+	In_Frame_Ins	INS	-	-	TGTAAAAAATTAAGTAGTTGA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:236766574_236766575insTGTAAAAAATTAAGTAGTTGA	ENST00000366582.3	-	3	358_359	c.244_245insTCAACTACTTAATTTTTTACA	c.(244-246)cag>cTCAACTACTTAATTTTTTACAag	p.82_82Q>LNYLIFYK	HEATR1_ENST00000366579.1_In_Frame_Ins_p.82_82Q>LNYLIFYK|HEATR1_ENST00000366581.2_In_Frame_Ins_p.82_82Q>LNYLIFYK	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	82					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGCTTTGGTCTGAACACTTCGC	0.436		NA											False	0	False	1:236766574	0
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	TGCTGCG	TGCTGCG	-	-	TGCTGCG	TGCTGCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527		NA											False	1	False	1:248616705	0
ABCG5	64240	broad.mit.edu	37	2	44047223	44047224	+	In_Frame_Ins	INS	-	-	TAAGAT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr2:44047223_44047224insTAAGAT	ENST00000405322.1	-	8	1862_1863	c.966_967insATCTTA	c.(964-969)catcct>catATCTTAcct	p.322_323HP>HILP	ABCG5_ENST00000543989.1_In_Frame_Ins_p.98_99HP>HILP|ABCG5_ENST00000260645.1_In_Frame_Ins_p.493_494HP>HILP			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	493					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCAACCTCAGGATGTAAGCCCA	0.426		NA											False	0	False	2:44047223	0
AGAP1	116987	broad.mit.edu	37	2	236659109	236659110	+	Frame_Shift_Ins	INS	-	-	ATGTAATTAGTTTATGAATC	rs112666282	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr2:236659109_236659110insATGTAATTAGTTTATGAATC	ENST00000409538.1	+	6	1941_1942	c.1445_1446insATGTAATTAGTTTATGAATC	c.(1444-1449)aatgtgfs	p.NV482fs	AGAP1_ENST00000428334.2_Frame_Shift_Ins_p.NV56fs|AGAP1_ENST00000304032.7_Frame_Shift_Ins_p.NV217fs|AGAP1_ENST00000336665.5_Frame_Shift_Ins_p.NV217fs|AGAP1_ENST00000409457.1_Frame_Shift_Ins_p.NV217fs			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	217	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TACGGGCTGAATGTGGAGAGGG	0.55		NA											False	0	False	2:236659109	0
CNOT10	25904	broad.mit.edu	37	3	32776413	32776414	+	Frame_Shift_Ins	INS	-	-	TATTTTAAAATAAGGCTCTTTT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:32776413_32776414insTATTTTAAAATAAGGCTCTTTT	ENST00000328834.5	+	12	1775_1776	c.1459_1460insTATTTTAAAATAAGGCTCTTTT	c.(1459-1461)aatfs	p.N487fs	CNOT10_ENST00000331889.6_Frame_Shift_Ins_p.N487fs|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000454516.2_Frame_Shift_Ins_p.N547fs|CNOT10_ENST00000538368.1_Frame_Shift_Ins_p.N259fs	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	487					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TGGGGCTAAAAATAGTAATCAA	0.441		NA											False	0	True	3:32776413	0
KIF15	56992	broad.mit.edu	37	3	44816889	44816890	+	Frame_Shift_Ins	INS	-	-	ATAT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:44816889_44816890insATAT	ENST00000326047.4	+	3	355_356	c.206_207insATAT	c.(205-210)accttcfs	p.F70fs		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	70	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAGCCCAAGACCTTCACGTTTG	0.45		NA											False	0	False	3:44816889	0
KIF15	56992	broad.mit.edu	37	3	44816890	44816891	+	Frame_Shift_Ins	INS	-	-	CCATACAAAT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:44816890_44816891insCCATACAAAT	ENST00000326047.4	+	3	356_357	c.207_208insCCATACAAAT	c.(208-210)ttcfs	p.-69fs		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	NA					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AGCCCAAGACCTTCACGTTTGA	0.446		NA											False	0	False	3:44816890	0
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs144323459	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618		NA											False	1	True	1:22987385	0
CCDC66	285331	broad.mit.edu	37	3	56627108	56627109	+	In_Frame_Ins	INS	-	-	ATTTAATCCACT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:56627108_56627109insATTTAATCCACT	ENST00000394672.3	+	8	1117_1118	c.1047_1048insATTTAATCCACT	c.(1048-1050)gaa>ATTTAATCCACTgaa	p.349_350insI*ST	CCDC66_ENST00000326595.7_In_Frame_Ins_p.315_316insI*ST|CCDC66_ENST00000436465.2_In_Frame_Ins_p.349_350insI*ST	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	349										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAAAAATAGAGGAAAAAATTAT	0.302		NA											False	0	True	3:56627108	0
MAATS1	89876	broad.mit.edu	37	3	119451310	119451311	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:119451310_119451311insT	ENST00000273390.5	+	9	1265_1266	c.1188_1189insT	c.(1189-1191)aacfs	p.N397fs		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1	NA								p.L396L(1)			NA						ACTACTATCTCAACACCTATGA	0.322		NA											False	0	False	3:119451310	0
MAATS1	89876	broad.mit.edu	37	3	119451311	119451312	+	Frame_Shift_Ins	INS	-	-	AAATATTGTTCTGAATT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:119451311_119451312insAAATATTGTTCTGAATT	ENST00000273390.5	+	9	1266_1267	c.1189_1190insAAATATTGTTCTGAATT	c.(1189-1191)aacfs	p.N397fs		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1	NA											NA						CTACTATCTCAACACCTATGAA	0.322		NA											False	0	False	3:119451311	0
ATP2C1	27032	broad.mit.edu	37	3	130672697	130672698	+	Frame_Shift_Ins	INS	-	-	TATCAAAACCATC			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:130672697_130672698insTATCAAAACCATC	ENST00000510168.1	+	9	1114_1115	c.564_565insTATCAAAACCATC	c.(565-567)acafs	p.T189fs	ATP2C1_ENST00000422190.2_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000507488.2_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000328560.8_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000393221.4_Frame_Shift_Ins_p.T223fs|ATP2C1_ENST00000359644.3_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000504948.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000504381.1_Frame_Shift_Ins_p.T134fs|ATP2C1_ENST00000428331.2_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000533801.2_Frame_Shift_Ins_p.T184fs|ATP2C1_ENST00000505330.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000513801.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000508532.1_Frame_Shift_Ins_p.T189fs			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	189					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)	AGTCCAGCTTGACAGGTGAGAC	0.431		NA							Hailey-Hailey disease				False	0	False	3:130672697	0
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394		NA											False	1	False	3:137880741	0
PRKCI	5584	broad.mit.edu	37	3	169998131	169998132	+	Frame_Shift_Ins	INS	-	-	GATATTTTCCTAACAT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:169998131_169998132insGATATTTTCCTAACAT	ENST00000295797.4	+	9	1127_1128	c.822_823insGATATTTTCCTAACAT	c.(823-825)aaafs	p.K275fs		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	275	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TTCGATTAAAAAAAACAGATCG	0.361		NA											False	0	True	3:169998131	0
VPS8	23355	broad.mit.edu	37	3	184542503	184542504	+	Frame_Shift_Ins	INS	-	-	AAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:184542503_184542504insAAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT	ENST00000436792.2	+	2	226_227	c.83_84insAAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT	c.(82-87)aatctafs	p.NL28fs	VPS8_ENST00000437079.3_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000287546.4_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000446204.2_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000424463.2_Frame_Shift_Ins_p.NL28fs			Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	28							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AAGTCTTTCAATCTAGAAGCTT	0.351		NA											False	0	False	3:184542503	0
HTT	3064	broad.mit.edu	37	4	3189588	3189589	+	In_Frame_Ins	INS	-	-	TAATAC			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr4:3189588_3189589insTAATAC	ENST00000355072.5	+	39	5345_5346	c.5200_5201insTAATAC	c.(5200-5202)aat>aTAATACat	p.1734_1734N>IIH		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1734					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACAAATAAAGAATTTGCCAGAA	0.386		NA											False	0	True	4:3189588	0
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs141544276		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548		NA											False	1	True	4:40434705	0
NUP54	53371	broad.mit.edu	37	4	77053791	77053792	+	Frame_Shift_Ins	INS	-	-	AAAAAGAAAGATTTAGAAC			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr4:77053791_77053792insAAAAAGAAAGATTTAGAAC	ENST00000514987.1	-	5	669_670	c.647_648insGTTCTAAATCTTTCTTTTT	c.(646-648)catfs	p.H216fs	NUP54_ENST00000458189.2_Frame_Shift_Ins_p.H84fs|NUP54_ENST00000342467.6_Frame_Shift_Ins_p.H84fs|NUP54_ENST00000264883.3_Frame_Shift_Ins_p.H264fs			Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	264	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						CTTGTTCAAAATGGGCATATAG	0.386		NA											False	0	True	4:77053791	0
ZNF354A	6940	broad.mit.edu	37	5	178139809	178139810	+	Frame_Shift_Ins	INS	-	-	ACTGGAGAGAAGTTTTA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:178139809_178139810insACTGGAGAGAAGTTTTA	ENST00000335815.2	-	5	1266_1267	c.1069_1070insTAAAACTTCTCTCCAGT	c.(1069-1071)aatfs	p.N357fs		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	357					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		GCCACATTCATTACATAAGTAG	0.411		NA											False	0	True	5:178139809	0
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433		NA											False	1	False	6:7393450	0
FAM8A1	51439	broad.mit.edu	37	6	17605243	17605248	+	In_Frame_Del	DEL	TTAGTT	TTAGTT	-	rs143076391	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	TTAGTT	TTAGTT	-	-	TTAGTT	TTAGTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:17605243_17605248delTTAGTT	ENST00000259963.3	+	3	995_1000	c.940_945delTTAGTT	c.(940-945)ttagttdel	p.LV314del		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	314	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			ATACAGATTATTAGTTTGTTTCTATG	0.301		NA											False	1	True	6:17605243	0
CUTA	51596	broad.mit.edu	37	6	33384506	33384507	+	Frame_Shift_Ins	INS	-	-	TTTTG			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:33384506_33384507insTTTTG	ENST00000374500.5	-	6	648_649	c.517_518insCAAAA	c.(517-519)gaafs	p.E173fs	CUTA_ENST00000440279.3_Frame_Shift_Ins_p.E131fs|CUTA_ENST00000374496.3_Frame_Shift_Ins_p.E131fs|CUTA_ENST00000488034.1_Frame_Shift_Ins_p.E154fs|CUTA_ENST00000494751.1_Intron|CUTA_ENST00000607266.1_Frame_Shift_Ins_p.E131fs|CUTA_ENST00000488478.1_Frame_Shift_Ins_p.-137fs	NM_001014433.2	NP_001014433.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	154					protein localization|response to metal ion	membrane	enzyme binding		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						GTTCCCCTGTTCCACAGGCAAT	0.515		NA											False	0	False	6:33384506	0
DST	667	broad.mit.edu	37	6	56473888	56473889	+	Frame_Shift_Ins	INS	-	-	TTATTTTC			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:56473888_56473889insTTATTTTC	ENST00000361203.3	-	36	4911_4912	c.4904_4905insGAAAATAA	c.(4903-4905)tctfs	p.-1635fs	DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Frame_Shift_Ins_p.-1635fs|DST_ENST00000370754.5_Frame_Shift_Ins_p.-1813fs|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Frame_Shift_Ins_p.-1309fs|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Frame_Shift_Ins_p.-1635fs			Q03001	DYST_HUMAN	dystonin	NA					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTGACGCAGCAGAAATAATCTC	0.401		NA											False	0	True	6:56473888	0
BEND6	221336	broad.mit.edu	37	6	56846687	56846688	+	Frame_Shift_Ins	INS	-	-	AAACATGACACATAACATATTCACAACTG			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:56846687_56846688insAAACATGACACATAACATATTCACAACTG	ENST00000370746.3	+	2	348_349	c.79_80insAAACATGACACATAACATATTCACAACTG	c.(79-81)atgfs	p.M27fs	BEND6_ENST00000370750.2_Frame_Shift_Ins_p.M27fs|BEND6_ENST00000370745.1_Frame_Shift_Ins_p.M27fs|BEND6_ENST00000370748.3_Frame_Shift_Ins_p.M27fs	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	27										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AACAGAGACAATGGACTCAGAA	0.347		NA											False	0	False	6:56846687	0
AK9	221264	broad.mit.edu	37	6	109850201	109850201	+	Frame_Shift_Del	DEL	C	C	-	rs72613250		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:109850201delC	ENST00000355283.1	-	5	1129	c.883delG	c.(883-885)gttfs	p.V295fs	AK9_ENST00000424296.2_Intron|AK9_ENST00000341338.6_Intron					adenylate kinase 9	NA											NA						aaaaaaaaaacaaaaCTACTT	0.413		NA											False	1	True	6:109850201	0
BCLAF1	9774	broad.mit.edu	37	6	136597648	136597649	+	Splice_Site	INS	-	-	TTTTAAGAACTTCCCAGTCTTTGCAGTTTCCTGATCTCCACCATCAGGATAAAAC			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:136597648_136597649insTTTTAAGAACTTCCCAGTCTTTGCAGTTTCCTGATCTCCACCATCAGGATAAAAC	ENST00000531224.1	-	5	1269		c.e5-2		BCLAF1_ENST00000527759.1_Splice_Site|BCLAF1_ENST00000392348.2_Splice_Site|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000353331.4_Splice_Site|BCLAF1_ENST00000527536.1_Splice_Site	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	NA					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTGTGAACCTGCGAATAAGCA	0.441		NA											False	0	False	6:136597648	0
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552		NA											False	1	True	7:44153778	0
ZMIZ2	83637	broad.mit.edu	37	7	44797065	44797109	+	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	rs142075074	by1000genomes	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	-	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr7:44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	ENST00000309315.4	+	5	580_624	c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	c.(457-501)gtggctgctgcggcagccactgccaccgccacagccacagccaccdel	p.VAAAAATATATATAT153del	ZMIZ2_ENST00000265346.7_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000441627.1_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000433667.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000413916.1_In_Frame_Del_p.VAAAAATATATATAT121del	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	153	Ala-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.A164G(1)|p.A147_A155del(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						tgctgcagctgtggctgctgcggcagccactgccaccgccacagccacagccaccgtggctgctC	0.678		NA											False	1	False	7:44797065	0
ELTD1	64123	broad.mit.edu	37	1	79403873	79403874	+	In_Frame_Ins	INS	-	-	AAAGACATACTTTTT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:79403873_79403874insAAAGACATACTTTTT	ENST00000370742.3	-	5	550_551	c.487_488insAAAAAGTATGTCTTT	c.(487-489)ata>aAAAAAGTATGTCTTTta	p.163_163I>KKVCLL		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	163					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TAATATTTCTATATATGTAATT	0.342		NA											False	0	True	1:79403873	0
PTK2	5747	broad.mit.edu	37	8	141774449	141774450	+	Translation_Start_Site	INS	-	-	AAGTTATTGATACTTACTGTCTTT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr8:141774449_141774450insAAGTTATTGATACTTACTGTCTTT	ENST00000519465.1	-	0	172_173				PTK2_ENST00000522684.1_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000520151.1_Start_Codon_Ins			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	0	False	8:141774449	0
KIF24	347240	broad.mit.edu	37	9	34310929	34310930	+	Frame_Shift_Ins	INS	-	-	AATAAATTTTATCTTTC			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr9:34310929_34310930insAATAAATTTTATCTTTC	ENST00000402558.2	-	1	439_440	c.415_416insGAAAGATAAAATTTATT	c.(415-417)cacfs	p.H139fs	KIF24_ENST00000345050.2_Frame_Shift_Ins_p.H139fs|KIF24_ENST00000379174.3_Frame_Shift_Ins_p.H139fs|KIF24_ENST00000379166.2_Frame_Shift_Ins_p.H139fs			Q5T7B8	KIF24_HUMAN	kinesin family member 24	139					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TGGTAGCATGTGTTCTAGCACT	0.396		NA											False	0	False	9:34310929	0
ZNF484	83744	broad.mit.edu	37	9	95608681	95608682	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr9:95608681_95608682insA	ENST00000375495.3	-	5	2535_2536	c.2387_2388insT	c.(2386-2388)aaafs	p.K796fs	ZNF484_ENST00000395505.2_Frame_Shift_Ins_p.K760fs|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Frame_Shift_Ins_p.K798fs|ZNF484_ENST00000332591.6_Frame_Shift_Ins_p.K760fs	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	796					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TAGTATGAATTTTCTGGTGTTT	0.416		NA											False	0	True	9:95608681	0
ZNF484	83744	broad.mit.edu	37	9	95608682	95608683	+	Frame_Shift_Ins	INS	-	-	GAACATCTGGA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr9:95608682_95608683insGAACATCTGGA	ENST00000375495.3	-	5	2534_2535	c.2386_2387insTCCAGATGTTC	c.(2386-2388)aaafs	p.K796fs	ZNF484_ENST00000395505.2_Frame_Shift_Ins_p.K760fs|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Frame_Shift_Ins_p.K798fs|ZNF484_ENST00000332591.6_Frame_Shift_Ins_p.K760fs	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	796					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AGTATGAATTTTCTGGTGTTTA	0.411		NA											False	0	True	9:95608682	0
SMC2	10592	broad.mit.edu	37	9	106864424	106864425	+	Frame_Shift_Ins	INS	-	-	GAATAACTCAAAATTG			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr9:106864424_106864425insGAATAACTCAAAATTG	ENST00000286398.7	+	8	1108_1109	c.820_821insGAATAACTCAAAATTG	c.(820-822)atafs	p.I274fs	SMC2_ENST00000374793.3_Frame_Shift_Ins_p.I274fs|SMC2_ENST00000303219.8_Frame_Shift_Ins_p.I274fs|SMC2_ENST00000374787.3_Frame_Shift_Ins_p.I274fs	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	274					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TGATAAAAAAATAAAAGCACTT	0.307		NA											False	0	True	9:106864424	0
TSC1	0	broad.mit.edu	37	9	135786954	135786955	+	Splice_Site	INS	-	-	TGCT	rs146537773	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr9:135786954_135786955insTGCT	ENST00000298552.3	-	10	1135_1136	c.914_915insAGCA	c.(913-915)ggg>ggAGCAg	p.-305fs	TSC1_ENST00000440111.2_Splice_Site_p.-305fs|TSC1_ENST00000403810.1_Splice_Site_p.-305fs|TSC1_ENST00000545250.1_Splice_Site_p.-254fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	NA					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AAGTAGCACACCCTAAAATGGA	0.406		NA	"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				False	0	True	9:135786954	0
CTD-2012J19.3	0	broad.mit.edu	37	5	1602656	1602656	+	RNA	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:1602656G>A	ENST00000605200.1	+	0	622				RP11-43F13.1_ENST00000507841.1_RNA						NA											NA						acagagacggggggagaggga	0.458		NA											False	0	True	5:1602656	0
SMAD4	4089	broad.mit.edu	37	18	48575671	48575671	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr18:48575671C>G	ENST00000342988.3	+	4	969	c.431C>G	c.(430-432)tCa>tGa	p.S144*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S144*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S144*|SMAD4_ENST00000452201.2_Nonsense_Mutation_p.S144*|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	144					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.S144*(5)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TAAGATCTCTCAGGATTAACA	0.294		NA											False	0	True	18:48575671	0
LAMB2	3913	broad.mit.edu	37	3	49166233	49166233	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:49166233C>T	ENST00000418109.1	-	15	1915	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R584H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	584	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.R584H(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTCACCAGGCGCTCCACCAC	0.617		NA											False	0	False	3:49166233	0
KDM3B	51780	broad.mit.edu	37	5	137756544	137756544	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:137756544G>A	ENST00000314358.5	+	15	4065	c.3865G>A	c.(3865-3867)Gaa>Aaa	p.E1289K	KDM3B_ENST00000542866.1_Missense_Mutation_p.E321K|KDM3B_ENST00000394866.1_Missense_Mutation_p.E945K	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1289					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CAACAAAACCGAAGGGTCTAG	0.547		NA											False	0	False	5:137756544	0
PDZRN3	23024	broad.mit.edu	37	3	73438996	73438996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:73438996G>A	ENST00000263666.4	-	7	1501	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R180C|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R185C|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R120C|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R120C	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	463	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCTCGGATGCGCCCATCCTTG	0.468		NA											False	0	True	3:73438996	0
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr17:7579358C>A	ENST00000420246.2	-	4	461	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000269305.4_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)		GAAGCCCAGACGGAAACCGTA	0.612		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	17:7579358	0
PCDHGB6	0	broad.mit.edu	37	5	140788898	140788898	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:140788898G>A	ENST00000520790.1	+	1	1129	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1				NA										breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGATTTCGGAGGAAATGG	0.413		NA											False	0	False	5:140788898	0
CACNA1A	773	broad.mit.edu	37	19	13445253	13445253	+	Silent	SNP	C	C	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr19:13445253C>T	ENST00000360228.5	-	8	1136	c.1137G>A	c.(1135-1137)ctG>ctA	p.L379L	CACNA1A_ENST00000573710.2_Silent_p.L379L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	379					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTTGCCGCCTCAGCTTCAGAA	0.517		NA											False	0	False	19:13445253	0
PDXDC2P	0	broad.mit.edu	37	16	70055803	70055803	+	RNA	SNP	G	G	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr16:70055803G>C	ENST00000531894.1	-	0	1181					NR_003610.1					NA											NA						CAGAGGCAGGGCACGGAGTTT	0.403		NA											False	0	True	16:70055803	0
SPTBN4	57731	broad.mit.edu	37	19	41063285	41063285	+	Silent	SNP	T	T	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr19:41063285T>C	ENST00000352632.3	+	26	5732	c.5646T>C	c.(5644-5646)caT>caC	p.H1882H	SPTBN4_ENST00000392025.1_Silent_p.H625H|SPTBN4_ENST00000595535.1_Silent_p.H1882H|SPTBN4_ENST00000598249.1_Silent_p.H1882H|SPTBN4_ENST00000338932.3_Silent_p.H1882H|SPTBN4_ENST00000392023.1_Silent_p.H558H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1882					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTTTGAGCATGACCTGCAGC	0.667		NA											False	0	False	19:41063285	0
PCDHA4	0	broad.mit.edu	37	5	140188477	140188477	+	Missense_Mutation	SNP	C	C	T	rs13189658		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:140188477C>T	ENST00000530339.1	+	1	1705	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	PCDHA4_ENST00000356878.4_Missense_Mutation_p.R569W|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R569W	NM_018907.2	NP_061730.1				NA										breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAGCGCCTCGGGCGGGTGG	0.687		NA											False	0	True	5:140188477	0
WNT7B	7477	broad.mit.edu	37	22	46327243	46327243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr22:46327243C>T	ENST00000339464.4	-	3	679	c.305G>A	c.(304-306)cGt>cAt	p.R102H	WNT7B_ENST00000410058.1_Missense_Mutation_p.R102H|WNT7B_ENST00000410089.1_Missense_Mutation_p.R86H|WNT7B_ENST00000409496.3_Missense_Mutation_p.R106H	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	102					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGCCTCACGGCTCCCTGC	0.701		NA											False	0	False	22:46327243	0
PRPS1	5631	broad.mit.edu	37	X	106890883	106890883	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chrX:106890883G>A	ENST00000372435.4	+	6	874	c.752G>A	c.(751-753)gGa>gAa	p.G251E	PRPS1_ENST00000543248.1_Missense_Mutation_p.G251E|PRPS1_ENST00000372428.4_Missense_Mutation_p.G184E|PRPS1_ENST00000372418.1_Missense_Mutation_p.G151E	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	251					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						TTGACTCATGGAATCTTCTCC	0.443		NA											False	0	False	X:106890883	0
SLCO1C1	53919	broad.mit.edu	37	12	20854386	20854386	+	Silent	SNP	T	T	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:20854386T>C	ENST00000381552.1	+	3	632	c.264T>C	c.(262-264)ttT>ttC	p.F88F	SLCO1C1_ENST00000545604.1_Silent_p.F88F|SLCO1C1_ENST00000266509.2_Silent_p.F88F|SLCO1C1_ENST00000540354.1_Silent_p.F88F|SLCO1C1_ENST00000545102.1_Intron			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	88					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					ATGGTAGTTTTGAAATTGGTA	0.418		NA											False	0	True	12:20854386	0
VPS29	51699	broad.mit.edu	37	12	110933972	110933972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:110933972G>A	ENST00000549578.1	-	2	105	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	VPS29_ENST00000546588.1_Missense_Mutation_p.R46W|VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000360579.7_Missense_Mutation_p.R18W|VPS29_ENST00000549970.1_5'UTR|VPS29_ENST00000447578.2_5'UTR	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	14					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						CTGTTGCACCGGTGTGGGATG	0.398		NA											False	0	False	12:110933972	0
TRIM73	0	broad.mit.edu	37	7	75028266	75028266	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr7:75028266C>T	ENST00000323819.3	+	2	249	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	TRIM73_ENST00000450434.1_Intron|TRIM73_ENST00000437796.1_Missense_Mutation_p.P17S|TRIM73_ENST00000463766.1_3'UTR|TRIM73_ENST00000447409.2_Missense_Mutation_p.P17S|TRIM73_ENST00000430211.1_Missense_Mutation_p.P17S	NM_198924.2	NP_944606.2	Q86UV6	TRI74_HUMAN	tripartite motif containing 73	17						intracellular	zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCTTCAGTGTCCCATCTGCCT	0.602		NA											False	0	True	7:75028266	0
SLCO1B3	28234	broad.mit.edu	37	12	21011409	21011409	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:21011409G>C	ENST00000381545.3	+	5	482	c.263G>C	c.(262-264)gGa>gCa	p.G88A	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G88A|LST3_ENST00000381541.3_Missense_Mutation_p.G88A|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G88A|SLCO1B3_ENST00000545880.1_3'UTR|LST3_ENST00000540229.1_Missense_Mutation_p.G88A|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G88A	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	88					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AGTTACTTTGGATCTAAACTA	0.308		NA											False	0	False	12:21011409	0
GUSBP1	0	broad.mit.edu	37	5	21491513	21491513	+	RNA	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:21491513G>A	ENST00000607545.1	+	0	179					NR_027026.1					NA											NA						AAACAAAGTCGTGGACAACCA	0.547		NA											False	0	False	5:21491513	0
UGGT2	55757	broad.mit.edu	37	13	96651510	96651510	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr13:96651510T>C	ENST00000376747.3	-	6	782	c.712A>G	c.(712-714)Att>Gtt	p.I238V	UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000376712.4_Missense_Mutation_p.I238V|UGGT2_ENST00000376714.3_Missense_Mutation_p.I238V|UGGT2_ENST00000397618.3_Missense_Mutation_p.I238V	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	238					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GTACTCTTAATTGCTAGCTCC	0.348		NA											False	0	False	13:96651510	0
SERPINB5	5268	broad.mit.edu	37	18	61156680	61156680	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr18:61156680T>C	ENST00000382771.4	+	4	699	c.407T>C	c.(406-408)aTt>aCt	p.I136T	SERPINB5_ENST00000489441.1_Missense_Mutation_p.I136T	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	136					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						AACAACTCAATTAAGGATCTC	0.388		NA											False	0	False	18:61156680	0
VTN	7448	broad.mit.edu	37	17	26696428	26696428	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr17:26696428T>C	ENST00000226218.4	-	4	1169	c.551A>G	c.(550-552)gAc>gGc	p.D184G	VTN_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	184	Hemopexin-like 1.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	TGCCTTTTCGTCCAGTTCATA	0.617		NA											False	0	False	17:26696428	0
ULK4	54986	broad.mit.edu	37	3	41795926	41795926	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:41795926C>T	ENST00000301831.4	-	22	2710	c.2248G>A	c.(2248-2250)Gca>Aca	p.A750T		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	750							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AAGGCTTTTGCTCTAATGCAT	0.358		NA											False	0	False	3:41795926	0
TACC2	10579	broad.mit.edu	37	10	123844650	123844650	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr10:123844650G>A	ENST00000369005.1	+	4	2975	c.2635G>A	c.(2635-2637)Gtg>Atg	p.V879M	TACC2_ENST00000453444.2_Missense_Mutation_p.V879M|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.V879M|TACC2_ENST00000334433.3_Missense_Mutation_p.V879M|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.V879M	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	879						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCATGTACCTGTGGAACCTCA	0.517		NA											False	0	False	10:123844650	0
SPARC	6678	broad.mit.edu	37	5	151045924	151045924	+	Silent	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:151045924G>A	ENST00000231061.4	-	8	1045	c.732C>T	c.(730-732)gaC>gaT	p.D244D		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	244					ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	p.D244D(1)		central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	GGTCTTACCCGTCAATGGGGT	0.572		NA											False	0	True	5:151045924	0
WTAP	9589	broad.mit.edu	37	6	160174521	160174521	+	Missense_Mutation	SNP	G	G	A	rs112093927		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:160174521G>A	ENST00000358372.4	+	7	2239	c.482G>A	c.(481-483)tGt>tAt	p.C161Y	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	161					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		ATGGCGAAGTGTCGAATGCTT	0.423		NA											False	0	False	6:160174521	0
FLRT2	23768	broad.mit.edu	37	14	86089482	86089482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr14:86089482C>A	ENST00000330753.4	+	2	2391	c.1624C>A	c.(1624-1626)Ctg>Atg	p.L542M	FLRT2_ENST00000554746.1_Missense_Mutation_p.L542M	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	542					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTCCCCCTTTCTGCTGGCGGG	0.587		NA											False	0	True	14:86089482	0
ADNP	23394	broad.mit.edu	37	20	49510730	49510730	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr20:49510730T>A	ENST00000396029.3	-	5	1088	c.521A>T	c.(520-522)gAt>gTt	p.D174V	ADNP_ENST00000371602.4_Missense_Mutation_p.D174V|ADNP_ENST00000349014.3_Missense_Mutation_p.D174V|ADNP_ENST00000396032.3_Missense_Mutation_p.D174V	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	174						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ATAAAGAGGATCTCGGTAAGT	0.398		NA											False	0	False	20:49510730	0
OPCML	4978	broad.mit.edu	37	11	132307162	132307162	+	Silent	SNP	G	G	A	rs143650226		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr11:132307162G>A	ENST00000331898.7	-	4	1196	c.618C>T	c.(616-618)aaC>aaT	p.N206N	OPCML_ENST00000374778.4_Silent_p.N165N|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Silent_p.N199N|OPCML_ENST00000541867.1_Silent_p.N206N	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	206	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CAGCGACATCGTTCAACGCGC	0.552		NA											False	0	False	11:132307162	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
GPR115	221393	broad.mit.edu	37	6	47682152	47682152	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:47682152A>T	ENST00000283303.2	+	6	1429	c.1171A>T	c.(1171-1173)Atg>Ttg	p.M391L	GPR115_ENST00000371220.1_Missense_Mutation_p.M448L|GPR115_ENST00000327753.3_Missense_Mutation_p.M391L	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	391	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTCCATTCTCATGTCCTCCAA	0.463		NA											False	0	False	6:47682152	0
CENPJ	55835	broad.mit.edu	37	13	25480645	25480645	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr13:25480645C>A	ENST00000381884.4	-	7	1716	c.1531G>T	c.(1531-1533)Gat>Tat	p.D511Y	CENPJ_ENST00000545981.1_Missense_Mutation_p.D511Y	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	511					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CAGCCAGTATCGCAAGGTTTT	0.458		NA											False	0	False	13:25480645	0
LINC00969	0	broad.mit.edu	37	3	195404651	195404651	+	RNA	SNP	C	C	G	rs1996904	by1000genomes	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508										NA											NA						TGTCACGAATCTTGACAAATT	0.418		NA											False	0	False	3:195404651	0
SYNJ2	8871	broad.mit.edu	37	6	158490618	158490618	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:158490618C>G	ENST00000355585.4	+	14	1928	c.1853C>G	c.(1852-1854)tCt>tGt	p.S618C	SYNJ2_ENST00000367121.3_Missense_Mutation_p.S618C|SYNJ2_ENST00000367122.2_Missense_Mutation_p.S618C	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	618							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATCTCACGCTCTCATAGATAC	0.453		NA											False	0	False	6:158490618	0
KIAA1244	57221	broad.mit.edu	37	6	138528250	138528250	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:138528250C>T	ENST00000251691.4	+	3	375	c.209C>T	c.(208-210)gCa>gTa	p.A70V		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	70					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CATGCTTTGGCAGGGATGCAG	0.443		NA											False	0	False	6:138528250	0
MYO9A	4649	broad.mit.edu	37	15	72208758	72208758	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr15:72208758G>C	ENST00000356056.5	-	19	3110	c.2638C>G	c.(2638-2640)Cat>Gat	p.H880D	MYO9A_ENST00000566885.1_Missense_Mutation_p.H500D|MYO9A_ENST00000564571.1_Missense_Mutation_p.H880D|MYO9A_ENST00000424560.1_Missense_Mutation_p.H880D|MYO9A_ENST00000444904.1_Missense_Mutation_p.H861D|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	880					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGTGTAAATGAAGAAGAGAC	0.353		NA											False	0	False	15:72208758	0
PMS2CL	0	broad.mit.edu	37	7	6776941	6776941	+	RNA	SNP	A	A	G			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr7:6776941A>G	ENST00000486256.1	+	0	1068					NR_002217.1					NA											NA						AGCACTTCAGATGCCATCTCT	0.542		NA											False	0	False	7:6776941	0
CELSR3	1951	broad.mit.edu	37	3	48680455	48680455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:48680455G>A	ENST00000544264.1	-	30	8646	c.8366C>T	c.(8365-8367)cCa>cTa	p.P2789L	CELSR3_ENST00000164024.4_Missense_Mutation_p.P2784L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2784					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGACAGGCTGGCATCCAGGC	0.637		NA											False	0	False	3:48680455	0
ZNF513	130557	broad.mit.edu	37	2	27601875	27601875	+	Silent	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr2:27601875G>A	ENST00000323703.6	-	3	456	c.258C>T	c.(256-258)gaC>gaT	p.D86D	ZNF513_ENST00000407879.1_Silent_p.D24D	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	86	Gly-rich.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGACTCATCGTCGCTCAGCC	0.622		NA											False	0	False	2:27601875	0
IGFALS	3483	broad.mit.edu	37	16	1842049	1842049	+	Silent	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr16:1842049G>A	ENST00000415638.3	-	2	563	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	IGFALS_ENST00000568221.1_3'UTR|IGFALS_ENST00000215539.3_Silent_p.L124L	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	124					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						AGGTGGCACAGGTTCTCTAGG	0.692		NA											False	0	False	16:1842049	0
